Inherited neurodegenerative diseases

Edwin H. Kolodny and Swati Sathe

in Oxford Textbook of Medicine

Published on behalf of Oxford University Press

Published in print May 2010 | ISBN: 9780199204854
Published online November 2012 | e-ISBN: 9780199570973 | DOI:

Series: Oxford Textbooks

Inherited neurodegenerative diseases

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Case History—A 54 yr old man presenting with intermittent focal neurological signs.

Many nervous system disorders have a genetic basis, but may be difficult to diagnose because of nonspecific signs, slow progression, and lack of any family history.

Neurodegenerative disorders present an enormous challenge because of the complexity of the nervous system, the broad clinical and genetic heterogeneity characteristic of these diseases, and the progressive and generally irreversible nature of their neuropathology. A mutated gene is generally at fault, resulting in decreased production of a structural or regulatory protein important for the development or normal functioning of a special part of the nervous system....

Chapter.  33495 words. 

Subjects: Neurology

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