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

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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.

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Fig. 1

(Copyright 2019. Reprinted with permission of Progeny Genetics LLC, Delray Beach, FL, www.progenygenetics.com)

Fig. 2

Data Availability

The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.

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Authors and Affiliations

  1. Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey

    Elif Everest, Bade Gulec & Ugur Uygunoglu

  2. Neuroimmunology Division, Institute of Neurological Sciences, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey

    Ugur Uygunoglu

Authors
  1. Elif Everest
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  2. Bade Gulec
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  3. Ugur Uygunoglu
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Contributions

Conceptualization: UU, writing — original draft preparation: EE and BG; writing — review and editing: EE, BG, and UU; preparation of the figures: EE and BG; supervision: UU. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Ugur Uygunoglu.

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Ethical Approval

The need for institutional ethics approval was waived for this case report. The study was performed in accordance with the 1964 Helsinki Declaration and its later amendments.

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The patient signed a written informed consent for the publication of this case report.

Competing Interests

The authors declare no competing interests.

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Everest, E., Gulec, B. & Uygunoglu, U. A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis—Coincidental or Associated?. Cerebellum 23, 1235–1238 (2024). https://doi.org/10.1007/s12311-023-01605-6

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  • DOI: https://doi.org/10.1007/s12311-023-01605-6

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