Molecular genetics of inherited peripheral neuropathies: who are the actors?
Charcot-Marie-Tooth disease, the most common variant of the inherited peripheral neuropathies, has a prevalence of 1/2500. Clinical, electrophysiological, neuropathological and molecular genetic studies have demonstrated extensive heterogeneity. Currently, 30 genetic loci are known for distinct CMT types and related inherited peripheral neuropathies, while many other types have been excluded for linkage to these loci. Recent molecular genetic studies have demonstrated the involvement of 8 genes that encode proteins with very diverse functions. These include a structural protein confined to the compact myelin, a cytoskeletal protein, an adhesion molecule, a gap-junction protein, a transcription factor, a receptor for a neurotrophic factor, a phosphatase and a protein involved in signal transduction and cell cycle regulation.
Meuleman
J
J
Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA), Belgium.
Timmerman
V
V
Nelis
E
E
De Jonghe
P
P
D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D008040:Genetic Linkage; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics; D006801:Humans; D008967:Molecular Biology / Q000379:methods; D009154:Mutation / Q000235:genetics*; D018993:Myelin P0 Protein / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000235:genetics; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D000097002:Gap Junction beta-1 Protein; C073687:PMP22 protein, human