Index

Note: Page numbers of article titles are in boldface type.

A

Abetalipoproteinemia, 742–743

Adeno-associated viral vectors

for lysosomal storage disorders, 887

gene therapy for CNS in, 892–893

Adenovirus(es)

gene therapy for CNS in, 892

Adenovirus vectors

for lysosomal storage disorders, 886–887

Alzheimer’s disease

familial, 781–790

amyloid angiopathies related to, 781–790

genotype-specific therapy for, 877–878

Amyloid angiopathies

Alzheimer’s disease–related, 781–790

Angiopathy(ies)

amyloid

Alzheimer’s disease–related, 781–790

Ataxia(s)

genetic, 727–757. See also Genetic ataxias.

Autosomal dominant ataxia, 728–738

Autosomal dominant disorders

neurogenetic, 628

Autosomal recessive ataxia

with childhood and juvenile onset, 740–745

Autosomal recessive diseases

neurogenetic, 628

Axonal neuropathies

neurons and, 679–680

B

Bassen-Kornzweig disease, 742–743

Becker muscular dystrophy, 646–651

Neurol Clin N Am 20 (2002) 903–916

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PII: S 0 7 3 3 - 8 6 1 9 ( 0 2 ) 0 0 0 2 6 - 9

Bethlem myopathy, 665

Biochemical genetic testing

in neurogenetic disease, 633–634

Bone marrow transplantation

for lysosomal storage disorders, 884

Brain

transplantation of genetically modified cells into

in gene therapy for CNS in lysosomal storage disorders,

893–895

British and Danish familial dementia, 799–800

C

CADASIL. See Cerebral autosomal dominant arteriopathy with subcorticol

infarcts and leukoencephalopathy (CADASIL).

Central core disease, 665–666

Central nervous system (CNS)

in lysosomal storage disorders

gene therapy for, 879–901. See also Lysosomal storage disorders,

gene therapy for CNS in.

Cerebellar ataxia

early onset

with retained reflexes, 741–742

Cerebral autosomal dominant arteriopathy with subcorticol infarcts

and leukoencephalopathy (CADASIL), 800–805

Charlevoix-Saguenay

spastic ataxia of, 743–744

CMT1

EGR2 mutations and, 696–697

CMT1A

PMP22 duplication and, 690–691

PMP22 mutations and, 691–692

CMT1B

MPZ mutations and, 692–695

CMT1X

GJB1 mutations and, 695–696

CMT2-like phenotype

MPZ mutations and, 692–695

Cockayne’s syndrome, 744–745

Complex genetic disease, 870–872

Congenital and metabolic ataxia, 745–747

904 Index / Neurol Clin N Am 20 (2002) 903–916

Congenital muscular dystrophies, 661–667. See also specific disorder

and Muscular dystrophies, congenital.

Counseling

genetic. See Genetic counseling.

Creutzfeldt-Jakob disease, 795–799

Cytogenetic testing

in neurogenetic disease, 634

D

Dementia(s)

inherited, 779–808. See also Inherited dementias.

Demyelinating neuropathies

myelinating Schwann cells and, 680–684

Distal myopathies, 668–671

Laing distal myopathy, 669

Miyoshi myopathy, 669

myofibillary myopathy/desmin-related myopathy, 669–671

tibial muscular dystrophy, 668–669

Welander distal myopathy, 668

Dopa-responsive dystonia, 774–775

DRPLA, 738–739

DSS

EGR2 mutations and, 696–697

MPZ mutations and, 692–695

PMP22 mutations and, 691–692

Duchenne muscular dystrophy, 646–651

Dystonia, 772

dopa-responsive, 774–775

DYT1, 772–773

Dystonia-parkinsonism, 773

E

Early-onset cerebellar ataxia with retained reflexes, 741–742

EGR2 mutations

CMT1 caused by, 696–697

DSS caused by, 696–697

Emery-Dreifuss muscular dystrophy, 656–657

Enzyme replacement therapy

for lysosomal storage disorders, 883–884

Episodic ataxia, 739–740

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Ethical issues

in neurogenetic disease diagnostic testing, 639–641

Exercise physiology

in mitochondrial disorder detection, 825

F

Facioscapulohumeral muscular dystrophy, 655–656

Familial fatal insomnia, 798–799

Familial prion diseases, 795–799

Familial spastic paraplegia, 711–726. See also Hereditary spastic paraplegia.

Friedreich’s ataxia, 740–741

Frontotemporal dementias, 790–795

tauopathies related to, 790–795

Fukuyama muscular dystrophy, 664

G

Gene(s)

and diseases, 869–872

Gene expression studies, 872–876

high-density synthetic oligonucleotide arrays in, 873–874

profiling gene expression in regions of brain in, 875–876

spotted cDNA microarrays in, 874–875

technologies in

overview of, 872–873

Gene therapy

for CNS in lysosomal storage disorders, 879–901. See also Lysosomal

storage disorders, gene therapy for CNS in.

GeneTests

clinical tests for neurogenetic diseases at, 636–637

Genetic(s), 867–877

of mitochondria, 813–815

heteroplasmy, mitotic segregation and threshold effect, 814–815

maternal inheritance and, 813

of neurofibromatosis 1, 855

Genetic ataxias, 727–757. See also specific types, e.g., Spinocerebellar ataxias.

abetalipoproteinemia, 742–743

ataxia with vitamin E deficiency, 742

autosomal dominant ataxia, 728–738

autosomal recessive ataxia

with childhood and juvenile onset, 740–745

Cockayne’s syndrome, 744–745

congenital and metabolic ataxia, 745–747

906 Index / Neurol Clin N Am 20 (2002) 903–916

defective DNA repair–related disorders, 744–745

diagnosis of

strategies in, 748–750

DRPLA, 738–739

episodic ataxia, 739–740

Friedreich’s ataxia, 740–741

mitochondrial disorders, 747

peroxisomal disorders, 747

recessive ataxia with ocular motor apraxia, 743

spastic ataxia of Charlevoix-Saguenay, 743–744

spinocerebellar ataxias, 728–738

sporadic ataxia, 747–748

trichothiodystrophy, 745

Xeroderma pigmentosum, 744

X-linked ataxia, 745

Genetic counseling

in hereditary spastic paraplegia, 719–720

in neurogenetic disease, 623–625

Genetic diseases

of muscle, 645–678. See also Muscle(s), genetic diseases of.

Genetic testing

in neurogenetic disease, 625

biochemical, 633–634

cytogenetic, 634

molecular, 632–633

Genomic(s), 867–877

Genomic disorders

neurogenetic, 629–630

Gerstmann-Straussler-Scheinker disease, 795–799

GJB1 mutations

CMT1X caused by, 695–696

Glioma(s)

optic pathway

in neurofibromatosis 1, 849–851

H

Hallervorden-Spatz syndrome, 769–770

Hereditary ataxias, 727–757. See also Genetic ataxias.

Hereditary spastic paraplegia, 711–726

classification of, 711

clinical features of, 712

diagnosis of

implications of, 714

differential diagnosis of, 715

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Hereditary spastic (continued)

genetic analysis in, 715–719

genetic counseling in, 719–720

laboratory evaluation in, 714

muscle biopsy in, 715

mutations in genes of

laboratory testing for, 719

neuroimaging in, 714

neurologic examination in, 712–713

neurophysiologic evaluation in, 714

prognosis of, 713

symmetry in, 712

symptoms of, 712–713

treatment of, 720

Herpes simplex virus (HSV) vectors

for lysosomal storage disorders, 885–886

Herpesvirus(es)

gene therapy for CNS in, 891–892

Heteroplasmy

defined, 814

skewed

described, 814–815

High-density synthetic oligonucleotide arrays

in gene expression studies, 873–874

HNPP

PMP22 deletions and, 689–690

PMP22 mutations and, 691–692

Homoplasmy

defined, 814

Huntington’s disease, 762–765

clinical features of, 762

genetic testing in, 763–764

genetics of, 763

juvenile, 762–763

pathologic studies of, 764

treatment of, 764–765

I

Inherited dementias, 779–808. See also specific disorders, e.g., Alzheimer’s

disease, familial.

British and Danish familial dementia, 799–800

CADASIL, 800–805

familial prion diseases, 795–799

frontotemporal dementias, 790–795

908 Index / Neurol Clin N Am 20 (2002) 903–916

Inherited movement disorders, 759–778. See also specific disorder,

e.g., Huntington’s disease.

dopa-responsive dystonia, 774–775

dystonia, 772–773

dystonia-parkinsonism, 773

Hallervorden-Spatz syndrome, 769–770

Huntington’s disease, 762–765

myoclonus-dystonia syndrome, 773–774

neuro-acanthocytosis, 771–772

Parkinson’s disease, 765–768

paroxysmal kinesogenic choreoathetosis, 770–771

Wilson’s disease, 768–769

Inherited neuropathies, 679–709

classification of, 685–689

problems associated with, 687–689

dominantly axonal (CMT2), 697–698

molecular diagnosis of, 699–700

recessively axonal, 699

recessively demyelinating (CMT4), 698–699

therapeutic implications in, 699–700

Insomnia

familial fatal, 798–799

Intergenomic signaling

disorders of, 822–824

L

Laing distal myopathy, 669

Lentivirus

gene therapy for CNS in, 893

Lentivirus vectors

for lysosomal storage disorders, 888–889

Limb-girdle muscular dystrophies, 651–655

autosomal dominant, 651–652

autosomal recessive, 652–655

Long QT syndrome

genotype-specific therapy for, 877

Lysosomal storage disorders

bone marrow transplantation for, 884

current therapies for, 883–885

enzyme replacement therapy for, 883–884

gene therapy for CNS in, 879–901

adeno-associated viral vectors, 892–893

adenovirus, 892

direct viral vector delivery, 891

909Index / Neurol Clin N Am 20 (2002) 903–916

Lysosomal storage (continued)

gene transfer into hemtopoietic cells, 889–891

herpesvirus, 891–892

lentivirus, 893

systemic, 889–891

transplantation of genetically modified cells into brain, 893–895

viral vectors of, 884–889. See also Viral vectors, for lysosomal

storage disorders.

M

Machado-Joseph disease, 734

Malignancy(ies)

neurofibromatosis 1–related, 851

Markesbery-Griggs/Udd, 668–669

Mendelian disease, 869–870

Merosin-deficient congenital muscular dystrophy, 662

Mitochondria

functions of, 812–813

genetics of, 813–815

Mitochondria DNA point mutations, 816–819

Mitochondrial diseases, 747, 809–839. See also specific disorder,

e.g., Respiratory chain disorders.

biochemical analyses in, 827–828

clinical features of, 815–824

diagnostic modalities in, 824–827

exercise physiology in, 825

genetic classification of, 812

laboratory tests in, 824–825

muscle biopsy in, 825–827

neurogenetic, 629

neuroradiology in, 825

prenatal diagnosis of, 833

respiratory chain disorders, 811–833. See also Respiratory chain disorders.

treatment of, 816, 828–833

Mitotic segregation

defined, 814

Miyoshi myopathy, 669

Molecular genetic testing

in neurogenetic disease, 632–633

Movement disorders

inherited, 759–778. See also Inherited movement disorders.

MPZ mutations

CMT1B caused by, 692–695

910 Index / Neurol Clin N Am 20 (2002) 903–916

CMT2-like phenotype caused by, 692–695

DSS caused by, 692–695

Muscle(s)

genetic diseases of, 645–678

congenital muscular dystrophies and myopathies, 661–667

distal myopathies, 668–671

myotonic dystrophies, 658–661

Muscle biopsy

in mitochondrial disorder detection, 825–827

Muscle-eye-brain disease, 664–665

Muscular dystrophies, 646–658. See also specific disorders, e.g., Duchenne

muscular dystrophy.

Becker muscular dystrophy, 646–651

congenital, 661–667. See also specific disorder.

Bethlem myopathy, 665

central core disease, 665–666

Fukuyama muscular dystrophy, 664

MDClA, 662

MDClC, 662–664

merosin-deficient, 662

muscle-eye-brain disease, 664–665

myotubular myopathy, 666–667

nemaline myopathy, 667

rigid spine muscular dystrophy, 665

Ullrich scleromatic muscular dystrophy, 665

Duchenne muscular dystrophy, 646–651

Emery-Dreifuss muscular dystrophy, 656–657

facioscapulohumeral muscular dystrophy, 655–656

limb-girdle muscular dystrophies, 651–655

oculopharyngeal muscular dystrophy, 657–658

Mutation(s). See also specific types.

in neurogenetic disease

range of, 631–632

nDNA, 819–822

point

mitochondria DNA, 816–819

Myelinating Schwann cells

and demyelinating neuropathies, 680–684

Myoclonus-dystonia syndrome, 773–774

Myofibillary myopathy/desmin-related myopathy, 669–671

Myopathy(ies)

Bethlem, 665

distal, 668–671. See also specific disorder and Distal myopathies.

Miyoshi, 669

911Index / Neurol Clin N Am 20 (2002) 903–916

Myopathy(ies) (continued)

myotubular, 666–667

nemaline, 667

proximal myotonic, 660–661

Myotonic dystrophies, 658–661

type 1, 658–660

type 2, 660–661

Myotubular myopathy, 666–667

N

nDNA

mutations in, 819–822

Nemaline myopathy, 667

Neuro-acanthocytosis, 771–772

Neurofibroma(s)

in neurofibromatosis 1, 846–849

Neurofibromatosis 1 (NF1), 841–865

clinical features of, 845–846

clinical syndrome of, 844–845

diagnostic criteria in, 844–845

genetics of, 855

historical perspective of, 843–844

incidence of, 844

malignancies associated with, 851

neurofibromas in, 846–849

neurologic complications of, 851–853

non-neurologic features of, 853–854

optic pathway gliomas in, 849–851

treatment of, 861–862

experimental, 862

variant presentations of, 854–855

Neurofibromatosis 1 (NF1) gene

identification of, 856–860

Neurofibromin

identification of, 856–860

Neurogenetic disease

approach to patient with, 619–626

autosomal dominant disorders, 628

autosomal recessive diseases, 628

diagnostic testing in, 627–643

ethical issues in, 639–641

genetic tests in, 632–634

limitations of, 639–641

pitfalls in, 639–641

912 Index / Neurol Clin N Am 20 (2002) 903–916

family history in

importance of, 621

genetic couseling in, 623–625

genetic disorders, 629–630

genetic testing in, 625

indications of, 619–620

information resources about, 625–626

mitonchondrial diseases, 629

modes of inheritance in, 627–631

polygenic disorders, 630–631

range of mutations in, 631–632

repeat expansion diseases, 630

reservoirs of, 620–621

sporadic cases of, 621–623

X-linked disorders, 628–629

Neuron(s)

and axonal neuropathies, 679–680

Neuropathy(ies)

axonal

neurons and, 679–680

demyelinating

myelinating Schwann cells and, 680–684

inherited, 679–709. See also specific disorder and Inherited neuropathies.

Neuroradiology

in mitochondrial disorder detection, 825

O

Ocular motor apraxia

recessive ataxia with, 743

Oculopharyngeal muscular dystrophy, 657–658

Optic pathway gliomas

in neurofibromatosis 1, 849–851

P

Parkinson’s disease

clinical features of, 765–766

genes causing, 766–767

genetic forms of

diagnosis and management of, 768

twin and sibling studies in, 766

Paroxysmal kinesogenic choreoathetosis, 770–771

Peroxisomal disorders, 747

Pharmacogenomics, 876–878

913Index / Neurol Clin N Am 20 (2002) 903–916

PMP22 deletions

HNPP caused by, 689–690

PMP22 duplication

CMT1A caused by, 690–691

PMP22 mutations

CMT1A caused by, 691–692

DSS caused by, 691–692

HNPP caused by, 691–692

Point mutations

mitochondria DNA, 816–819

Polygenic disorders

neurogenetic, 630–631

Prion diseases

familial, 795–799

Profiling gene expression

in brain

in gene expression studies, 875–876

Proximal myotonic myopathy, 660–661

R

Recessive ataxia

with ocular motor apraxia, 743

Repeat expansion diseases

neurogenetic, 630

Respiratory chain disorders, 811–833

biochemistry of, 827–828

clinical features of, 815–824

diagnostic modalities in, 824–827

exercise physiology of, 825

laboratory tests in, 824–825

muscle biopsy of, 825–827

neuroradiology of, 825

prenatal diagnosis of, 833

treatment of, 828–833

Retrovirus vectors

for lysosomal storage disorders, 887–888

Rigid spine muscular dystrophy, 665

S

Sarcoglycanopathies, 652–655

Schwann cells

myelinating

and demyelinating neuropathies, 680–684

914 Index / Neurol Clin N Am 20 (2002) 903–916

Spastic ataxia of Charlevoix-Saguenay, 743–744

Spinocerebellar ataxias, 728–738

early-onset cerebellar ataxia with retained reflexes, 741–742

SCA1, 731

SCA2, 734

SCA3, 734

SCA4, 734

SCA5, 734

SCA6, 734–735

SCA7, 735–736

SCA8, 736–737

SCA11, 737

SCA12, 737

SCA13, 737–738

SCA14, 738

SCA15, 738

SCA16, 738

SCA17, 738

SCA20, 737

Sporadic ataxia, 747–748

Spotted cDNA microarrays

in gene expression studies, 874–875

T

Tauopathy(ies)

frontotemporal dementia–related, 790–795

Tibial muscular dystrophy, 668–669

Transplantation

bone marrow

for lysosomal storage disorders, 884

Trichothiodystrophy, 745

U

Ullrich scleromatic muscular dystrophy, 665

V

Viral vectors

for lysosomal storage disorders, 884–889

adeno-associated virus vectors, 887

adenovirus vectors, 886–887

herpes simplex virus vectors, 885–886

lentivirus vectors, 888–889

retrovirus vectors, 887–888

915Index / Neurol Clin N Am 20 (2002) 903–916

Vitamin E deficiency

ataxia with, 742

W

Welander distal myopathy, 668

Wilson’s disease, 768–769

clinical diagnosis of, 769

clinical features of, 768

genetics of, 768–769

treatment of, 769

X

Xeroderma pigmentosum, 744

X-linked ataxia, 745

X-linked disorders

neurogenetic, 628–629

916 Index / Neurol Clin N Am 20 (2002) 903–916