Wakisaka A, Sasaki H
Department of Pathology, Hokkaido University School of Medicine.
Nihon Rinsho. 1993 Sep;51(9):2467-73.
Hereditary spinocerebellar degeneration consist of a cluster of heterogenous disorders. Based on clinical features, neuropathological findings and inheritance mode, these disorders have been classified into several entities. In the Japanese, olivo-ponto-cerebellar atrophy (OPCA), Machado-Joseph disease (MJD) and dominant cortical cerebellar atrophy (CCA) are the most popular forms of ataxia. Recent linkage analyses have revealed the locations of these genes; OPCA maps either on 6p23 (SCA1) or on 12q23 (SCA2), and MJD on 14q. The chromosomal assignment of these genes has resulted in development of a new classification of ataxia and has opened a new era of ataxia research.
遗传性脊髓小脑变性由一系列异质性疾病组成。基于临床特征、神经病理学发现和遗传模式，这些疾病已被分为几个类型。在日本人中，橄榄体脑桥小脑萎缩（OPCA）、马查多-约瑟夫病（MJD）和显性皮质小脑萎缩（CCA）是最常见的共济失调形式。最近的连锁分析已经揭示了这些基因的位置；OPCA定位于6p23（SCA1）或12q23（SCA2），MJD定位于14q。这些基因的染色体定位导致了共济失调新分类的发展，并开启了共济失调研究的新时代。
