Genetics and Neurology

1. Malformations of the Central Nervous System Abnormalities of Closure of Neural Tube Abnormalities of Cleavage Malformations of the Corpus Callosum and Neighboring Structures Malformations of Structures in Posterior Fossa Megalencephaly or Macrocephaly Microephaly Abnormalities of Gyri Formation2. Phacomatoses and Tumors Multiple Neurofibromatosis Tuberous Sclerosis (Bournville Disease; Epiloia) Von Hippel-Lindau Disease Incontinentia Pigmenti (Bloch-Sulzberger Syndrome) Basal Cell Naevus Syndrome Linear Sebaceous Naevus with Convulsions and Mental Retardation Encephalofacial Angiomatosis (Sturge-Weber Syndrome) Leptomeningeal Angiomatosis Tumors of the Nervous System3. Cerebral Degenerative Disorders of Childhood Neuronal Storage Diseases Batten's Disease Niemann-Pick Disease and Related Disorders Gaucher's Disease Progressive Myoclonic Epilepsy (PME) and Lafora Body Disease Leucodystrophies Metachromatic Leucodystrophy (MLD) or Sulphatide Lipidosis Krabbe's Globoid Body Leucodystrophy Adrenal Leucodystrophy (ALD) (Addison-Schilder's Disease) Spongiform Leucodystrophy (Spongy Degeneration of the Brain: Canavan's Disease) Alexander's Leucodystrophy Other Cerebral Degenerative Disorders of Children4. Extrapyramidal Disorders and Dyskinesias Parkinsonism Tremor and Tics Disorders Displaying Dystonia or Athetosis Huntington's Chorea Other Disorders with Chorea Myoclonic Disorders5 . Muscle Disorders I Congenital Muscular Dystrophies X-Linked Pseudohypertrophic Muscular Dystrophies Facioscapulohumeral Muscular Dystrophy Scapulo-Peroneal Syndrome Limb-Girdle Muscular Dystrophies Distal Myopathy Ocular Myopathies (Progressive External Ophthalmoplegia) Myopathies with Structural Abnormalities Disorders of Lipid Metabolism6. Muscle Disorders II Myotonic Dystrophy (Dystrophia Myotonica, Steinert's Muscular Dystrophy) Other Myotonic Disorders Glyogen Storage Diseases The Periodic Paralyses Malignant Hyperthermia (MH)7. Spinal Muscular Atrophies (Smas) Acute Infantile Spinal Muscular Atrophy (Acute SMA, Type I SMA) Chronic SMA of Infancy and Early Childhood (Type II SMA) Chronic Spinal Muscular Atrophy of Childhood with Onset at or after the Age of Three Years (Kugelberg-Welander Disease: Type III SMA) Other Forms of Childhood-Onset SMA Spinal Muscular Atrophy with Distinctive Features Arthrogryposis Multiplex Congenita (AMC)8. Hereditary Neuropathies Hereditary Motor and Sensory Neuropathy Type I (HMSN I) Hereditary Motor and Sensory Neuropathy Type II (HMSN II) Hereditary Motor and Sensory Neuropathies of Infancy and Early Childhood Other Hereditary Motor and Sensory Neuropathies Hereditary Sensory Neuropathies Other Types of Neuropathies That are Primarily Sensory Peripheral Neuropathies and Lipid Disorders Porphyrias Amyloid Neuropathy9. Cerebellar and Spinocerebellar Ataxias Congenital Cerebellar Ataxias Childhood-Onset Ataxias Adult-Onset Ataxias10. Spastic Paraplegias 'Pure' Spastic Paraplegia Spastic Paraplegias with associated Features Genetic Syndromes Resembling Cerebral Palsy Motor Neurone Disease (MND)11. Neurological Diseases in Which There are Defects in DNA Repair of Synthesis Xeroderma Pigmentosum (XP) Cockayne's Syndrome Ataxia-Telangiectasia (A-T)12. Multifactorial Inheritance and Neurological Diseases Multiple Sclerosis (MS) Myasthenia Gravis Acquired Myasthenia Gravis Other Disorders with An HLA association13. Dementia, Epilepsy and Miscellaneous Disorders Presenile Dementia Senile Dementia Other Genetic Causes of Dementia Vascular Disorders Disorders Showing Intracerebral Calcification Epilepsy Risks of Recurrence of Epilepsy in Sibs of Epileptic Children Risks for Epilepsy in offspring of Epileptic Patients Anti-Convulsant Therapy during Pregnancy and Congenital MalformationsAppendix 1 Frequency of Consanguineous Matings among Parents of Patients with Autosomal Recessive DiseaseAppendix 2 Calculation of Risks Based on Pedigree for being a Carrier for an X-Linked DisorderAppendix 3 Neurological Disorders That are Inherited in an X-Linked FashionIndex