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Inherited neurodegenerative diseases 

Inherited neurodegenerative diseases
Inherited neurodegenerative diseases

Edwin H. Kolodny

and Swati Sathe



Neurofibromatosis 1 and 2—expanded discussion.

Von Hippel-Lindau disease—revised recommendations for screening of affected or at risk individuals.

Frontotemporal dementia—new information on genetic causes; description of inclusion body myopathy associated with Paget disease of bone and/or frontotemporal dementia (IBMPFD).

Infantile seizures—genetic causes for some cases of febrile seizure; discussion of severe myoclonic epilepsy of infancy.

Other conditions—enhanced discussions of hereditary diffuse leucoencephalopathy with spheroids and pigmentary orthochomatic leucodystrophy, autosomal dominant spinocerebellar ataxias.

A relevant case history from Neurological Case Histories: Case Histories in Acute Neurology and the Neurology of General Medicine has been added to this chapter.

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date: 15 October 2021

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....

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