Disease mechanisms in hereditary sensory and autonomic neuropathies

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Neurobiol Dis. 2005 Sep 21

Disease mechanisms in hereditary sensory and autonomic neuropathies.

Verpoorten N, De Jonghe P, Timmerman V.

Peripheral Neuropathy Group, Department of Molecular Genetics,

Flanders Interuniversity Institute for Biotechnology, Institute Born-

Bunge, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen,

Belgium.

Inherited peripheral neuropathies are common monogenically inherited

diseases of the peripheral nervous system. In the most common

variant, i.e., the hereditary motor and sensory neuropathies, both

motor and sensory nerves are affected. In contrast, sensory

abnormalities predominate or are exclusively present in hereditary

sensory and autonomic neuropathies (HSAN). HSAN are clinically and

genetically heterogeneous and are subdivided according to mode of

inheritance, age of onset and clinical evolution. In recent years, 6

disease-causing genes have been identified for autosomal dominant and

recessive HSAN. However, vesicular transport and axonal trafficking

seem important common pathways leading to degeneration of sensory and

autonomic neurons. This review discusses the HSAN-related genes and

their biological role in the disease mechanisms leading to HSAN.