Name: Metabolic and Degenerative Diseases of the Central Nervous System
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ISBN: 9780121652500

Preface

xvii

Preliminary Remarks

xix

PART I Metabolic Diseases of the Nervous System

Introduction

Fundamentals of Metabolic Diseases

(1)

Lysosomal Storage Diseases

(2)

Disorders of Other Organelles

(1)

Enzymopathies

(6)

Classification of Metabolic Diseases

(1)

Genetics of Metabolic Diseases

(3)

Phenotype and Genotype

(1)

Abbreviations of Amino Acids

(1)

Disorders of Carbohydrate Metabolism

Monosaccharidoses

(2)

Energy Metabolism of the Nervous System

(1)

Gluconeogenesis

(1)

Glucose Catabolism

(1)

Hyperglycemias

(6)

Diabetes Mellitus

(6)

Hypoglycemias

(7)

Primary Hypoglycemias

(3)

Secondary Hypoglycemias

(1)

Galactosemias

(2)

Fructosurias

(1)

Disorders of the Respiratory Chain

(26)

Pyruvate Dehydrogenase Deficiency (Pyruvate Decarboxylase Deficiency; L-Decarboxylase Deficiency)

(1)

Cerebral Lactic Acidosis

(1)

Mitochondrial Encephalomyopathies

(24)

Glycoproteinoses (Oligosaccharidoses)

(27)

β-Aspartyl-N-glucosaminidase Deficiency (Aspartylglycosaminuria)

(2)

Mannosidoses

(4)

Fucosidosis

(3)

Sialidosis (Sialooligosaccharidosis with α-Neuraminidase Deficiency; Mucolipidosis I; Myoclonic Syndrome with Cherry-Red Spot)

(4)

Nephrosialidosis

(4)

Galactosialidosis (Neuraminidase/β-Balactosidase Deficiency)

(4)

Carbohydrate-Deficient Glycoprotein Syndrome

(1)

Sialuria (UDP-N-acetylgucosamine 2-Epimerase Deficiency)

(1)

Infantile Sialic Acid Storage Disease

(1)

Salla Disease (Storage of N-Acetylneuraminic Acid)

(2)

Hancock-Type Sialidosis

(1)

Schindler's Disease (α-N-Acetylgalactosaminidase Deficiency)

(1)

Polysaccharidoses

(24)

Biochemistry of Glycogen

(1)

Morphology of Glycogen

(1)

Topographical Distribution of Glycogen in the Central Nervous System

(1)

Glycogenoses

(10)

Polyglucosan Inclusions in Nervous Tissues

(1)

Lafora's Disease (Progressive Myoclonic Epilepsy; Unverricht-Lundborg's Disease; Myoclonus Body Disease)

(12)

Disorders of Glycosaminoglycan Metabolism (Mucopolysaccharidoses)

Biochemistry and Occurrence of Glycosaminoglycans

110

(1)

Pathobiochemistry and Classification of Mucopolysaccharidoses

111

(1)

Mucopolysaccharidosis I-H (α-L-Iduronidase Deficiency)

112

(9)

Hurler Syndrome (Pfaundler-Hurler Syndrome; Gargoylism)

112

(3)

Mucopolysaccharidosis I-S (α-L-Iduronidase Deficiency; Scheie's Syndrome)

115

(3)

Intermediate Type of Mucopolysaccharidosis I (Mucopolysaccharidosis I-H/S)

118

(3)

Mucopolysaccharidosis II (Iduronate 2-Sulfatase Deficiency; Hunter's Syndrome)

121

(3)

Mucopolysaccharidosis III (Sanfilippo's Syndrome; Mucopolysaccharidosis I-H/S)

124

(2)

Mucopolysaccharidosis IV (Morquio's Syndrome)

126

(5)

Mucopolysaccharidosis VI (Arylsulfatase B Deficiency; Maroteaux-Lamy Syndrome)

131

(1)

Mucopolysaccharidosis VII (β-Glucuronidase Deficiency)

132

(2)

Oculocebrorenal Syndrome (Lowe Syndrome)

134

(3)

Mucolipidoses

Mucolipidosis II (I-Cell Disease)

137

(2)

Mucolipidosis III (Pseudo-Hurler Polydystrophy; I-Cell Disease Type 2)

139

(1)

Mucolipidosis IV

140

(4)

Disorders of Amino Acid Metabolism

Disorders of Amino Acid Transport

144

(1)

Disturbances of Amino Acid Catabolism

145

(1)

Metabolic Disorders of the Urea Cycle

Hyperammonemias

146

(12)

Carbamoyl-phosphate Synthetase Deficiency (Congenital Hyperammonemia Type I)

147

(2)

Ornithine Carbamoyltransferase Deficiency (Ornithine Transcarbamylase Deficiency: Congenital Hyperammonemia Type II)

149

(1)

Argininosuccinate Synthase Deficiency (Citrullinemia)

150

(3)

Argininosuccinate Lyase Deficiency (Argininosuccinase Deficiency; Argininosuccinicaciduria; Argininosuccinate Retardation)

153

(1)

Arginase Deficiency (Argininemia)

154

(1)

Reye's Syndrome

154

(4)

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (Familial Reye-like Syndrome)

158

(1)

Hyperornithinemias

159

(1)

Ornithine-Aminotransferase Deficiency (Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome)

159

(1)

Ornithine-Oxo-acid Aminotransferase Deficiency

159

(1)

Metabolic Disorders of Branched-Chain Amino Acids

160

(8)

Maple Syrup Urine Disease (Branched-Chain Ketoaciduria)

160

(3)

Variants of Maple Syrup Urine Disease

163

(2)

Conditions Related to Maple Syrup Urine Disease

165

(3)

Hyperphenylalaninemias

168

(8)

Type I: Phenylketonuria (Phenylalanine Hydroxylase Deficiency; Phenylalanine 4-Monooxygenase Deficiency; Oligophrenia Phenylpyruvica; Følling Disease)

169

(5)

Type IV: Dihydropteridine Reductase Deficiency (Malignant Hyperphenylalaninemia)

174

(1)

Type V: Dihydrobiopterin Synthetase Deficiency

175

(1)

Type VI: Hyperphenylalaninemia and Tyrosinemia

176

(1)

Disorders of Sulfamino Acid Metabolism

176

(9)

Homocystinuria (Cystathionine β-synthase Deficiency)

176

(2)

Cystinosis

178

(2)

Sulfite Oxidase Deficiency (Molybdenum Cofactor Deficiency)

180

(1)

Disorders of Folate Metabolism

181

(4)

Other Inborn Errors of Amino Acid Metabolism

185

(14)

Hyperglycinemias

185

(5)

Disorders of the Glutamyl Cycle

190

(4)

Disorders of Lysine Metabolism

194

(3)

Richner-Hanhart Syndrome (Palmoplantar Keratosis with Corneal Dystrophy and Mental Retardation; Tyrosinosis Type II)

197

(1)

Hartnup Disease

198

(1)

Disorders of Protein Metabolism

Amyloidoses (β-Fibrilloses)

199

(22)

Primary Systemic Amyloidosis (Immunocytic Amyloidoses; Paramyloidosis; Amyloidosis of Monoclonal Gammopathies)

202

(1)

Familial Amyloid Polyneuropathies

203

(3)

Sporadic Amyloid Neuropathies

206

(1)

Systemic Amyloidosis with Central Nervous System Participation

206

(1)

Cerebral Amyloid Angiopathy (Primary Cerebrovascular Amyloidosis; Plaque-like Degeneration of the Cerebral Vessels---Scholz; Dysoric Angiopathy---Morel and Wildi; Congophilic Angiopathy---Pantelakis)

207

(3)

Forms with Intracerebral Hemorrhages

210

(2)

Hereditary Cerebral Hemorrhage with Amyloidosis

212

(1)

Cerebral Amyloid Angiopathy with Leukoencephalopathy

212

(4)

Other Disorders of Protein Metabolism

216

(2)

Monoclonal Gammopathies (Paraproteinemias)

218

(3)

Disorders of Lipid Metabolism

Introduction

221

(1)

Terminology

221

(1)

Classification

221

(1)

Primary Abnormalities of Blood Lipids

222

(17)

Hyperlipoproteinemias

222

(9)

Hypolipoproteinemias

231

(4)

Multisystem Neuronal Degeneration with Fatty Acid Deficiency

235

(3)

Systemic Carnitine Deficiency (Lipid Storage Myopathy Type I)

238

(1)

Sphingolipidoses

239

(14)

Sphingomyelinoses (Niemann-Pick Disease; Phospholipidosis Type I)

240

(13)

Metachromatic Leukodystrophy (Scholz-Bielschowsky-Henneberg Type of Leukodystrophy; Norman-Greenfield Type of Leukodystrophy)

253

(21)

Congenital Form

255

(1)

Infantile and Late Infantile Forms

256

(8)

Juvenile Form

264

(2)

Adult Form

266

(5)

Multiple Sulfatase Deficiency (Mucosulfatidosis; Austin Type of Metachromatic Leukodystrophy; Variant 0 of Metachromatic Leukodystrophy)

271

(2)

Metachromatic Leukodystrophy with Activator Protein Deficiency (AB Variant)

273

(1)

Arylsulfatase A Pseudodeficiency

274

(1)

Globoid Cell Leukodystrophy (Krabbe's Disease; Cerebroside β-Galactosidase Deficiency)

274

(11)

Infantile Form

274

(7)

Juvenile Form

281

(2)

Adult Form

283

(2)

Gaucher's Disease (Glucosylceramidase Deficiency)

285

(8)

Type I (Chronic, Adult, Nonneuropathic Form)

285

(3)

Type 2 (Acute Malignant Form with Neurological Symptoms; Cerebral Form; Infantile Form)

288

(1)

Type 3 (Subacute Juvenile Form with Neurological Deficit)

289

(4)

Ceramidase Deficiency (Disseminated Lipogranulomatosis; Farber Disease)

293

(4)

Globotriosylceramidosis (α-Galactosidase A Deficiency; Fabry's Disease; Anderson-Fabry Disease; Angiokeratoma Corporis Diffusum)

297

(3)

Gangliosidoses

300

(36)

GM1 Gangliosidoses (β-Galactosidase Deficiency)

302

(7)

GM2 Gangliosidoses

309

(26)

GM3 Gangliosidosis

335

(1)

Disorders of Long-Chain Fatty Acid Metabolism (Peroxisomal Diseases)

336

(27)

Cerebrohepatorenal Syndrome (Zellweger Syndrome)

337

(2)

Neonatal Adrenoleukodystrophy

339

(4)

Infantile Refsum Disease

343

(1)

Hyperpipecolinemia

343

(3)

Adrenoleukomyeloneuropathy (Infantile and Juvenile Forms)

346

(3)

Adrenoleukomyeloneuropathy in Adults

349

(3)

Adrenoleukomyelodystrophy in Females

352

(4)

Orthochromatic Leukodystrophy with Epithelioid Cells (Norman-Gullota Type; Orthochromatic Leukodystrophy with a Predilection for the Cerebellum and the Brain Stem)

356

(1)

Refsum Disease (Heredopathia Atactica Polyneuritiformis)

357

(6)

Lysosomal Disease of Unknown Pathogenesis

363

(33)

Ceroid Lipofuscinoses

364

(32)

Disorders of Purine Metabolism

Lesch-Nyhan Syndrome (Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency; Juvenile Gout with Cerebral Involvement; Catel-Schmidt Syndrome)

396

(4)

Other Hereditary Disorders of Purine Metabolism

400

(1)

Disorders of Mineral Metabolism

Disorders of Iron Metabolism

401

(6)

Hemochromatosis

402

(2)

Marginal Siderosis of the Central Nervous System (Subpial Siderosis of the Central Nervous System)

404

(2)

Siderosis of the Dentate Nucleus

406

(1)

Disorders of Copper Metabolism

407

(11)

Hepatolenticular Degeneration (Wilson's Disease; Westphal-Strumpell Pseudosclerosis; Wilson-Konowalow Disease)

407

(6)

Menke's Syndrome (Trichopoliodystrophy; Kinky Hair Disease)

413

(5)

Disorders of Calcium Metabolism

418

(9)

Striatodentatal Calcification (Fahr's Disease; Striatopallidal Calcification, Systemic Calcification of the Basal Ganglia; Idiopathic Nonarteriosclerotic Calcification of the Blood Vessels; Cerebrovascular Ferrocalcinosis)

419

(5)

Primary Hyperoxaluria

424

(3)

Disorders of Pigment Metabolism

Porphyrias

427

(3)

Hyperbilirubinemia

430

(7)

Kernicterus of the Newborn (Icterus Hemolyticus Neonatorum)

431

(1)

Kernicterus of Prematurity

432

(2)

Late Sequelae of Kernicterus (Posticteric Encephalopathy of Pentschew)

434

(1)

Kernicterus in Adults

435

(1)

Familial Nonhemolytic Kernicterus (Crigler-Najjar Syndrome; Glucuronosyltransferase Deficiency)

436

(1)

Melanosis of the Cerebellum (Melanosis of the Dentate Nucleus; Astrocytic Melanosis)

437

(5)

PART II Degenerative Diseases of the Central Nervous System

Introduction

Apoptosis and Growth Factors

442

(1)

Repair Mechanisms of DNA

443

(2)

Degenerative Diseases of the Cerebral Cortex and the White Matter

Alzheimer's Disease (Presenile Dementia; Alzheimer's Dementia; Senile Dementia of the Alzheimer Type)

445

(25)

Variants of Alzheimer's Disease

469

(1)

Pick's Disease (Pick-Type Atrophy; Presenile Frontotemporal Atrophy)

470

(6)

Lobar Atrophy without Pick Bodies (Dementia of the Frontal Lobe Type; Lobar Atrophy; Frontal Lobe Degeneration of Non-Alzheimer Type; Dementia Lacking Distinctive Histological Features; Variants of Pick's Disease)

476

(1)

Corticodentatonigral Degeneration with Neuronal Achromasia (Corticobasal Degeneration)

477

(2)

Progressive Aphasia and Aphasic Dementia

478

(1)

Primary Limbic Lobe Gliosis: Familial and Sporadic Cases

479

(1)

Alpers' Disease (Alpers' Syndrome; Progressive Cortical Poliodystrophy; Diffuse Progressive Cerebral Poliodystrophy; Diffuse Cortical Sclerosis; Spongy Glioneuronal Dystrophy of Childhood)

479

(4)

Microcephaly and Progressive Degeneration of the Cerebral Cortex

483

(1)

Diffuse Lewy Body Disease (Lewy Body Dementia; Lewy Body Variant of Alzheimer's Dementia)

483

(2)

Werner Syndrome (Progeria Adultorum)

485

(2)

Sudanophilic Leukodystrophies (Orthochromatic Leukodystrophies; Schilder's Disease; Simple Degenerative Diffuse Sclerosis---Hallervorden; Dysmyelinating Leukodystrophies---Poser)

487

(5)

Congenital Form

489

(1)

Infantile and Juvenile Forms

490

(1)

Adult Form

491

(1)

Pelizaeus-Merzbacher Disease

492

(5)

Congenital Form (Seitelberger Type)

492

(1)

Infantile and Late Infantile Forms (Classical Form of Orthochromatic Leukodystrophy of the Pelizaeus-Merzbacher Type)

493

(1)

Adult Form (Cases of Late Onset; Lowenberg-Hill Type)

494

(3)

Complex Syndromes with Orthochromatic Leukodystrophy

497

(9)

Orthochromatic Leukodystrophy with Menigeal Angiomatosis

497

(1)

Dermatoleukodystrophy with Neuroaxonal Spheroids

498

(1)

Sudanophilic Leukodystrophy with Microcephaly and Calcification

499

(1)

Infantile Familial Encephalopathy with Cerebral Calcifications and Leukodystrophy (Laubenthal-Hallervorden Syndrome)

500

(1)

Pena-Shokeir Syndrome Type II (Cerebrooculofacial Skeletal Syndrome)

501

(1)

Cockayne's Syndrome (Cockayne-Neil-Dingwall Syndrome; Dwarfism with Retinal Atrophy and Deafness)

501

(2)

Cholesterol Ester Leukodystrophy (Yates)

503

(1)

Pigmented Form of Orthochromatic Leukodystrophy (Late Adult Form of Orthochromatic Leukodystrophy; Leukodystrophy with Pigmented Glial Cells)

504

(1)

Membranous Lipodystrophy (Hereditary Polycystic Osteodysplasia with Sclerosing Leukoencephalopathy; Nasu-Hakola Disease)

505

(1)

Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (Hereditary Multi-infarct Dementia; Chronic Familial Vascular Encephalopathy; Familial Binswanger Dementia; Familial Subcortical Dementia with Arteriopathic Leukoencephalopathy)

506

(1)

Neuroaxonal Dystrophies

507

(12)

Generalized Infantile Neuroaxonal Dystrophy (Seitelberger's Disease; Type III of Gilman and Barrett)

510

(4)

Generalized Late Infantile and Juvenile Neuroaxonal Dystrophies

514

(2)

Intermediate Generalized Form of Neuroaxonal Dystrophy (Type II of Gilman and Barrett)

516

(2)

Neuroaxonal Dystrophy in Adults (Neuroaxonal Leukodystrophy)

518

(1)

Alexander's Disease (Megalobarencephaly; Fibrinoid Leukodystrophy; Dysmyelinogenetic Leukodystrophy; Hyaline Panneuropathy)

519

(5)

Infantile Form

519

(2)

Juvenile Form

521

(1)

Adult Form

521

(3)

Progressive Subcortical Gliosis

524

(1)

Canavan's Disease (Infantile Spongy Dystrophy; Spongiform Leukodystrophy; Aspartoacylase Deficiency; N-Acetylaspartic Aciduria; van Bogaert-Bertrand Disease)

525

(4)

Degenerative Diseases of the Thalamus, Basal Ganglia, and Midbrain

Thalamic Degenerations

529

(1)

Infantile Form

529

(1)

Adult Form

530

(1)

Choreas

530

(13)

Huntington's Chorea (Hereditary Chorea; St. Vitus' Dance; Chorea Major; Huntigton's Disease)

530

(8)

Chorea-Acanthocytosis (Levine-Critchley Syndrome; Degeneration of the Basal Ganglia with Acanthocytosis; Amyotrophic Chorea)

538

(1)

Familial Striatal Degeneration (Holotopistic Striatal Necrosis)

539

(1)

Infantile Bilateral Striatal Necrosis

539

(1)

Other Choreiform Clinical Syndromes

540

(3)

Hallervorden-Spatz Disease (Neuroaxonal Dystrophy Type I of Gilman and Barrett; Localized Neuroaxonal Dystrophy; Progressive Pallidal Degeneration; Pigment-Spheroid Degeneration)

543

(3)

Parkinsonism

546

(17)

Parkinson's Disease (Paralysis Agitans, Parkinsonism With Lewy Bodies, Hereditary Shaking Palsy, Idiopathic Parkinsonism)

547

(9)

Juvenile Parkinsonism (Juvenile Paralysis Agitans of Hunt, Progressive Pallidal Atrophy)

556

(1)

Parkinson's Disease with Dementia

557

(2)

The Parkinson-Dementia Complex of Guam

559

(1)

Familial Variants of Parkinsonism

559

(4)

Striatonigral Degeneration (Striatopallidonigral Degeneration; Multisystem Atrophy of the Striatonigral Type; Parkinson Plus Syndrome)

563

(5)

Rett Syndrome

568

(5)

Degenerative Diseases of the Cerebellum, Brain Stem, and Spinal Cord (Spinocerebellar Degenerations)

Cerebellar Cortical Atrophies

573

(11)

Congenital Cerebellar Hypoplasia

573

(5)

Cerebellar Hypoplasia with Spinal Muscular Atrophy (Norman's Disease; Amyotrophic Cerebellar Hypoplasia; Barth Syndrome Type I)

578

(1)

Hereditary Cerebellar Cortical Atrophy (Holmes' Type of Spinocerebellar Degeneration; Late Parenchymatous Cerebellar Degeneration; Cerebelloolivary Atrophy of Critchley and Greenfield; Cerebellar Hypoplasia; Barth Syndrome Type I)

579

(3)

Cerebellar Ataxia and Hypogonadism (Boucher-Neuhauser Syndrome)

582

(1)

Congenital Cerebellar Cortical Atrophy of the Granule Cell Type (Congenital Nonprogressive Cerebellar Ataxia)

583

(1)

Congenital Granuloprival Hypoplasia of the Cerebellar and Hippocampal Cortices

583

(1)

Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy

584

(1)

Marinesco-Sjorgren's Syndrome (Oligophrenia; Cataract and Cerebellar Atrophy; Hereditary Oligophrenic Cerebellolentiform Degeneration; Marinesco-Garland Syndrome)

584

(4)

Sporadic Noncongenital, Cerebellar Cortical Atrophies

586

(2)

Olivopontocerebellar Atrophy

588

(15)

Hereditary Olivopontocerebellar Atrophy (Familial Pontoolivary Atrophy; Pontocerebellar Atrophy; Spinopontocerebellar Heredodegeneration of the Menzel Type; Hereditary Ataxia of Marie-Nonne)

589

(3)

Sporadic Olivopontocerebellar Atrophy (Dejerine-Thomas Type of Olivopontocerebellar Atrophy; Cerebellar Ataxia; Sclerosis of the Cerebellar White Matter)

592

(11)

Multisystem Atrophy and Related Conditions

603

(16)

Infantile Multisystem Atrophies

604

(1)

Progressive Supranuclear Palsy (Steele-Richardson-Olszewski Syndrome; Oculofacial Dystonia; Subcortical Argyrophillic Dystrophy; Subcortical Alzheimer's Syndrome)

604

(5)

Dentato-rubro-pallido-luysial Atrophy (Hereditary Dentato-rubro-pallido luysial Atrophy)

609

(4)

Dyssinergia Cerebellaris Myoclonica (Malignant Familial Myoclonus; Ramsay Hunt Syndrome)

613

(1)

Optico-cochleo-dentatal Degeneration (degenerescence Systematisee Optico-cochleo-dentelee)

614

(1)

Machado-Joseph Disease (Azorean Disease; Nigrospinodentatal Degeneration with Ophthalmoplegia)

615

(4)

Ataxia-Telangiectasia (Louis-Bar Syndrome)

619

(6)

Sjogren-Larsson Syndrome

621

(1)

Pallidonigroluysial Atrophy

622

(1)

Pallidonigrospinal Denegeration

622

(1)

Pyramido-thalamo-spinocerebellar Degeneration with Leukodystrophy

623

(1)

Degeneration of the Reticular Substance (Dyshomeostasis of the Neuraxis)

623

(1)

Spinopontine Degeneration

623

(1)

Multisystem Atrophy with Intranuclear Hyaline Inclusions

624

(1)

Predominantly Spinal Atrophies

Friedreich's Disease (Friedreich's Ataxia; Hereditary Spinal Ataxia; Pierre-Marie's Disease)

625

(4)

Hereditary Ataxia with Degeneration of the Posterior Columns and the Dorsal Roots (Biemond Syndrome; Degenerscence Radiculo-cordonnale Posterieure)

629

(1)

Xeroderma Pigmentosum (De Sanctis-Cacchione Syndrome; Xerodermic Idiocy)

630

(1)

Degeneration of the Posterior Columns and the Substania Nigra

631

(1)

Roussy-Levy Syndrome (Hereditary Areflexic Astasia; Posterior Root and Column Form of Spinocerebellar Degeneration)

631

(1)

Ataxia, Peripheral Neuropathy, Retinitis Pigmentosa, and Diabetes Mellitus

632

(1)

Ataxia with Optic Atrophy, Pes Cavus, and Pyramidal Signs

632

(1)

Ataxia, Myoclonus, and Deafness (May and White Syndrome)

633

(1)

Ataxia, Mental Deterioration, and Epilepsy with Tooth Enamel Hypoplasia (Kohlschuter's Syndrome)

633

(1)

Ataxia, Mental Retardation, Cataracts, Deafness, and Polyneuropathy

633

(1)

Atrophies of the Motor Neurons

Amyotrophic Lateral Sclerosis (Myatrophic Lateral Sclerosis; Progressive Bulbar Paralysis)

634

(14)

Sporadic Form

634

(11)

Familial Forms (Hirano-Kurland-Sayre Type; Lou Gehrig Disease)

645

(2)

Endemic Form (ALS-Parkinsonism-Dementia Complex of Guam)

647

(1)

Spastic Spinal Paralysis (Familial Spastic Paraplegia; Primary Lateral Sclerosis; Strumpell-Lorrain Disease)

648

(1)

X-Linked Recessive Bulbospinal Neuronopathy (Kennedy-Alter-Sung Syndrome)

649

(1)

Motor Neuron Disease and Dementia

650

(1)

Hereditary Dystonic paraplegia with Amyotrophy and Mental Retardation

651

(1)

Progressive External Ophthalmoplegic Amyotrophy

652

(1)

Laurence-Moon-Biedl Syndrome

652

(1)

Benign Focal Amyotrophy

652

(1)

Degeneration of the Lower Cranial Nerve Nuclei

653

(1)

Fazio-Londe Disease

653

(1)

Brown-Vialetto-van Laere Syndrome (Pontobulbar Paralysis with Deafness)

653

(1)

Spinal Muscular Atrophies

653

(11)

Congenital Spinal Muscular Atrophy

654

(1)

Infantile Type (Wernig-Hoffmann Disease; Infantile Acute Spinal Muscular Atrophy; Amyotonia Congenita of Oppenheim; Spinal Muscular Atrophy Type 1; Infantile Neuronal Degeneration)

654

(6)

Chronic Infantile Form (Intermediate Spinal Muscular Atrophy; Spinal Muscular Atrophy Type II)

660

(1)

Juvenile Type (Wohlfart-Kugelberg-Welander Disease; Pseudomyopathic Spinal Muscular Atrophy; Chronic Proximal Spinal Muscular Atrophy; Type III Spinal Muscular Atrophy)

660

(1)

Adult Type (Duchenne-Aran Disease; Vulpian-Bernhardt Disease; Scapuloperoneal Syndrome; Spinal Muscular Atrophy Type IV)

661

(3)

Peripheral and Autonomic Neuropathies with Involvement of the Central Nervous System

Charcot-Marie-Tooth Disease (Progressive Peroneal Atrophy; Neurospinal Muscular Atrophy; Hereditary Motor and Sensory Neuropathy Types 1 and 2)

664

(2)

Giant Axonal Disease (Giant Axonal Neuropathy)

666

(2)

Orthostatic Hypotension (Shy-Drager Syndrome; Progressive Autonomic Decline; Idiopathic Orthostatic Hypotension; Multisystem Atrophy with Orthostatic Hypotension)

668

(4)

Pure Autonomic Failure (Idiopathic Orthostatic Failure; Bradbury-Eggleston Syndrome)

672

(1)

Congenital Disorders of Intestinal Innervation

672

(1)

Hirschsprung's Disease (Long-Segment Aganglionosis; Typical Form of Congenital Megacolon)

673

(2)

Zonal and Ultrashort-Segment Aganglionosis

675

(1)

Total Intestinal Aganglionosis (Zulzer-Wilson Syndrome)

675

(1)

Neuronal Colon Dysplasia (Neuronal Intestinal Dysplasia Type A)

676

(1)

Neuronal Intestinal Dysplasia Type B (Hyperganglionosis)

677

(1)

Hypoganglionosis (Dysganglionosis)

678

(1)

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudoobstruction (Familial Visceral Neuropathy)

679

(1)

Achalasia of the Cardia

679

(1)

Familial Dysautonomia (Riley-Day Syndrome; Hereditary Sensory and Autonomic Neuropathy Type III and Dyck and Ohta)

680

(1)

Familial Dysautonomia in Animals

681

(6)

Fukuyama Syndrome (Congenital Muscular Dystrophy with Mental Retardation and Epilepsy)

683

(1)

Occidental Type of Cerebromuscular Dystrophy

684

(1)

Congenital Muscular Dystrophy with Cerebroocular Dysplasia (Muscle-Eye-Brain Syndrome)

684

(1)

Walker-Warburg Syndrome (Cerebroocular Dysplasia of the Walker Type; Hydrocephalus, Agyria, and Retinal Degeneration with or without Encephalocele)

685

(1)

Myotonic Muscular Dystrophy (Dystrophia Myotonica; Myotonia; Atrophica; Curschmann-Steinert Disease)

686

(1)

Miscellaneous

687

(1)

Polymicrogyria and Dermatomyositis with Paracrystalline Inclusions

687

(1)

Myopathies with Tremor and Dementia

687

(1)

Miscellaneous Conditions

Neurocutaneous and Oculocerebral Syndromes

688

(6)

Arthrogryposis Multiplex Congenita (Pena-Shokeir Syndrome Type I; Focal Sequelae of Akinesia; Multiple Ankyloses with Facial Anomalies and Pulmonary Hypoplasia)

688

(1)

Aicardi's Syndrome (Agenesis of the Corpus Callosum; Infantile Spasms and Ocular Anomalies)

689

(2)

Livedo Reticularis (Sneddon's Syndrome)

691

(1)

Multiple Neuroretinal Angiomatosis (Bonnet-Dechaume-Blanc Syndrome)

691

(3)

Congenital Cerebral Abnormalities with Skeletal Malformations

Osteopetrosis (Osteosclerosis; Albers-Schonberg Disease; Marble Bone Disease)

694

(1)

Galloway Syndrome

695

(1)

Seckel's Dwarfism (Bird-Headed Dwarfs; Nanocephalic Dwarfism)

696

(1)

Dwarfism with Short Legs and Microcephaly

696

(2)

Taybi-Linder Syndrome (Dwarfism; Skeletal Dysplasia and Cerebral Malformations)

697

(1)

Rubinstein-Taybi Syndrome (Dysmorphic Dwarfism)

697

(1)

Oculodentodigital Dysplasia

697

(1)

Epilepsy in Neurogenerative Disorders

General Pathogenetic Mechanisms

698

(9)

West Syndrome (Propulsive Petit Mal; Lightning Salaam Seizures; Infantile Spasms)

700

(1)

Juvenile Myoclonus Epilepsy (Janz Syndrome; Impulsive Petit Mal)

700

(2)

Heterotopias (``Double-Cortex'' Syndrome)

702

(1)

Lennox-Gastaut Syndrome (Myoclonic-Astatic Petit Mal; Akinetic Petit Mal)

703

(2)

Epilepsy with Dense Microsphere Accumulation

705

(1)

Friedmann's Syndrome (Pyknoleptic Absences)

705

(1)

Epilepsies with Psychomotor Seizures

705

(2)

References

707

(144)

Index

851

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Metabolic and Degenerative Diseases of the Central Nervous System

9780121652500

0121652505

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