Chapter

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: http://dx.doi.org/10.1093/med/9780199204854.003.02417

Series: Oxford Textbooks

Inherited neurodegenerative diseases

Show Summary Details

Preview

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

Full text: subscription required

How to subscribe Recommend to my Librarian

Buy this work at Oxford University Press »

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.