Nikali K, Koskinen T, Suomalainen A, Pihko H, Peltonen L
Laboratory of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Pediatr Res. 1994 Nov;36(5):607-12. doi: 10.1203/00006450-199411000-00012.
Hereditary ataxias are a heterogeneous group of progressive neurodegenerative disorders characterized by symptoms and signs originating mainly in the CNS. A new representative of this disease group is infantile onset spinocerebellar ataxia, an autosomal recessively inherited syndrome so far reported only in the genetically isolated Finnish population. The etiology of hereditary ataxias still remains unknown, but the gene loci behind many of them have been mapped to different chromosomal regions. We have carried out linkage analyses with markers on the regions of the previously identified ataxia loci to determine whether the infantile onset spinocerebellar ataxia syndrome represents the same allelic disease as any of the previously identified hereditary ataxias. Here we report that the infantile onset spinocerebellar ataxias syndrome does not segregate with any of the markers closely linked to the other hereditary ataxias. Consequently, it represents a genetically distinct disease, the gene locus of which still has to be identified.
遗传性共济失调是一组异质性进行性神经退行性疾病，其特征是症状和体征主要起源于中枢神经系统。该疾病组的一个新代表是婴儿期起病的脊髓小脑共济失调，这是一种常染色体隐性遗传综合征，迄今为止仅在遗传隔离的芬兰人群中报道过。遗传性共济失调的病因仍然不明，但其中许多疾病背后的基因座已被定位到不同的染色体区域。我们使用先前确定的共济失调基因座区域的标记进行了连锁分析，以确定婴儿期起病的脊髓小脑共济失调综合征是否与任何先前确定的遗传性共济失调代表相同的等位基因疾病。在此我们报告，婴儿期起病的脊髓小脑共济失调综合征与任何与其他遗传性共济失调紧密连锁的标记均无连锁关系。因此，它代表一种基因上独特的疾病，其基因座仍有待确定。
