CMT 4/CMT 1 axonal recessive mutation Met116Thr in the GDAP1 gene

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J Neurol Sci. 2005 Dec 9;

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with

the axonal recessive Charcot-Marie-Tooth type 4 disease.

Kabzinska D, Kochanski A, Drac H, Rowinska-Marcinska K, Ryniewicz B,

Pedrola L, Palau F, Hausmanowa-Petrusewicz I.

Neuromuscular Unit, Mossakowski Medical Research Centre, Polish

Academy of Sciences, Pawinskiego 5, 02-106 Warsaw, Poland.

Mutations in the gene coding for ganglioside-induced differentiation-

associated protein-1 (GDAP1), which maps to chromosome 8q21, have

been described in families with autosomal recessive Charcot-Marie-

Tooth disease (CMT4A). Interestingly, some mutations in the GDAP1

gene have been reported in the demyelinating form of CMT1 disease,

whereas others were found in patients with the axonal type of CMT

disease. So far, 23 mutations in the GDAP1 gene have been reported in

patients of different ethnic origins. In this study we report a novel

mutation Met116Thr in the GDAP1 gene identified in a three generation

Polish family with axonal CMT4.