Western Japan CMT Research

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1: Neuroepidemiology 2002 Sep-Oct;21(5):246-50

An epidemiological genetic study of charcot-marie-tooth disease in

Western Japan.

Kurihara S, Adachi Y, Wada K, Awaki E, Harada H, Nakashima K.

Department of Neurology, Institute of Neurological Sciences, Faculty of

Medicine, Tottori University, Yonago, Japan.

We identify the prevalence and genetic features of Charcot-Marie-Tooth

disease (CMT) in Yonago and Sakaiminato, western Japan. From information

in registered records and questionnaires, definite or candidate CMT

patients were examined. Eleven families with 19 patients (7 female and

12 male) were identified and the prevalence was 10.8 per

100,000 in April 2000. Eleven patients in 6 families showed a Thr124Met

mutation of the MPZ gene, in 2 families duplication of the PMP22 gene

was suggested and no abnormalities were found in 2 families. To identify

the occurrence of mildly affected CMT, the exhaustive region-matched and

family study was necessary.