An epidemiological genetic study of Charcot-Marie-Tooth disease in Western 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.
Department of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan. saiko@grape.med.tottori-u.ac.jp
Saiko
S
Kurihara
Yoshiki
Y
Adachi
Kenji
K
Wada
Etsuko
E
Awaki
Hideaki
H
Harada
Kenji
K
Nakashima
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000453:epidemiology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D016021:Epidemiologic Studies; D005260:Female; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D015995:Prevalence