A molecular basis for hereditary motor and sensory neuropathy disorders.
Charcot-Marie-Tooth disease (CMT), or inherited peripheral neuropathies, is one of the most frequent genetically inherited neurologic disorders, with a prevalence of approximately one in 2500 people. CMT is usually inherited in an autosomal dominant fashion, although X-linked and recessive forms of CMT also exist. Over the past several years, considerable progress has been made toward understanding the genetic causes of many of the most frequent forms of CMT, particularly those caused by mutations in Schwann cell genes inducing the demyelinating forms of CMT, also known as CMT1. Because the genetic cause of these disorders is known, it is now possible to study how mutations in genes encoding myelin proteins cause neuropathy. Identifying these mechanisms will be important both for understanding demyelination and for developing future treatments for CMT.
Shy
M E
ME
Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 421 East Canfield, Elliman Building 3206, Detroit, MI 48201, USA. mshy@cmb.biosci.wayne.edu
Balsamo
J
J
Lilien
J
J
Kamholz
J
J
D000595:Amino Acid Sequence; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
D009419:Nerve Tissue Proteins