Genetics and Neurology
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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
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
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