Coexistence of multiple sclerosis and spinocerebellar ataxia type-8

Mult Scler. 2023 Aug;29(9):1195-1198. doi: 10.1177/13524585231180549. Epub 2023 Jul 3.

Abstract

Cerebellar dysfunction is likely to cause severe and treatment-resistant disability in multiple sclerosis (MS). Certain spinocerebellar ataxia (SCA)-related alleles can increase MS susceptibility, and channel polymorphisms can impact disability measures. Following an index patient with the coexistence of MS and SCA Type-8 (SCA8) in the MS clinic, an institutional engine search for MS and hereditary ataxia coexistence was conducted but did not reveal any other cases. This extremely rare coexistence of MS and SCA8 in our index patient may be incidental; however, a yet-to-be-identified contribution of coexistent hereditary ataxia(s) to the susceptibility of a prominent progressive ataxia MS phenotype cannot be ruled out.

Keywords: Multiple sclerosis; SCA8; hereditary ataxia; spinocerebellar ataxia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Ataxia / genetics
  • Ataxia / pathology
  • Brain / pathology
  • Humans
  • Male
  • Multiple Sclerosis* / complications
  • Multiple Sclerosis* / diagnosis
  • Multiple Sclerosis* / genetics
  • Multiple Sclerosis* / pathology
  • Spinal Cord
  • Spinocerebellar Degenerations* / complications
  • Spinocerebellar Degenerations* / diagnosis
  • Spinocerebellar Degenerations* / genetics
  • Spinocerebellar Degenerations* / pathology

Supplementary concepts

  • Spinocerebellar ataxia 8