Kumagai Y, Sugiura Y, Shimoji S, Kumagai T, Tochikubo S, Yamamoto T
Department of Neurology, Fukushima Medical University School of Medicine, Japan.
Tohoku J Exp Med. 2001 Oct;195(2):85-91. doi: 10.1620/tjem.195.85.
The prevalence of each type of hereditary spinocerebellar ataxias (SCAs) was genetically determined in Fukushima Prefecture, and the results were compared to those in other areas of Japan. The genetic analyses were done in 29 patients with dominant SCA and 5 patients with SCA with negative family history. Machado-Joseph disease was identified in 41.3% of the cases, SCA6 17.2%, dentatorubral-pallidoluysian atrophy (DRPLA) 6.9% and unknown 34.5%. The incidence is clearly different from those of Miyagi and Yamagata Prefectures as SCA1 has not been identified in our region, and is in fact similar to that of Hokuriku or Kanto Provinces. An apparent difference in the incidence of each SCA may be attributed to the historical and geographic regional difference in the distribution of inhabitants and also to the small size of the SCA population we have so far investigated. In addition, 2 of the 3 genetically identified DRPLA in this study were not clinically diagnosed, and one of them was thought to be sporadic. Late onset DRPLA may thus be misdiagnosed to other disease categories, when dementia was not apparent at the time of onset.
在福岛县通过基因检测确定了各类遗传性脊髓小脑共济失调（SCA）的患病率，并将结果与日本其他地区进行了比较。对29例显性SCA患者和5例家族史阴性的SCA患者进行了基因分析。结果显示，马查多-约瑟夫病（Machado-Joseph disease）占41.3%，SCA6占17.2%，齿状核红核苍白球路易体萎缩症（dentatorubral-pallidoluysian atrophy，DRPLA）占6.9%，不明类型占34.5%。该发病率与宫城县和山形县明显不同，因为在我们地区未发现SCA1，实际上与北陆或关东地区相似。各型SCA发病率的明显差异可能归因于居民分布的历史和地理区域差异，以及我们目前所研究的SCA患者群体规模较小。此外，本研究中通过基因鉴定的3例DRPLA中有2例未得到临床诊断，其中1例被认为是散发性的。因此，当发病时痴呆症状不明显时，迟发性DRPLA可能会被误诊为其他疾病类型。
