Rinsho Shinkeigaku (Clinical Neurology)

Original Article

Gene diagnosis of patients with chorea

Takayoshi Shimohata, M.D.1), Osamu Onodera, M.D.2), Yoshiaki Honma, M.D.3), Koichi Hirota, M.D.4), Yasuhito Nunomura, M.D.5), Tetsuya Kimura, M.D.1), Izumi Kawachi, M.D.1), Kazuhiro Sanpei, M.D.6), Masatoyo Nishizawa, M.D.1) and Shoji Tsuji, M.D.7)

1)Department of Neurology, Brain Research Institute, Niigata University
2)Resource Branch for Brain Disease Research, Center for Bioresource-Based Researches, Brain Research Institute, Niigata University
3)Long-term Care Insurance Facilities "Sado"
4)Akita Red Cross Blood Center
5)Department of Neurology, Kuroishi City Hospital
6)Department of Neurology, Sado General Hospital
7)Department of Neurology, University of Tokyo, Graduate School of Medicine

To elucidate the etiology of chorea, we performed gene diagnoses of 79 consecutive cases of the disease (34 males, 45 females; age 15-79 years), which include 39 familial cases (37 pedigrees) and 40 sporadic cases, from 1997 to 2002, after their informed consent was obtained. We extracted genomic DNA from peripheral white blood cells, and performed genetic tests for Huntington disease (HD), dentatorubral pallidoluysian atrophy (DRPLA), Huntington disease like 1 (HDL1), HDL2 and spinocerebellar ataxia type 17 (SCA17). We found 37 cases (36 pedigrees) of HD, seven cases (seven pedigrees) of DRPLA. No cases of HDL1, HDL2 and SCA17 were found. We also found three cases (two pedigrees) presenting an autosomal dominant trait with an unknown origin, and two cases whose parents were consanguineously related. Therefore, further genetic heterogeneity is expected in the cases of chorea in Japan.

(CLINICA NEUROL, 44: 149－153, 2004)
key words: chorea, gene diagnosis, Huntington disease, Huntington disease-like disorder, SCA17

(Received: 2-Aug-03)