Genetics and Neurology

Genetics and Neurology

1st Edition - January 1, 1985

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  • Author: Sarah Bundey
  • eBook ISBN: 9781483281018

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Genetics and Neurology focuses on disorders that affect the nervous system, including atrophies, neuropathies, and tumors. The book first examines malformations of the central nervous system, phacomatoses and tumors, and cerebral degenerative disorders of childhood. Topics include malformations of the corpus callosum and neighboring structures; abnormalities of closure of neural tube; spongiform leucodystrophy; and tumors of the nervous system. The text then takes a look at extrapyramidal disorders and dyskinesias and muscle disorders. The publication elaborates on spinal muscular atrophies (SMAs), cerebellar and spinocerebellar ataxias, and hereditary neuropathies. Discussions focus on hereditary motor and sensory neuropathies of infancy and early childhood; peripheral neuropathies and lipid disorders; and congenital cerebellar ataxias. The book also discusses spastic paraplegias and multifactorial inheritance and neurological diseases. The text is a valuable reference for readers interested in genetics and neurology.

Table of Contents

  • 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


    Abnormalities of Gyri Formation

    2. 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 System

    3. 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


    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 Children

    4. Extrapyramidal Disorders and Dyskinesias


    Tremor and Tics

    Disorders Displaying Dystonia or Athetosis

    Huntington's Chorea

    Other Disorders with Chorea

    Myoclonic Disorders

    5 . 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 Metabolism

    6. 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


    Amyloid Neuropathy

    9. Cerebellar and Spinocerebellar Ataxias

    Congenital Cerebellar Ataxias

    Childhood-Onset Ataxias

    Adult-Onset Ataxias

    10. 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 association

    13. Dementia, Epilepsy and Miscellaneous Disorders

    Presenile Dementia

    Senile Dementia

    Other Genetic Causes of Dementia

    Vascular Disorders

    Disorders Showing Intracerebral Calcification


    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 Malformations

    Appendix 1

    Frequency of Consanguineous Matings among Parents of Patients with Autosomal Recessive Disease

    Appendix 2

    Calculation of Risks Based on Pedigree for being a Carrier for an X-Linked Disorder

    Appendix 3

    Neurological Disorders That are Inherited in an X-Linked Fashion


Product details

  • No. of pages: 354
  • Language: English
  • Copyright: © Elsevier 1985
  • Published: January 1, 1985
  • Imprint: Elsevier
  • eBook ISBN: 9781483281018

About the Author

Sarah Bundey

Affiliations and Expertise

Senior Lecturer in Clinical Genetics, University of Birmingham, Clinical Genetics Unit, Birmingham Maternity Hospital, Birmingham, UK

About the Editor

Alan E. H. Emery

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