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

Everest E., Gulec B., UYGUNOĞLU U.

Cerebellum (London, England), vol.23, no.3, pp.1235-1238, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 3
  • Publication Date: 2024
  • Doi Number: 10.1007/s12311-023-01605-6
  • Journal Name: Cerebellum (London, England)
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE, Psycinfo
  • Page Numbers: pp.1235-1238
  • Keywords: ATXN2, Multiple sclerosis, SCA2, Spinocerebellar ataxia
  • Istanbul University-Cerrahpasa Affiliated: No

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.