J Genet Med.  2007 Dec;4(2):115-121.

DNA diagnostic testing in hereditary motor and sensory neuropathies

Affiliations
  • 1Department of Neurology, School of Medicine, Ewha Womans University, Seoul, Korea. bochoi@ewha.ac.kr

Abstract

Hereditary motor and sensory neuropathy (HMSN; Charcot-Marie-Tooth disease, CMT) was first described by Charcot and Marie in France and, independently, by Tooth in England in 1886. HMSN is the most common form of inherited motor and sensory neuropathy, and is a genetically heterogeneous disorder of the peripheral nervous system. Using positional cloning methods, the chromosomal localization (locus) of more than 40 inherited peripheral neuropathies was found in the last 15 years. However, these genetic analyses also show that many entities do not show linkage to the known loci. This issue deals with a clinical survey of inherited peripheral neuropathies regarding diagnostic approaches based on the molecular findings.

Keyword

HMSN; Charcot-Marie-Tooth disease; Gene; Diagnosis
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