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Inherited neurodegenerative diseases 

Inherited neurodegenerative diseases
Chapter:
Inherited neurodegenerative diseases
Author(s):

Swati Sathe

DOI:
10.1093/med/9780198746690.003.0606
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date: 07 March 2021

Many disorders of the nervous system, especially the degenerative conditions, have a genetic basis, which is usually due to a mutated gene resulting in decreased production of a critical structural or regulatory protein. Inherited 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. This chapter reviews and provides a guideline for inherited neurodegenerative disease. It is organized in a manner that a good neurological examination would be organized (i.e. systemic disorders followed by neurological disorders), discussed in a top-down manner (i.e. from cortex to muscle). Discussion of individual disorders starts with the molecular genetics, followed by molecular pathology, histology, clinical features, investigational findings, and management.

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