Late onset axonal CMT phenotype caused by a novel myelin protein zero mutation

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J Neurol Neurosurg Psychiatry. 2006 Apr;77(4):534-7.

Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel

myelin protein zero mutation.

Bienfait HM, Faber CG, Baas F, Gabreels-Festen AA, Koelman JH,

Hoogendijk JE, Verschuuren JJ, Wokke JH, de Visser M.

Department of Neurology H2-222, Academic Medical Centre, PO Box

22660, 1100 DD Amsterdam, Netherlands.

A late onset axonal Charcot-Marie-Tooth phenotype is described,

resulting from a novel mutation in the myelin protein zero (MPZ)

gene. Comparative computer modelling of the three dimensional

structure of the MPZ protein predicts that this mutation does not

cause a significant structural change. The primary axonal disease

process in these patients points to a function of MPZ in maintenance

of the myelinated axons, apart from securing stability of the myelin

layer.