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

Elif Everest; Bade Gulec; Ugur Uygunoglu

doi:10.1007/s12311-023-01605-6

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

Cerebellum. 2023 Sep 16. doi: 10.1007/s12311-023-01605-6. Online ahead of print.

Authors

Elif Everest¹, Bade Gulec¹, Ugur Uygunoglu^{2

3}

Affiliations

¹ Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
² Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey. uguruygunoglu@gmail.com.
³ Neuroimmunology Division, Institute of Neurological Sciences, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey. uguruygunoglu@gmail.com.

PMID: 37715888
DOI: 10.1007/s12311-023-01605-6

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.

Keywords: ATXN2; Multiple sclerosis; SCA2; Spinocerebellar ataxia.