Phakomatoses and Other Neurocutaneous Syndromes
Phakomatoses and Other Neurocutaneous Syndromes Sharon E. Plon NEUROFIBROMATOSIS Neurofibromatosis (NF) is the term used for a set of distinct disorders that share some clinical characteristics, with NF types 1…
Diseases with Astrocyte Abnormalities
Diseases with Astrocyte Abnormalities Marvin A. Fishman ALEXANDER DISEASE Alexander disease is a degenerative disorder of the nervous system caused by a mutation in the gene encoding glial fibrillary acidic…
Basal Ganglia and Neurotransmitter Disorders
Basal Ganglia and Neurotransmitter Disorders Joseph Jankovic Biochemical or structural pathology in the basal ganglia may be manifested by movement disorders, groups of neurologic diseases, or syndromes that are characterized…
Rett Syndrome
Rett Syndrome Alan K. Percy Rett syndrome is a pervasive developmental disorder affecting predominantly females. After a period of apparently normal development, affected children experience a plateau in development and…
Leukodystrophies
Leukodystrophies Alan K. Percy The leukodystrophies are a group of progressive inherited neurodegenerative disorders affecting myelin formation in the central and (in some instances) peripheral nervous systems. As such, they…
Metabolic Encephalopathies
Metabolic Encephalopathies Edward R. B. McCabe Many of the metabolic disorders include among their clinical features abnormalities of the central nervous system (CNS). A significant portion of these disorders can…
Slow Virus Infections and Transmissible Spongiform Encephalopathies of the Central Nervous System
Slow Virus Infections and Transmissible Spongiform Encephalopathies of the Central Nervous System William J. Britt Transmissible central nervous system (CNS) diseases with unusually long incubation periods and prolonged clinical syndromes…
Hereditary and Acquired Types of Myopathy
Hereditary and Acquired Types of Myopathy Darryl C. De Vivo Salvatore DiMauro Molecular genetics has revolutionized our current understanding of neuromuscular diseases. The inherited conditions embrace all patterns of heredity,…
Diseases of the Neuromuscular Junction
Diseases of the Neuromuscular Junction Julie Thorne Parke Numerous conditions may interfere with the transmission of the electrical impulse across the neuromuscular junctions, which consist of the terminal portion of…
