Axonal and demyelinating mutations - Research from Japan

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Abstract from Acta Neurol Scand. 2003 Sep;108(3):157-60.

Axonal and demyelinating forms of the MPZ Thr124Met mutation.

Kurihara S, Adachi Y, Wada K, Adachi A, Ohama E, Nakashima K.

Departments of Neurology and Neuropathology, Institute of Neurological

Sciences, Faculty of Medicine, Tottori University, Tottori, Japan.

OBJECTIVE : We report on a Japanese family with Charcot Marie Tooth

disease (CMT) with the Thr124Met mutation in the peripheral myelin

protein zero (MPZ) gene.

MATERIAL AND METHODS : Based on the clinical study, we investigated MPZ

gene by direct sequence analysis and polymerase chain reaction

restriction fragment length polymorphism analysis.

RESULTS : Genotyping of four symptomatic family members showed that one

family member with severe disease symptoms was homozygous, while the

other three were heterozygous. The heterozygous cases were

clinicopathologically determined to be the axonal type, which is

characterized by late-onset and slow progression associated with Adie's

pupil and deafness. The homozygous case was the demyelinating type,

which showed earlier onset, rapid progression, sural nerve

demyelination, and cranial nerve demyelination at autopsy.

CONCLUSIONS : We suggest that axonal and demyelinating forms of CMT are

not two distinct classes, but rather parts of a spectrum of

genotypically related conditions, particularly with some MPZ mutations.