Early Onset CMT caused by a homozygous Leu239Phe mutation in the GDAP1 gene

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Early onset Charcot-Marie-Tooth disease caused by a homozygous

caused by a homozygous Leu239Phe mutation in the GDAP1 gene.

Kabzinska D, Drac H, Rowinska-Marcinska K, Fidzianska A, Kochanskii

A, Hausmanowa-Petrusewicz I.

Neuromuscular Unit, Mossakowski Medical Research Centre, Polish

Academy of Sciences, Warsaw, Poland.

Mutations in the ganglioside -induced differentiation-associated

protein 1 (GDAP1) gene are common a cause of the Charcot-Marie-Tooth

(CMT4A) disease with autosomal recessive mode of inheritance. To

date more than twenty mutations in the GDAP1 gene have been reported

in patients suffering from the demyelinating, axonal or mixed form

of Charcot-Marie-Tooth disease. Only in a few CMT4A affected

patients sural nerve biopsy findings have been provided. We report a

homozygous Leu239Phe mutation in the GDAP1 gene in a 39-year-old

female with a severe form of mixed axonal and demyelinating Charcot-

Marie-Tooth disease.