Genetics and Neurology - 1st Edition - ISBN: 9780443028182, 9781483281018

Genetics and Neurology

1st Edition

Authors: Sarah Bundey
Editors: Alan E. H. Emery
eBook ISBN: 9781483281018
Imprint: Elsevier
Published Date: 1st January 1985
Page Count: 354
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Description

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

Microephaly

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

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 Children

4. Extrapyramidal Disorders and Dyskinesias

Parkinsonism

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

Porphyrias

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

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 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

Index


Details

No. of pages:
354
Language:
English
Copyright:
© Elsevier 1985
Published:
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