PMID- 24397319 OWN - NLM STAT- In-Process DA - 20140113 IS - 1471-2377 (Electronic) IS - 1471-2377 (Linking) VI - 14 DP - 2014 TI - Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. PG - 5 LID - 10.1186/1471-2377-14-5 [doi] AB - BACKGROUND: Spinocerebellar ataxias (SCAs) are heterogeneous diseases characterized by progressive cerebellar ataxia associated with dysarthria, oculomotor abnormalities, and mental impairment. To identify the causative gene, we performed exome sequencing on a Japanese patient clinically diagnosed w ith recessive SCA. METHOD: The patient is a 37-year-old Japanese woman with consanguineous parents. The head magnetic resonance imaging (MRI) showed cerebellar atrophy and T1 low/T2 high intensity at the bilateral inferior olives. Single-nucleotide polymorphism (SNP) genotyping and next-generation sequen cing were performed, and the variants obtained were filtered and prioritized. R ESULTS: After these manipulations, we identified a homozygous nonsense mutation of the TTC19 gene (p.Q277*). TTC19 has been reported to be a causative gene of a neurodegenerative disease in Italian and Portuguese families and to be inv olved in the pathogenesis of mitochondrial respiratory chain complex III (cIII) deficiency. This report is the first description of a TTC19 mutation in an Asian population. Clinical symptoms and neuroimaging are consistent with previou s reports. The head MRI already showed abnormal features four years before h er blood lactate and pyruvate levels were elevated. CONCLUSIONS: We should co nsider the genetic analysis of TTC19 when we observe such characteristic MRI abnormalities. Genes associated with mitochondrial function cause many typ es of SCAs; the mutation we identified should help to elucidate the pathology of these disorders. FAU - Morino, Hiroyuki AU - Morino H AD - Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3, Kasumi, Minami-ku, Hiroshima 734-85 53, Japan. [email protected]. FAU - Miyamoto, Ryosuke AU - Miyamoto R FAU - Ohnishi, Shizuo AU - Ohnishi S FAU - Maruyama, Hirofumi AU - Maruyama H FAU - Kawakami, Hideshi AU - Kawakami H
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PMID- 24397319OWN - NLMSTAT- In-ProcessDA - 20140113IS - 1471-2377 (Electronic)IS - 1471-2377 (Linking)VI - 14DP - 2014TI - Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.PG - 5LID - 10.1186/1471-2377-14-5 [doi]AB - BACKGROUND: Spinocerebellar ataxias (SCAs) are heterogeneous diseases characterized by progressive cerebellar ataxia associated with dysarthria, oculomotor abnormalities, and mental impairment. To identify the causative gene, we performed exome sequencing on a Japanese patient clinically diagnosed with recessive SCA. METHOD: The patient is a 37-year-old Japanese woman with consanguineous parents. The head magnetic resonance imaging (MRI) showed cerebellar atrophy and T1 low/T2 high intensity at the bilateral inferior olives. Single-nucleotide polymorphism (SNP) genotyping and next-generation sequencing were performed, and the variants obtained were filtered and prioritized. RESULTS: After these manipulations, we identified a homozygous nonsense mutation of the TTC19 gene (p.Q277*). TTC19 has been reported to be a causative gene of a neurodegenerative disease in Italian and Portuguese families and to be involved in the pathogenesis of mitochondrial respiratory chain complex III (cIII) deficiency. This report is the first description of a TTC19 mutation in an Asian population. Clinical symptoms and neuroimaging are consistent with previous reports. The head MRI already showed abnormal features four years before her blood lactate and pyruvate levels were elevated. CONCLUSIONS: We should consider the genetic analysis of TTC19 when we observe such characteristic MRI abnormalities. Genes associated with mitochondrial function cause many types of SCAs; the mutation we identified should help to elucidate the pathology of these disorders.FAU - Morino, HiroyukiAU - Morino HAD - Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3, Kasumi, Minami-ku, Hiroshima 734-8553, Japan. [email protected] - Miyamoto, RyosukeAU - Miyamoto RFAU - Ohnishi, ShizuoAU - Ohnishi SFAU - Maruyama, HirofumiAU - Maruyama HFAU - Kawakami, HideshiAU - Kawakami H
PMID- 23546812OWN - NLMSTAT- PubMed-not-MEDLINEDA - 20130827DCOM- 20130827LR - 20130829IS - 2192-8304 (Print)IS - 2192-8304 (Linking)VI - 11DP - 2013TI - Motor and speech disorders in classic galactosemia.PG - 31-41LID - 10.1007/8904_2013_219 [doi]AB - Purpose To test the hypothesis that children with classic galactosemia and speech disorders are at risk for co-occurring strength and coordination disorders. Method This is a case-control study of 32 children (66% male) with galactosemia and neurologic speech disorders and 130 controls (50% male) ages 4-16 years. Speech was assessed using the Percentage of Consonants Correct (PCC) metric from responses to the Goldman-Fristoe Test of Articulation-2 and from a 5-min recorded speech sample, hand and tongue strength using the Iowa Oral Performance Instrument, and coordination using the Movement Assessment Battery for Children. The number of days on milk during the neonatal period was obtained by parent report. Analyses of covariance, distributions, and correlations were used to evaluate relationships among speech, strength, coordination, age, gender, and days on milk. Results Children with galactosemia had weaker hand and tongue strength and most (66%) had significant coordination disorders, primarily affecting balance and manual dexterity. Among children with galactosemia,
children with more speech errors and classified as childhood apraxia of speech (n = 7) and ataxic dysarthria (n = 1), had poorer balance and manual dexterity, but not weaker hand or tongue strength, compared to the children with fewer speech errors. The number of days on milk during the neonatal period was associated with more speech errors in males but not in females. Conclusion Children with galactosemia have a high prevalence of co-occurring speech, coordination, and strength disorders, which may be evidence of a common underlying etiology, likely associated with diffuse cerebellar damage, rather than distinct disorders.FAU - Potter, Nancy LAU - Potter NLAD - Department of Speech and Hearing Sciences, Washington State University Spokane, 412 E. Spokane Falls Blvd., Spokane, WA, 99202-2131, USA, [email protected] - Nievergelt, YvesAU - Nievergelt YFAU - Shriberg, Lawrence DAU - Shriberg LDLA - engPT - Journal ArticleDEP - 20130402PL - GermanyTA - JIMD RepJT - JIMD reportsJID - 101568557PMC - PMC3755563OID - NLM: PMC3755563EDAT- 2013/04/03 06:00MHDA- 2013/04/03 06:01CRDT- 2013/04/03 06:00PHST- 2012/12/31 [received]PHST- 2013/02/19 [accepted]PHST- 2013/02/15 [revised]PHST- 2013/04/02 [aheadofprint]AID - 10.1007/8904_2013_219 [doi]PST - ppublishSO - JIMD Rep. 2013;11:31-41. doi: 10.1007/8904_2013_219. Epub 2013 Apr 2.
PMID- 23468819OWN - NLMSTAT- MEDLINEDA - 20130307DCOM- 20131122LR - 20131203IS - 1866-0452 (Electronic)IS - 1866-0452 (Linking)VI - 110IP - 7DP - 2013 FebTI - Who receives rehabilitation after stroke?: Data from the quality assurance project "Stroke Register Northwest Germany".PG - 101-7LID - 10.3238/arztebl.2013.0101 [doi]AB - BACKGROUND: Neurological rehabilitation after stroke lowers rates of death
, dependency, and institutionalization. Little research has yet addressed the factors affecting the selection of ischemic stroke patients for rehabilitative treatment. METHOD: The database for this study consisted of all cases of ischemic stroke (ICD-10 code I63) that occurred in 2010 and 2011 in the neurological inpatient care facilities participating in the "Stroke Register Northwest Germany" quality assurance project. A primary target group for rehabilitation was defined a priori (Barthel Index at discharge </= 65, no premorbid nursing dependency, no transfer to another acute-care hospital after initial treatment of stroke). Among these patients, factors potentially affecting the provision of rehabilitative treatment were studied with binary logistic regression and multilevel logistic regression. RESULTS: There were 96 955 cases of ischemic stroke in the 127 participating hospitals. 40.8% and 11.4% of these patients underwent neurological and geriatric rehabilitation, respectively. The primary target group for rehabilitation contained 14 486 patients, 14.9% of whom underwent no rehabilitation after their acute treatment. The chances of undergoing subsequent rehabilitation were higher for patients with paresis and dysarthria on admission. Female sex, older age, impaired consciousness at admission, prior history of stroke, and lack of counseling by the hospital social services were all associated with a lower probability of undergoing rehabilitation. CONCLUSION: In this study, 54.4% of all ischemic stroke patients and 85.1% of all patients in a primary target group for rehabilitation that was defined a priori underwent rehabilitation after acute care for stroke. Older patients and those who had had a previous stroke were less likely to undergo rehabilitation. Counseling by hospital social services increased the probability of rehabilitation. The potential exclusion of stroke patients from rehabilitation because of old age should be critically examined in every relevant case.FAU - Unrath, MichaelAU - Unrath MAD - Institute of Epidemiology and Social Medicine, University of Munster, Germany. [email protected] - Kalic, MarianneAU - Kalic MFAU - Berger, KlausAU - Berger KLA - engPT - Journal ArticleDEP - 20130215PL - GermanyTA - Dtsch Arztebl IntJT - Deutsches Arzteblatt international
PMID- 23378215OWN - NLMSTAT- MEDLINEDA - 20130215DCOM- 20130410IS - 1460-2156 (Electronic)IS - 0006-8950 (Linking)VI - 136IP - Pt 2DP - 2013 FebTI - Functional magnetic resonance imaging of chronic dysarthric speech after childhood brain injury: reliance on a left-hemisphere compensatory network.PG - 646-57LID - 10.1093/brain/aws355 [doi]AB - Severe and persistent speech disorder, dysarthria, may be present for life after brain injury in childhood, yet the neural correlates of this chronic disorder remain elusive. Although abundant literature is available on language reorganization after lesions in childhood, little is known about the capacity of motor speech networks to reorganize after injury. Here, we examine the structural and functional neural correlates associated with chronic dysarthria after childhood-onset traumatic brain injury. Forty-nine participants aged 12 ye
ars 3 months to 24 years 11 months were recruited to the study: (i) a group with chronic dysarthria (n = 17); matched for age and sex with two control groups of (ii) healthy control subjects (n = 17); and (iii) individuals without dysarthria after traumatic brain injury (n = 15). A high-resolution 3D T(1)-weighted whole-brain data set was acquired for voxel-based morphometry analyses of group differences in grey matter. Functional magnetic resonance imaging was used to localize activation associated with speaking single words (baseline: listening to words). Group differences on voxel-based morphometry revealed widespread grey matter reductions in the dysarthric group compared with healthy control subjects, including in numerous speech motor regions bilaterally, such as the cerebellum, the basal ganglia and primary motor cortex representation of the articulators. Relative to the non-dysarthric traumatic brain injury group, individuals with dysarthria showed reduced grey matter bilaterally in the ventral sensorimotor cortex, but this reduction was concomitant with increased functional activation only in the left-hemisphere cluster during speech. Finally, increased recruitment of Broca's area (Brodmann area 45, pars triangularis) but not its right homologue, correlated with better speech outcome, suggesting that this 'higher-level' area may be more critically involved with production when associated motor speech regions are damaged. We suggest that the bilateral morphological abnormalities within cortical speech networks in childhood prevented reorganization of speech function from the left- to right-hemisphere. Rather, functional reorganization involved over-recruitment of left-hemisphere motor regions, a reorganization method that was only partly relatively effective, given the presence of persisting yet mild speech deficits. The bilateral structural abnormalities found to limit functional reorganization here, may also be critical to poor speech prognosis for populations with congenital, degenerative or acquired neurological disorders throughout the lifespan.FAU - Morgan, Angela TAU - Morgan ATAD - Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia. [email protected] - Masterton, RichardAU - Masterton RFAU - Pigdon, LaurenAU - Pigdon LFAU - Connelly, AlanAU - Connelly AFAU - Liegeois, Frederique JAU - Liegeois FJLA - engPT - Journal Article
PMID- 23370202OWN - NLMSTAT- MEDLINEDA - 20130226DCOM- 20130620LR - 20140314IS - 1524-4628 (Electronic)IS - 0039-2499 (Linking)VI - 44IP - 3DP - 2013 MarTI - Incidence and associations of poststroke epilepsy: the prospective South London Stroke Register.PG - 605-11LID - 10.1161/STROKEAHA.111.000220 [doi]AB - BACKGROUND AND PURPOSE: To describe the epidemiology and associations of poststroke epilepsy (PSE) because there is limited evidence to inform clinicians and guide future research. METHODS: Data were collected from the population-based South London Stroke Register of first strokes in a multiethnic inner-city population with a maximum follow-up of 12 years. Self-completed forms and interviews notified study organizers of epilepsy diagnosis. Kaplan-Meier methods and Cox models were used to assess associations with sociodemographic factors, clinical features, stroke subtype, and severity markers. RESULTS: Three th
ousand three-hundred ten patients with no history of epilepsy presented with first stroke between 1995 and 2007, with a mean follow-up of 3.8 years. Two-hundred thirteen subjects (6.4%) had development of PSE. PSE incidence at 3 months and 1, 5, and 10 years were estimated at 1.5%, 3.5%, 9.0%, and 12.4%, respectively. Sex, ethnicity, and socioeconomic status were not associations, but markers of cortical location, including dysphasia, visual neglect, and field defect, along with stroke severity indices at presentation, including low Glasgow Coma Scale, incontinence, or poor function on Barthel Index, were associated with PSE on univariate analysis. Young age was independently associated with PSE, affecting 10.7% of patients aged <65 years and 1.6% >85 years (P</=0.001) on 10-year estimates. Independent predictors of PSE also included visual neglect, dysphasia, and stroke subtype, particularly total anterior circulation infarcts. Dysarthria was associated with reduced incidence. CONCLUSIONS: PSE is common, with risk continuing to increase outside the acute phase. Young age, cortical location, larger lesions, and hemorrhagic lesions are independent predictors.FAU - Graham, Neil S NAU - Graham NSAD - Department of Ageing and Health, St Thomas' Hospital, London, UK. [email protected] - Crichton, SiobhanAU - Crichton SFAU - Koutroumanidis, MichaelAU - Koutroumanidis MFAU - Wolfe, Charles D AAU - Wolfe CDFAU - Rudd, Anthony GAU - Rudd AGLA - engGR - RP-PG-0407-10184/Department of Health/United KingdomPT - Journal ArticlePT - Research Support, Non-U.S. Gov'tDEP - 20130131PL - United StatesTA - StrokeJT - Stroke; a journal of cerebral circulationJID - 0235266SB - IMMH - African Continental Ancestry GroupMH - Age FactorsMH - AgedMH - Aged, 80 and overMH - Cerebral Cortex/pathologyMH - Epilepsy/*epidemiology/ethnology/*pathologyMH - European Continental Ancestry GroupMH - FemaleMH - Follow-Up StudiesMH - Glasgow Coma Scale
PMID- 23250882OWN - NLMSTAT- MEDLINEDA - 20121219DCOM- 20130215LR - 20140224IS - 1460-2156 (Electronic)IS - 0006-8950 (Linking)VI - 135IP - Pt 12DP - 2012 DecTI - What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?PG - 3614-26LID - 10.1093/brain/aws298 [doi]AB - Polymerase-gamma (POLG) is a major human disease gene and may account for up to 25% of all mitochondrial diseases in the UK and in Italy. To date, >150 different pathogenic mutations have been described in POLG. Some mutations behave as both dominant and recessive alleles, but an autosomal recessive inheritance pattern is much more common. The most frequently detected pathogenic POLG mutation in the Caucasian population is c.1399G>A leading to a p.Ala467Thr missense mutation in the linker domain of the protein. Although many patients are homozygous for this mutation, clinical presentation is highly variable, ranging from childhood-onset Alpers-Huttenlocher syndrome to adult-onset sensory ataxic neuropathy dysarthria and ophthalmoparesis. The reasons for this are not clear, but familial clustering of phenotypes suggests that modifying factors may influence the clinical manifestation. In this study, we collected clinical, histological and biochemical data from 68 patients carrying the homozygous p.Ala467Thr mutation from eight diagnostic centres in Europe and the USA. We performed DNA analysis in 44 of
these patients to search for a genetic modifier within POLG and flanking regions potentially involved in the regulation of gene expression, and extended our analysis to other genes affecting mitochondrial DNA maintenance (POLG2, PEO1 and ANT1). The clinical presentation included almost the entire phenotypic spectrum of all known POLG mutations. Interestingly, the clinical presentation was similar in siblings, implying a genetic basis for the phenotypic variability amongst homozygotes. However, the p.Ala467Thr allele was present on a shared haplotype in each affected individual, and there was no correlation between the clinical presentation and genetic variants in any of the analysed nuclear genes. Patients with mitochondrial DNA haplogroup U developed epilepsy significantly less frequently than patients with any other mitochondrial DNA haplotype. Epilepsy was reported significantly more frequently in females than in males, and also showed an association with one of the chromosomal markers defining the POLG haplotype. In conclusion, our clinical results show that the homozygous p.Ala467Thr POLG mutation does not cause discrete phenotypes, as previously suggested, but rather there is a continuum of clinical symptoms. Our results suggest that the mitochondrial DNA background plays an important role in modifying the disease phenotype but nuclear modifiers, epigenetic and environmental factors may also influence the severity of disease.FAU - Neeve, Vivienne C MAU - Neeve VCAD - Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.FAU - Samuels, David CAU - Samuels DCFAU - Bindoff, Laurence AAU - Bindoff LAFAU - van den Bosch, BiancaAU - van den Bosch BFAU - Van Goethem, GertAU - Van Goethem GFAU - Smeets, HubertAU - Smeets HFAU - Lombes, AnneAU - Lombes AFAU - Jardel, ClaudeAU - Jardel CFAU - Hirano, MichioAU - Hirano MFAU - Dimauro, SalvatoreAU - Dimauro SFAU - De Vries, MaaikeAU - De Vries M
PMID- 23206553OWN - NLMSTAT- MEDLINEDA - 20121214DCOM- 20130208LR - 20131114IS - 1474-4465 (Electronic)IS - 1474-4422 (Linking)VI - 12IP - 1DP - 2013 JanTI - Transient isolated brainstem symptoms preceding posterior circulation stroke: a population-based study.PG - 65-71LID - 10.1016/S1474-4422(12)70299-5 [doi]LID - S1474-4422(12)70299-5 [pii]AB - BACKGROUND: Transient isolated brainstem symptoms (eg, isolated vertigo, dysarthria, diplopia) are not consistently classified as transient ischaemic attacks (TIAs) and data for prognosis are limited. If some of these transient neurological attacks (TNAs) are due to vertebrobasilar ischaemia, then they should be common during the days and weeks preceding posterior circulation strokes. We aimed to assess the frequency of TNAs before vertebrobasilar ischaemic stroke. METHODS: We studied all potential ischaemic events during the 90 days preceding an ischaemic stroke in patients ascertained within a prospective, population-based incidence study in Oxfordshire, UK (Oxford Vascular Study; 2002-2010) and compared rates of TNA preceding vertebrobasilar stroke
versus carotid stroke. We classified the brainstem symptoms isolated vertigo, vertigo with non-focal symptoms, isolated double vision, transient generalised weakness, and binocular visual disturbance as TNAs in the vertebrobasilar territory; atypical amaurosis fugax and limb-shaking as TNAs in the carotid territory; and isolated slurred speech, migraine variants, transient confusion, and hemisensory tingling symptoms as TNAs in uncertain territory. FINDINGS: Of the 1141 patients with ischaemic stroke, vascular territory was categorisable in 1034 (91%) cases, with 275 vertebrobasilar strokes and 759 carotid strokes. Isolated brainstem TNAs were more frequent before a vertebrobasilar stroke (45 of 275 events) than before a carotid stroke (10 of 759; OR 14.7, 95% CI 7.3-29.5, p<0.0001), particularly during the preceding 2 days (22 of 252 before a vertebrobasilar stroke vs two of 751 before a carotid stroke, OR 35.8, 8.4-153.5, p<0.0001). Of all 59 TNAs preceding (median 4 days, IQR 1-30) vertebrobasilar stroke, only five (8%) fulfilled the National Institute of Neurological Disorders and Stroke (NINDS) criteria for TIA. The other 54 cases were isolated vertigo (n=23), non-NINDS binocular visual disturbance (n=9), vertigo with other non-focal symptoms (n=10), isolated slurred speech, hemisensory tingling, or diplopia (n=8), and non-focal events (n=4). Only 10 (22%) of the 45 patients with isolated brainstem TNAs sought medical attention before the stroke and a vascular cause was suspected by their physician in only one of these cases. INTERPRETATION: In patients with definite vertebrobasilar stroke, preceding transient isolated brainstem symptoms are common, but most symptoms do not satisfy traditional definitions of TIA. More studies of the prognosis of transient isolated brainstem symptoms are required. FUNDING: Wellcome Trust, UK Medical Research Council, Dunhill Medical Trust, Stroke Association, National Institute for Health Research (NIHR), Thames Valley Primary Care Research Partnership, and the NIHR Biomedical Research Centre, Oxford.CI - Copyright (c) 2013 Elsevier Ltd. All rights reserved.FAU - Paul, Nicola L MAU - Paul NLAD - Stroke Prevention Research Unit, Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.FAU - Simoni, MichelaAU - Simoni MFAU - Rothwell, Peter MAU - Rothwell PMCN - Oxford Vascular StudyLA - engGR - 095626/Wellcome Trust/United KingdomGR - G0500987/Medical Research Council/United Kingdom
PMID- 23039766OWN - NLMSTAT- MEDLINEDA - 20130124DCOM- 20130621LR - 20131114IS - 1750-1172 (Electronic)IS - 1750-1172 (Linking)VI - 7DP - 2012TI - Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat.PG - 76LID - 10.1186/1750-1172-7-76 [doi]AB - Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000. Mutations in the NPC1 gene (in 95% of cases) and the NPC2 gene (in approximately 4% of cases) give rise to impaired intracellular lipid metabolism in a number of tissues, including the brain.
Typical neurological manifestations include vertical supranuclear gaze palsy, saccadic eye movement abnormalities, cerebellar ataxia, dystonia, dysmetria, dysphagia and dysarthria. Oropharyngeal dysphagia can be particularly problematic as it can often lead to food or fluid aspiration and subsequent pneumonia. Epidemiological data suggest that bronchopneumonia subsequent to food or fluid aspiration is a major cause of mortality in NP-C and other neurodegenerative disorders. These findings indicate that a therapy capable of improving or stabilising swallowing function might reduce the risk of aspiration pneumonia, and could have a positive impact on patient survival. Miglustat, currently the only approved disease-specific therapy for NP-C in children and adults, has been shown to stabilise key neurological manifestations in NP-C, including dysphagia. In this article we present findings from a systematic literature review of published data on bronchopneumonia/aspiration pneumonia as a cause of death, and on the occurrence of dysphagia in NP-C and other neurodegenerative diseases. We then examine the potential links between dysphagia, aspiration, pneumonia and mortality with a view to assessing the possible effect of miglustat on patient lifespan.FAU - Walterfang, MarkAU - Walterfang MAD - Royal Melbourne Hospital and Melbourne Neuropsychiatry Centre, Melbourne, Australia. [email protected] - Chien, Yin-HsiuAU - Chien YHFAU - Imrie, JackieAU - Imrie JFAU - Rushton, DerrenAU - Rushton DFAU - Schubiger, DanielleAU - Schubiger DFAU - Patterson, Marc CAU - Patterson MCLA - engPT - Journal ArticlePT - Research Support, Non-U.S. Gov'tPT - ReviewDEP - 20121006PL - EnglandTA - Orphanet J Rare DisJT - Orphanet journal of rare diseasesJID - 101266602RN - 0 (miglustat)RN - 19130-96-2 (1-Deoxynojirimycin)SB - IMMH - 1-Deoxynojirimycin/*analogs & derivatives/therapeutic useMH - AnimalsMH - Deglutition Disorders/*complications/mortalityMH - Humans
PMID- 22527240OWN - NLMSTAT- MEDLINEDA - 20121031DCOM- 20130822LR - 20131107IS - 1432-1459 (Electronic)IS - 0340-5354 (Linking)VI - 259IP - 11DP - 2012 NovTI - Prognostic value of decreased tongue strength on survival time in patients with amyotrophic lateral sclerosis.PG - 2360-5LID - 10.1007/s00415-012-6503-9 [doi]AB - Decreased tongue strength (TS) might herald bulbar involvement in patients with amyotrophic lateral sclerosis (ALS) well before dysarthria or dysphagia occur, and as such might be prognostic of short survival. The purpose of this study was to investigate the prognostic value of a decreased TS, in addition to other prognostic factors, such as site of onset, bulbar symptoms, bulbar signs, age, sex, maximum phonation time, time from symptoms to diagnosis, and gastrostomy, for survival time in patients with ALS. TS was measured in four directions in 111 patients who attended the diagnostic outpatient motor neuron clinic of our university hospital. Of these patients, 54 were diagnosed with ALS. TS was considered abnormal if the strength in minimally one direction was at least two standard deviations below the reference values obtained from comparable age category and sex-groups of healthy controls (n = 119). Twenty of the patients with ALS had a decreased TS. Multivariable analysis showed that, in addition to age, TS was an independent prognostic factor for survival time in patients with ALS.FAU - Weikamp, J GAU - Weikamp JG
AD - Department of Rehabilitation (898), Nijmegen Centre for Evidence Based Practice, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. [email protected] - Schelhaas, H JAU - Schelhaas HJFAU - Hendriks, J C MAU - Hendriks JCFAU - de Swart, B J MAU - de Swart BJFAU - Geurts, A C HAU - Geurts ACLA - engPT - Journal ArticleDEP - 20120424PL - GermanyTA - J NeurolJT - Journal of neurologyJID - 0423161SB - IMMH - AdolescentMH - AdultMH - AgedMH - Aged, 80 and overMH - Amyotrophic Lateral Sclerosis/*diagnosis/mortality/*physiopathologyMH - *Disease ProgressionMH - Electromyography/trendsMH - HumansMH - Middle AgedMH - Muscle Strength/*physiologyMH - PrognosisMH - Prospective StudiesMH - Survival Rate/trendsMH - Tongue/*physiopathologyMH - Young AdultPMC - PMC3484270OID - NLM: PMC3484270EDAT- 2012/04/25 06:00MHDA- 2013/08/24 06:00CRDT- 2012/04/25 06:00PHST- 2012/01/21 [received]PHST- 2012/03/27 [accepted]PHST- 2012/03/27 [revised]PHST- 2012/04/24 [aheadofprint]AID - 10.1007/s00415-012-6503-9 [doi]PST - ppublishSO - J Neurol. 2012 Nov;259(11):2360-5. doi: 10.1007/s00415-012-6503-9. Epub 2012 Apr 24.
IP - 4DP - 2012 AprTI - Autopsy confirmed multiple system atrophy cases: Mayo experience and role of autonomic function tests.PG - 453-9LID - 10.1136/jnnp-2011-301068 [doi]AB - BACKGROUND: Multiple system atrophy (MSA) is a sporadic progressive neurodegenerative disorder characterised by autonomic failure, manifested as orthostatic hypotension or urogenital dysfunction, with combinations of parkinsonism that is poorly responsive to levodopa, cerebellar ataxia and corticospinal dysfunction. Published autopsy confirmed cases have provided reasonable neurological characterisation but have lacked adequate autonomic function testing. OBJECTIVES: To retrospectively evaluate if the autonomic characterisation of MSA is accurate in autopsy confirmed MSA and if consensus criteria are validated by autopsy confirmation. METHODS: 29 autopsy confirmed cases of MSA evaluated at the Mayo Clinic who had undergone formalised autonomic testing, including adrenergic, sudomotor and cardiovagal functions and Thermoregulatory Sweat Test (TST), from which the Composite Autonomic Severity Score (CASS) was derived, were included in the study. RESULTS: Patient characteristics: 17 men, 12 women; age of onset 57+/-8.1 years; disease duration to death 6.5+/-3.3 years; first symptom autonomic in 18, parkinsonism in seven and cerebellar in two. Clinical phenotype at first visit was MSA-P (predominant parkinsonism) in 18, MSA-C (predominant cerebellar involvement) in eight, pure autonomic failure in two and Parkinson's disease in one. Clinical diagnosis at last visit was MSA for 28 cases. Autonomic failure was severe: CASS was 7.2+/-2.3 (maximum 10). TST% was 65.6+/-33.9% and exceeded 30% in 82% of patients. The most common pattern was global anhidrosis. Norepinephrine was normal supine (203.6+/-112.7) but orthostatic increment of 33.5+/-23.2% was reduced. Four clinical features (rapid progression, early postural instability, poor levodopa responsiveness and symmetric involvement) were common. CONCLUSION: The pattern of severe and progressive generalised autonomic failure with severe adrenergic and sudomotor failure combined with the clinical phenotype is highly predictive of MSA.FAU - Iodice, ValeriaAU - Iodice VAD - Neurovascular and Autonomic Medicine Unit, Imperial College London, UK.FAU - Lipp, AxelAU - Lipp AFAU - Ahlskog, J EricAU - Ahlskog JEFAU - Sandroni, Paola
PMID- 22152722OWN - NLMSTAT- PubMed-not-MEDLINEDA - 20120105DCOM- 20121002LR - 20121109IS - 1752-1947 (Electronic)IS - 1752-1947 (Linking)VI - 5IP - 1DP - 2011TI - Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series.PG - 573LID - 10.1186/1752-1947-5-573 [doi]AB - INTRODUCTION: Previous studies have shown widespread multisystem degeneration in patients with sporadic amyotrophic lateral sclerosis who develop a total locked-in state and survive under mechanical ventilation for a prolonged period of time. However, the disease progressions reported in these studies were several years after disease onset. There have been no reports of long-term follow-up with brain imaging of patients with familial amyotrophic lateral sclerosis at an advanced stage of the disease. We report the cases of siblings with amyotrophic lateral sclerosis with homozygous deletions of the exon 5 mutation of the gene encoding optineurin, in whom brain computed tomography scans were followed up for
more than 20 years. CASE PRESENTATION: The patients were a Japanese brother and sister. The elder sister was 33 years of age at the onset of disease, which began with muscle weakness of her left lower limb. Two years later she required mechanical ventilation. She became bedridden at the age of 34, and died at the age of 57. A computed tomography scan of her brain at the age of 36 revealed no abnormality. Atrophy of her brain gradually progressed. Ten years after the onset of mechanical ventilation, atrophy of her whole brain, including the cerebral cortex, brain stem and cerebellum, markedly progressed. Her younger brother was 36 years of age at the onset of disease, which presented as muscle weakness of his left upper limb. One year later, he showed dysphagia and dysarthria, and tracheostomy ventilation was performed. He became bedridden at the age of 37 and died at the age of 55. There were no abnormal intracranial findings on brain computed tomography scans obtained at the age of 37 years. At the age of 48 years, computed tomography scans showed marked brain atrophy with ventricular dilatation. Subsequently, atrophy of the whole brain rapidly progressed as in his elder sister. CONCLUSION: We conclude that a homozygous deletion-type mutation in the optineurin gene may be associated with widespread multisystem degeneration in amyotrophic lateral sclerosis.FAU - Ueno, HirokiAU - Ueno HAD - Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan. [email protected] - Kobatake, KeitaroAU - Kobatake KFAU - Matsumoto, MasayasuAU - Matsumoto MFAU - Morino, HiroyukiAU - Morino HFAU - Maruyama, HirofumiAU - Maruyama HFAU - Kawakami, HideshiAU - Kawakami HLA - engPT - Journal ArticleDEP - 20111212PL - EnglandTA - J Med Case RepJT - Journal of medical case reportsJID - 101293382PMC - PMC3251630OID - NLM: PMC3251630EDAT- 2011/12/14 06:00MHDA- 2011/12/14 06:01CRDT- 2011/12/14 06:00
PHST- 2011/09/07 [received]PHST- 2011/12/12 [accepted]PHST- 2011/12/12 [aheadofprint]AID - 1752-1947-5-573 [pii]AID - 10.1186/1752-1947-5-573 [doi]PST - epublishSO - J Med Case Rep. 2011 Dec 12;5(1):573. doi: 10.1186/1752-1947-5-573.
PMID- 22123935OWN - NLMSTAT- MEDLINEDA - 20111129DCOM- 20120418IS - 1939-2869 (Electronic)IS - 0891-1150 (Linking)VI - 78 Suppl 2DP - 2011 NovTI - The clinical features of PML.PG - S8-12LID - 10.3949/ccjm.78.s2.03 [doi]AB - The symptoms associated with progressive multifocal leukoencephalopathy (PML) reflect the location of pathologic brain lesions. These symptoms include visual deficits, cognitive impairment, and motor weakness; in patients with acquired immunodeficiency syndrome (AIDS), presenting signs can also include gait disturbance, dysarthria, dysphasia, and ocular palsy. Recently, PML has been observed in patients treated with biologic agents; natalizumab recipients currently represent the second largest group of patients with PML (behind patients with AIDS). Although brain biopsy is the most accurate and reliable method for diagnosing PML, it is rarely used today. Diagnosis is usually based on detection of JC virus in the cerebrospinal fluid by polymerase chain reaction, the clinical presentation, and demonstration of PML brain lesions on magnetic resonance imaging. With immune reconstitution, the prognosis of PML has improved markedly.FAU - Berger, Joseph RAU - Berger JRAD - Department of Neurology, University of Kentucky Medical Center, KY Clinic (Wing D) - L445, Lexington, KY 40536-0284, USA. [email protected] - engPT - Journal ArticlePT - ReviewPL - United StatesTA - Cleve Clin J MedJT - Cleveland Clinic journal of medicineJID - 8703441RN - 0 (Antibodies, Monoclonal, Humanized)RN - 0 (DNA, Viral)RN - 0 (natalizumab)SB - IMMH - AIDS-Related Opportunistic Infections/cerebrospinal fluid/*diagnosis/epidemiology
PMID- 21997578OWN - NLMSTAT- MEDLINEDA - 20111028DCOM- 20111220LR - 20131213IS - 1942-5546 (Electronic)IS - 0025-6196 (Linking)VI - 86IP - 11DP - 2011 NovTI - Clinical and radiologic correlations of central pontine myelinolysis syndrome.PG - 1063-7LID - 10.4065/mcp.2011.0239 [doi]AB - OBJECTIVE: To characterize clinical and radiologic features of patients with central pontine myelinolysis (CPM) and identify variables that predict outcome. PATIENTS AND METHODS: We retrospectively studied patients diagnosed as having CPM identified by a search of Mayo Clinic medical records from January 1, 1999, through December 31, 2010. Diagnosis was made by clinical and radiologic features. Favorable outcome was defined by a modified Rankin Scale score of 2 or lower. Volume of signal abnormality on brain magnetic resonance imaging (MRI) was quantified by a neuroradiologist blinded to outcomes. Wilcoxon rank sum tests were used to assess association between volume of signal abnormality and outcomes at discharge and last follow-up. RESULTS: Of 24 patients, 14 (58%) had only CPM, and 10 (42%) had extrapontine involvement. Hyponatremia was documented in 18 patients (75%), with median sodium nadir of 114 mmol/L. Eighteen patients (75%) had alcoholism, and malnutrition was documented in 12 (50%). Presenting symptoms included encephalopathy (n=18 [75%]), ataxia (n=11 [46%]), dysarthria (n=7 [29%]), eye movement abnormalities (n=6 [25%]), and seizures (n=5 [21%]).
Favorable outcome was seen in 15 patients (63%) at last follow-up. Findings on initial brain MRI were normal in 5 patients, but all MRI scans were abnormal with serial imaging. The volume of radiologic signal abnormality was not associated with outcome at discharge or last follow-up (P=.67 and P=.37, respectively). CONCLUSION: Clinical outcome in patients with CPM is not predicted by the volume of radiologic T2 signal abnormality on MRI or the severity of hyponatremia. Serial brain imaging is of value because a substantial proportion of patients have normal findings on initial MRI.FAU - Graff-Radford, JonathanAU - Graff-Radford JAD - Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.FAU - Fugate, Jennifer EAU - Fugate JEFAU - Kaufmann, Timothy JAU - Kaufmann TJFAU - Mandrekar, Jay NAU - Mandrekar JNFAU - Rabinstein, Alejandro AAU - Rabinstein AALA - engPT - Journal ArticleDEP - 20111013PL - EnglandTA - Mayo Clin ProcJT - Mayo Clinic proceedingsJID - 0405543RN - 9NEZ333N27 (Sodium)SB - AIMSB - IMMH - AdultMH - AgedMH - Aged, 80 and overMH - Alcoholism/epidemiologyMH - Brain/radiographyMH - ComorbidityMH - FemaleMH - HumansMH - Hyponatremia/epidemiologyMH - Magnetic Resonance ImagingMH - MaleMH - Malnutrition/epidemiologyMH - Middle AgedMH - Myelinolysis, Central Pontine/blood/*diagnosis/epidemiology/radiographyMH - Pons/radiographyMH - Retrospective StudiesMH - Sodium/bloodMH - Tomography, X-Ray ComputedPMC - PMC3202996OID - NLM: PMC3202996EDAT- 2011/10/15 06:00MHDA- 2011/12/21 06:00CRDT- 2011/10/15 06:00PHST- 2011/10/13 [aheadofprint]
AID - S0025-6196(11)65195-1 [pii]AID - 10.4065/mcp.2011.0239 [doi]PST - ppublishSO - Mayo Clin Proc. 2011 Nov;86(11):1063-7. doi: 10.4065/mcp.2011.0239. Epub 2011 Oct 13.
PMID- 21619691OWN - NLMSTAT- MEDLINEDA - 20110627DCOM- 20111018LR - 20131017IS - 1750-1172 (Electronic)IS - 1750-1172 (Linking)VI - 6DP - 2011TI - Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.PG - 33LID - 10.1186/1750-1172-6-33 [doi]AB - Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. The global prevalence of this disease is not known. The most common type I ADCA is SCA3 followed by SCA2, SCA1, and SCA8, in descending order. Founder effects no doubt contribute to the variable prevalence between populations. Onset is usually in adulthood but cases of presentation in childhood have been reported. Clinical features vary depending on the SCA subtype but by definition include ataxia associated with other neurological manifestations. The clinical spectrum ranges from pure cerebellar signs to constellations including spinal cord and peripheral nerve disease, cognitive impairment, cerebellar or supranuclear ophthalmologic signs, psychiatric problems, and seizures. Cerebellar ataxia can affect virtually any body part causing movement abnormalities. Gait, truncal, and limb ataxia are often the most obvious cerebellar findings though nystagmus, saccadic abnormalities, and dysarthria are usually associated. To date, 21 subtypes have been identified: SCA1-SCA4, SCA8, SCA10, SCA12-SCA14, SCA15/16, SCA17-SCA23, SCA25, SCA27, SCA28 and dentatorubral pallidoluysian atrophy (DRPLA). Type I ADCA can be further divided based on the proposed pathogenetic mechanism into 3 subclasses: subclass 1 includes type I ADCA caused by CAG repeat expansions such as SCA1-SCA3, SCA17, and DRPLA, subclass 2 includes trinucleotide repeat
expansions that fall outside of the protein-coding regions of the disease gene including SCA8, SCA10 and SCA12. Subclass 3 contains disorders caused by specific gene deletions, missense mutation, and nonsense mutation and includes SCA13, SCA14, SCA15/16, SCA27 and SCA28. Diagnosis is based on clinical history, physical examination, genetic molecular testing, and exclusion of other diseases. Differential diagnosis is broad and includes secondary ataxias caused by drug or toxic effects, nutritional deficiencies, endocrinopathies, infections and post-infection states, structural abnormalities, paraneoplastic conditions and certain neurodegenerative disorders. Given the autosomal dominant pattern of inheritance, genetic counseling is essential and best performed in specialized genetic clinics. There are currently no known effective treatments to modify disease progression. Care is therefore supportive. Occupational and physical therapy for gait dysfunction and speech therapy for dysarthria is essential. Prognosis is variable depending on the type of ADCA and even among kindreds.FAU - Whaley, Nathaniel RobbAU - Whaley NRAD - Tri State Mountain Neurology, 105 Woodlawn Dr, Johnson City, TN 27604, USA.FAU - Fujioka, ShinsukeAU - Fujioka SFAU - Wszolek, Zbigniew KAU - Wszolek ZKLA - engGR - 1RC2 NS070276/NS/NINDS NIH HHS/United StatesGR - P50 NS 072187/NS/NINDS NIH HHS/United StatesGR - R01 NS057567/NS/NINDS NIH HHS/United StatesPT - Journal ArticlePT - Research Support, N.I.H., ExtramuralPT - Research Support, Non-U.S. Gov'tPT - ReviewDEP - 20110528PL - EnglandTA - Orphanet J Rare DisJT - Orphanet journal of rare diseasesJID - 101266602RN - Spinocerebellar ataxia 13SB - IMMH - GenotypeMH - HumansMH - PhenotypeMH - Spinocerebellar Degenerations/*genetics/*pathologyPMC - PMC3123548OID - NLM: PMC3123548EDAT- 2011/05/31 06:00MHDA- 2011/10/19 06:00CRDT- 2011/05/31 06:00PHST- 2009/07/07 [received]PHST- 2011/05/28 [accepted]
PMID- 21350199OWN - NLMSTAT- MEDLINEDA - 20110329DCOM- 20110531LR - 20140220IS - 1524-4628 (Electronic)IS - 0039-2499 (Linking)VI - 42IP - 4DP - 2011 AprTI - Home time is extended in patients with ischemic stroke who receive thrombolytic therapy: a validation study of home time as an outcome measure.PG - 1046-50LID - 10.1161/STROKEAHA.110.601302 [doi]AB - BACKGROUND AND PURPOSE: "Home time" (HT) refers to the number of days over the first 90 after stroke onset that a patient spends residing in their own home or a relative's home versus any institutional care. It is an accessible and objective parameter, free from subjective bias, with potential as an outcome measure in acute stroke trials. We sought to validate HT and assess treatment responsiveness using independent data. METHODS: We estimated HT in the Stroke Acute Ischemic NXY Treatment (SAINT) I neuroprotection trial. We compared outcomes between thrombolyzed (T) and nonthrombolyzed comparators (C) using HT and the modified Rankin Scale. For our primary analysis, we adjusted for baseline covariates that significantly influence HT and in sensitivity analyses considered all variables that differed between groups at baseline. We report ordinal logistic regression and analysis of covariance with 95% CIs. We describe the relationship of HT with baseline National Institutes of Health Stroke Scale and its components and with Day 90 modified Rankin Scale and Barthel Index. RESULTS: SAINT I included 1699 patients from 23 countries, of whom 28.7% received alteplase. HT correlated with age, baseline severity, alteplase use, side of ischemic lesion, presence of diabetes, and country of patient enrollment (each P<0.05). We found an association between use of alteplase with better adjusted outcomes by either measure (OR for extended HT, 1.36; 95% CI, 1.08 to 1.72; P=0.009; analysis of covariance P=0.007 with a 5.5-day advantage; OR for more favorable modified
Rankin Scale, 1.6; 95% CI, 1.28 to 2.00; P<0.0001; Cochran-Mantel-Haenszel P=0.046). HT was significantly associated with baseline National Institutes of Health Stroke Scale and each component of the National Institutes of Health Stroke Scale except level of consciousness, dysarthria, and ataxia. HT was significantly associated with Day 90 modified Rankin Scale and Barthel Index. CONCLUSIONS: HT is a responsive measure for use in multinational acute stroke trials. Its inclusion as a complementary outcome is reasonable. We propose treatment effects are adjusted for age, baseline National Institutes of Health Stroke Scale, side of stroke lesion, country of enrollment, and the presence of diabetes.FAU - Mishra, Nishant KAU - Mishra NKAD - Acute Stroke Unit, University of Glasgow, University Department of Medicine and Therapeutics, Gardiner Institute, Western Infirmary & Faculty of Medicine, University of Glasgow, Glasgow, UK G11 6NT. [email protected] - Shuaib, AshfaqAU - Shuaib AFAU - Lyden, PatrickAU - Lyden PFAU - Diener, Hans-ChristophAU - Diener HCFAU - Grotta, JamesAU - Grotta JFAU - Davis, StephenAU - Davis SFAU - Davalos, AntoniAU - Davalos AFAU - Ashwood, TimAU - Ashwood TFAU - Wasiewski, WarrenAU - Wasiewski WFAU - Lees, Kennedy RAU - Lees KRCN - Stroke Acute Ischemic NXY Treatment I TrialistsLA - engGR - CZB/4/595/Chief Scientist Office/United KingdomPT - Clinical Trial, Phase IPT - Comparative StudyPT - Journal ArticlePT - Randomized Controlled TrialPT - Research Support, Non-U.S. Gov'tPT - Validation StudiesDEP - 20110224PL - United StatesTA - StrokeJT - Stroke; a journal of cerebral circulationJID - 0235266RN - 0 (Fibrinolytic Agents)SB - IMMH - AgedMH - Brain Ischemia/*drug therapy/mortality/nursingMH - Cohort StudiesMH - Female
PMID- 20966389OWN - NLMSTAT- MEDLINEDA - 20110404DCOM- 20110729LR - 20131021IS - 1558-9102 (Electronic)IS - 1092-4388 (Linking)VI - 54IP - 2DP - 2011 AprTI - Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia.PG - 487-519LID - 10.1044/1092-4388(2010/10-0068) [doi]AB - PURPOSE: In this article, the authors address the hypothesis that the severe and persistent speech disorder reported in persons with galactosemia meets contemporary diagnostic criteria for childhood apraxia of speech (CAS). A positive finding for CAS in this rare metabolic disorder has the potential to impact treatment of persons with galactosemia and inform explanatory perspectives on CAS in neurological, neurodevelopmental, and idiopathic contexts. METHOD: Thirty-three youth with galactosemia and significant prior or persistent speech sound disorder were assessed in their homes in 17 states. Participants completed a protocol yielding information on their cognitive, structural, sensorimotor, language, speech, prosody, and voice status and function. RESULTS: Eight of the 33 participants (24%) met contemporary diagnostic criteria for CAS. Two participants, 1 of whom was among the 8 with CAS, met criteria for ataxic or
hyperkinetic dysarthria. Groupwise findings for the remaining 24 participants are consistent with a classification category termed Motor Speech Disorder-Not Otherwise Specified (Shriberg, Fourakis et al., 2010a). CONCLUSION: The authors estimate the prevalence of CAS in galactosemia at 18 per hundred-180 times the estimated risk for idiopathic CAS. Findings support the need to study risk factors for the high occurrence of motor speech disorders in galactosemia despite early compliant dietary management.FAU - Shriberg, Lawrence DAU - Shriberg LDAD - Waisman Center, Madison, WI, USA. [email protected] - Potter, Nancy LAU - Potter NLFAU - Strand, Edythe AAU - Strand EALA - engGR - DC000496/DC/NIDCD NIH HHS/United StatesGR - HD03352/HD/NICHD NIH HHS/United StatesGR - R01 DC000496-22/DC/NIDCD NIH HHS/United StatesGR - R01 DC000496-23/DC/NIDCD NIH HHS/United StatesGR - R01 DC000496-24/DC/NIDCD NIH HHS/United StatesPT - Journal ArticlePT - Research Support, N.I.H., ExtramuralDEP - 20101021PL - United StatesTA - J Speech Lang Hear ResJT - Journal of speech, language, and hearing research : JSLHRJID - 9705610SB - IMMH - AdolescentMH - AdultMH - Apraxias/*diagnosis/*epidemiologyMH - ChildMH - Child, PreschoolMH - CognitionMH - Galactosemias/diet therapy/*epidemiology/geneticsMH - Genes, RecessiveMH - GenotypeMH - HumansMH - PhenotypeMH - PhoneticsMH - PrevalenceMH - Risk FactorsMH - Speech Disorders/*diagnosis/*epidemiologyMH - Speech Production MeasurementMH - Young AdultPMC - PMC3070858MID - NIHMS238267OID - NLM: NIHMS238267OID - NLM: PMC3070858EDAT- 2010/10/23 06:00MHDA- 2011/07/30 06:00CRDT- 2010/10/23 06:00PHST- 2010/10/21 [aheadofprint]AID - 1092-4388_2010_10-0068 [pii]AID - 10.1044/1092-4388(2010/10-0068) [doi]PST - ppublish
SO - J Speech Lang Hear Res. 2011 Apr;54(2):487-519. doi: 10.1044/1092-4388(2010/10-0068). Epub 2010 Oct 21.
PMID- 20831378OWN - NLMSTAT- MEDLINEDA - 20100913DCOM- 20101230LR - 20131022IS - 1464-5076 (Electronic)IS - 0269-9206 (Linking)VI - 24IP - 10DP - 2010 OctTI - Extensions to the Speech Disorders Classification System (SDCS).PG - 795-824LID - 10.3109/02699206.2010.503006 [doi]AB - This report describes three extensions to a classification system for paediatric speech sound disorders termed the Speech Disorders Classification System (SDCS). Part I describes a classification extension to the SDCS to differentiate motor speech disorders from speech delay and to differentiate among three sub-types of motor speech disorders. Part II describes the Madison Speech Assessment Protocol (MSAP), an approximately 2-hour battery of 25 measures that includes 15 speech tests and tasks. Part III describes the Competence, Precision, and Stability Analytics (CPSA) framework, a current set of approximately 90 perceptual- and acoustic-based indices of speech, prosody, and voice used to quantify and classify sub-types of Speech Sound Disorders (SSD). A companion paper provides reliability estimates for the perceptual and acoustic data reduction methods used in the SDCS. The agreement estimates in the companion paper support the reliability of SDCS methods and illustrate the complementary roles of perceptual and acoustic methods in diagnostic analyses of SSD of unknown origin. Examples of research using the extensions to the SDCS described in the present report include diagnostic findings for a sample of youth with motor speech disorders associated with galactosemia, and a test of the hypothesis of apraxia of speech in a group of children with autism spectrum disorders. All SDCS methods and reference databases running in the PEPPER (Programs to Examine Phonetic and Phonologic Evaluation Records) environment will be disseminated without cost when complete.FAU - Shriberg, Lawrence DAU - Shriberg LDAD - Waisman Center, University of Wisconsin-Madison, Madison, WI, USA. [email protected] - Fourakis, MariosAU - Fourakis M
IS - 1760-1703 (Linking)VI - 8IP - 3DP - 2010 SepTI - [Multiple system atrophy].PG - 179-91LID - 10.1684/pnv.2010.0212 [doi]AB - Multiple system atrophy (MSA) is a sporadic neurodegenerative disorder of unknown etiology. It is the most frequent disorder among atypical parkinsonism with an estimated prevalence of 2 to 5 per 100 000 inhabitants. The clinical symptoms are rapidly progressing with a mean survival ranging between 6 to 9 years. The diagnosis is based on consensus criteria that have been revised in 2008. The diagnostic criteria allow defining "possible", "probable" and "definite" MSA. The latter requires post mortem confirmation of striatonigral and olivopontocerebellar degeneration with alpha-synuclein containing glial cytoplasmic inclusions. The diagnosis of "possible" and "probable" MSA is based on the variable presence and severity of parkinsonism, cerebellar dysfunction, autonomic failure and pyramidal signs. According to the revised criteria, atrophy of putamen, pons, middle cerebellar peduncle (MCP) or cerebellum on brain magnetic resonance imaging are considered to be additional features for the diagnosis of "possible" MSA. T2-weighted brain imaging may further reveal a putaminal hypointensity, a hyperintense lateral putaminal rim, the so called "hot cross bun sign" and MCP hyperintensities. Cardiovascular examination, urodynamic testing and anal sphincter electromyography may be helpful for the diagnosis of autonomic failure. Some patients may respond to levodopa, but usually to a lesser extent than those suffering from Parkinson's disease, and high doses are already required in early disease stages. No specific therapy is available for cerebellar dysfunction, while effective treatments exist for urinary and cardiovascular autonomic failure. Physical therapy may help to improve the difficulties of gait and stance, and to prevent their complications. In later disease stages, speech therapy becomes necessary for the treatment of dysarthria and dysphagia. Percutaneous gastrostomy is sometimes necessary in patients with severe dysphagia. Beyond these strategies, psychological support, social care and occupational therapy to adapt the environment to the patient's disability are prerequisites for improving the quality of life in MSA patients.FAU - Damon-Perriere, NathalieAU - Damon-Perriere NAD - Service de neurologie, Centre de reference national maladie rare atrophie multisystematisee, CHU de Bordeaux, Hopital du Haut-Leveque, Pessac.FAU - Tison, Francois
PMID- 20494279OWN - NLMSTAT- MEDLINEDA - 20100524DCOM- 20100824LR - 20131023IS - 1558-1381 (Electronic)IS - 1047-9651 (Linking)VI - 21IP - 2DP - 2010 MayTI - Communication and aging.PG - 309-19LID - 10.1016/j.pmr.2009.12.011 [doi]AB - People with communication disorders form a diverse group with some experiencing long-standing disorders and others the onset of new disorders in old age. Regardless of age at onset, the burden of communication disorders is cumulative and has important implications for health care providers. Communication se
rves many roles for older people, not only establishing and maintaining social affiliations but also providing access to health care services. Health care providers should be aware of potential communication disorders and make provision for quiet environments, reading materials at appropriate literacy levels, and longer appointments for people with communication difficulties.FAU - Yorkston, Kathryn MAU - Yorkston KMAD - Division of Speech Pathology, Department of Rehabilitation Medicine, University of Washington, Box 356490, Seattle, WA 98195-6490, USA. [email protected] <[email protected]>FAU - Bourgeois, Michelle SAU - Bourgeois MSFAU - Baylor, Carolyn RAU - Baylor CRLA - engGR - H133B080024/PHS HHS/United StatesGR - R03 DC010044-01/DC/NIDCD NIH HHS/United StatesPT - Journal ArticlePT - Research Support, N.I.H., ExtramuralPT - ReviewPL - United StatesTA - Phys Med Rehabil Clin N AmJT - Physical medicine and rehabilitation clinics of North AmericaJID - 9102787SB - IMMH - AgedMH - Aged, 80 and overMH - Aging/*physiology/psychologyMH - *CommunicationMH - Communication BarriersMH - Communication Disorders/diagnosis/epidemiology/*rehabilitationMH - Dysarthria/diagnosis/rehabilitationMH - FemaleMH - Geriatric AssessmentMH - Health BehaviorMH - Health Services AccessibilityMH - HumansMH - IncidenceMH - *Interpersonal RelationsMH - MaleMH - Memory Disorders/diagnosis/rehabilitationMH - Professional-Patient RelationsMH - *Quality of LifeMH - Risk AssessmentMH - Sensation Disorders/diagnosis/rehabilitationRF - 50PMC - PMC3074568MID - NIHMS280809OID - NLM: NIHMS280809OID - NLM: PMC3074568EDAT- 2010/05/25 06:00MHDA- 2010/08/25 06:00CRDT- 2010/05/25 06:00AID - S1047-9651(09)00119-3 [pii]
AID - 10.1016/j.pmr.2009.12.011 [doi]PST - ppublishSO - Phys Med Rehabil Clin N Am. 2010 May;21(2):309-19. doi: 10.1016/j.pmr.2009.12.011.
PMID- 19223931OWN - NLMSTAT- MEDLINEDA - 20090723DCOM- 20091008LR - 20130828IS - 1476-5438 (Electronic)IS - 1018-4813 (Linking)VI - 17IP - 8DP - 2009 AugTI - A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.PG - 1092-6LID - 10.1038/ejhg.2009.12 [doi]AB - We present a patient with ataxia, retinitis pigmentosa, dysarthria, neurosensorial deafness, nystagmus and leukoencephalopathy. A novel heteroplasmic G to A transition at nucleotide 15 975 was found, affecting the T arm of the mitochondrial (mt) tRNA(Pro) gene. A biochemical analysis of respiratory chain enzymes in muscle revealed isolated complex I deficiency. This is the fourth pathogenic tRNA(Pro) point mutation to be associated with an mt disorder. The result highlights the importance of molecular dissection of mtDNA in patients with defined mt disorder and confirms the clinical and biochemical heterogeneity associated with tRNA(Pro) mutations.FAU - Da Pozzo, PaolaAU - Da Pozzo PAD - Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy.FAU - Cardaioli, ElenaAU - Cardaioli EFAU - Malfatti, EdoardoAU - Malfatti EFAU - Gallus, Gian NicolaAU - Gallus GNFAU - Malandrini, AlessandroAU - Malandrini AFAU - Gaudiano, CarmenAU - Gaudiano CFAU - Berti, GiannaAU - Berti GFAU - Invernizzi, FedericaAU - Invernizzi FFAU - Zeviani, MassimoAU - Zeviani MFAU - Federico, Antonio
AU - Federico ALA - engPT - Case ReportsPT - Journal ArticlePT - Research Support, Non-U.S. Gov'tDEP - 20090218PL - EnglandTA - Eur J Hum GenetJT - European journal of human genetics : EJHGJID - 9302235RN - 0 (RNA, Transfer, Pro)RN - EC 1.6.5.3 (Electron Transport Complex I)SB - IMMH - Age of OnsetMH - Ataxia/complications/epidemiology/*geneticsMH - Base SequenceMH - Brain Diseases/complications/*geneticsMH - Deafness/complications/*geneticsMH - Electron Transport Complex I/deficiency/*geneticsMH - FemaleMH - Genes, MitochondrialMH - Hearing Loss, Sensorineural/geneticsMH - HumansMH - Middle AgedMH - Molecular Sequence DataMH - Mutation, MissenseMH - Nucleic Acid ConformationMH - Nystagmus, Congenital/complications/geneticsMH - PedigreeMH - RNA, Transfer, Pro/*geneticsMH - Retinitis Pigmentosa/complications/*geneticsPMC - PMC2986557OID - NLM: PMC2986557EDAT- 2009/02/19 09:00MHDA- 2009/10/09 06:00CRDT- 2009/02/19 09:00PHST- 2009/02/18 [aheadofprint]AID - ejhg200912 [pii]AID - 10.1038/ejhg.2009.12 [doi]PST - ppublishSO - Eur J Hum Genet. 2009 Aug;17(8):1092-6. doi: 10.1038/ejhg.2009.12. Epub 2009 Feb 18.
