日本的弗里德赖希共济失调：52例临床与遗传学分析
Friedreich's ataxia in Japan: clinical and genetic analyses in 52 cases.
作者信息
Kondo K, Hirota K
出版信息
Brain Dev. 1980;2(4):365-71. doi: 10.1016/s0387-7604(80)80049-0.
PMID:7224093
Abstract
Among 844 proband cases with various types of spinocerebellar degenerations reported to us by about 200 major neurological clinics in Japan, there were 26 males and 26 females with Friedreich's ataxia. Genetic analysis disclosed recessive transmission of these cases. Clinical patterns were almost identical with the cases observed in Europe and Canada.
摘要
在日本约200家主要神经科诊所向我们报告的844例各种类型脊髓小脑变性的先证者病例中，有26例男性和26例女性患有弗里德赖希共济失调。基因分析显示这些病例为隐性遗传。临床症状与在欧洲和加拿大观察到的病例几乎相同。
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