A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis—Coincidental or Associated?

被引：0
|
作者：
Elif Everest
Bade Gulec
Ugur Uygunoglu
机构：
[1] Istanbul University-Cerrahpasa,Department of Neurology, Cerrahpasa Medical Faculty
[2] Istanbul University-Cerrahpasa,Neuroimmunology Division, Institute of Neurological Sciences, Cerrahpasa Medical Faculty
来源：
The Cerebellum | 2024年 / 23卷
关键词：
ATXN2; Spinocerebellar ataxia; SCA2; Multiple sclerosis;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
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页码：1235 / 1238
页数：3
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