Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C
Department of Neurology, University Hospital, Duesseldorf, Germany.
Nat Genet. 1993 Jul;4(3):295-9. doi: 10.1038/ng0793-295.
The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders characterized by onset with gait ataxia, dysarthria, dysmetria and dysdiadochokinesia. We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. We now report the assignment of a second locus for ADCA (SCA2) to chromosome 12q23-24.1 following linkage analyses carried out for the Cuban pedigrees, with probable flanking markers D12S58 and phospholipase A2. Investigation of linkage to the interval containing SCA2 for seven French ADCA families, previously excluded from linkage to SCA1, provides preliminary data suggesting the existence of a third ADCA locus (SCA3).
常染色体显性遗传性小脑共济失调（ADCA）是一组神经退行性疾病，其特征为起病时出现步态共济失调、构音障碍、辨距不良和轮替运动障碍。我们先前已通过在古巴一个大型奠基者群体中排除位于6号染色体短臂（6p）上已记录的脊髓小脑共济失调位点（SCA1）中的疾病位点，证明了这些疾病存在遗传异质性。我们现在报告，在对古巴家系进行连锁分析后，将第二个ADCA位点（SCA2）定位于12号染色体长臂2区3带至24区1带（12q23 - 24.1），可能的侧翼标记为D12S58和磷脂酶A2。对七个先前已排除与SCA1连锁的法国ADCA家系进行与包含SCA2的区间的连锁研究，提供了初步数据，提示存在第三个ADCA位点（SCA3）。
