Abstract：
Spinocerebellar ataxia type 2 (SCA2) is a dominantly inherited ataxia primarily characterised by progressive cerebellar syndrome, which is developed due to the expansion of the CAG trinucleotide repeat within the first exon of the ATXN2 gene. We report a rare case of a 41-year-old woman with coexistent genetically verified SCA2 and primary progressive multiple sclerosis (MS). Considering our case and a few others reported in the literature, as well as a possible genetic association between ATXN2 and MS susceptibility, we suggest that the coexistence of SCA and MS may not be coincidental, especially in patients with a progressive MS course.
摘要：
脊髓小脑性共济失调2型（SCA2）是一种主要以进行性小脑综合征为特征的遗传性共济失调，这是由于ATXN2基因的第一个外显子内的CAG三核苷酸重复的扩展而开发的。我们报告了一例罕见的41岁女性，其遗传证实的SCA2和原发性进行性多发性硬化症（MS）共存。考虑到我们的案例和文献中报道的其他一些案例，以及ATXN2和MS易感性之间可能的遗传关联，我们认为SCA和MS的共存可能不是巧合，尤其是在进展性MS病程的患者中。
