Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan.
Neurobiol Aging. 2012 Feb;33(2):426.e23-4. doi: 10.1016/j.neurobiolaging.2010.10.012. Epub 2010 Dec 15.
Spinocerebellar ataxia (SCA) is a clinically, pathologically, and genetically heterogeneous group of dominantly inherited neurodegenerative disorders. SCA31 has recently been reported to be associated with a complex penta-nucleotide (TGGAA)n repeat insertion in the introns of TK2 and BEAN. In this study we excluded SCA31 mutation from 119 unrelated patients with molecularly unassigned hereditary cerebellar ataxia, out of 512 pedigrees, after mutations in SCA1, 2, 3, 6, 7, 8, 10, 12, 17, and dentatorubral-pallidoluysian atrophy (DRPLA) had been excluded. Our data indicate that SCA31 is absent or rare in the Chinese population on Taiwan.
脊髓小脑共济失调(SCA)是一组临床、病理和遗传异质性的显性遗传性神经退行性疾病。最近有报道称,SCA31 与 TK2 和 BEAN 内含子中的五核苷酸(TGGAA)n 重复插入有关。在这项研究中,我们排除了 SCA31 突变,在 512 个家系中,有 119 个分子上未分配的遗传性小脑共济失调患者没有 SCA31 突变,这些患者已经排除了 SCA1、2、3、6、7、8、10、12、17 和齿状核红核苍白球路易体萎缩症(DRPLA)的突变。我们的数据表明,SCA31 在台湾的中国人群中不存在或很少见。