Peripheral neuropathies are among the most common inherited neurologic diseases. Neuropathy may be a key -aspect of an inherited disease, or may be overshadowed by the other manifestations of a syndrome. Inherited demyelinating neuropathies are usually caused by mutations in genes expressed by myelinating Schwann cells. Inherited axonal neuropathies are mainly caused by mutations in genes expressed by neurons, with some important exceptions, such as the genes that cause familial amyloidotic neuropathies. More than 70 different causes of nonsyndromic and 120 causes of syndromic inherited neuropathy have been described.
|Original language||English (US)|
|Title of host publication||Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease|
|Subtitle of host publication||Fifth Edition|
|Number of pages||24|
|State||Published - Nov 13 2014|
- GJB1 MFN2
ASJC Scopus subject areas