An Epidemiological Genetic Study of Charcot-Marie-Tooth Disease in Western Japan
2002; Karger Publishers; Volume: 21; Issue: 5 Linguagem: Inglês
10.1159/000065643
ISSN1423-0208
AutoresSaiko Kurihara, Yoshiki Adachi, Kenji Wada, Etsuko Awaki, Hideaki Harada, Kenji Nakashima,
Tópico(s)Hereditary Neurological Disorders
ResumoWe 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.
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