Sasaki H, Yabe I, Tashiro K
Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Cytogenet Genome Res. 2003;100(1-4):198-205. doi: 10.1159/000072855.
In Japan, multiple system atrophy (MSA) accounts for 40% of all spinocerebellar ataxias (SCAs) and hereditary disorders account for 30%. Among the latter, autosomal dominant disorders are common and recessive ataxias are rare. Although the frequency of SCA genotypes differs between geographic regions throughout Japan, SCA6, SCA3/MJD, and DRPLA are the three major disorders, while SCA7, SCA8, SCA10, SCA12, and SCA17 are infrequent or almost undetected. SCA1 predominantly occurs in the northern part of Japan. Overall, 20-40% of dominant SCAs are due to unknown mutations. From this cluster, pure cerebellar ataxias linked with the SCA4, SCA14, and SCA16 locus have been isolated. Among the recessive SCAs, patients with AVED and EAOH have been detected. However, FRDA associated with GAA repeat expansion in the frataxin gene has not been reported so far.
在日本，多系统萎缩（MSA）占所有脊髓小脑共济失调（SCA）的40%，遗传性疾病占30%。在后者中，常染色体显性疾病常见，隐性共济失调罕见。尽管日本各地不同地理区域的SCA基因型频率有所不同，但SCA6、SCA3/MJD和齿状核红核苍白球路易体萎缩症（DRPLA）是三种主要疾病，而SCA7、SCA8、SCA10、SCA12和SCA17则不常见或几乎未被发现。SCA1主要发生在日本北部。总体而言，20%-40%的显性SCA是由未知突变引起的。从这个群体中，已分离出与SCA4、SCA14和SCA16位点相关的纯小脑共济失调。在隐性SCA中，已检测到伴有维生素E缺乏的共济失调（AVED）和早发性共济失调伴高氨血症（EAOH）患者。然而，迄今为止尚未报告与弗里德赖希共济失调（FRDA）相关的、由frataxin基因中GAA重复序列扩增引起的病例。
