A SCA7 premutation may be a novel Mendelian modifier of MS course: A case report

Mult Scler Relat Disord. 2019 Jun;31:148-150. doi: 10.1016/j.msard.2019.04.009. Epub 2019 Apr 13.

Abstract

A proportion of patients with the phenotype of complex genetic disorders carry dominantly inherited Mendelian traits, exemplified by hereditary spastic paraparesis influencing pyramidal symptoms in some MS cases. We here describe a mutable ATXN7 gene, a SCA7 premutation, in a patient fulfilling contemporary definitions of primary progressive MS. His onset age, and onset with a severely progressive cerebellar ataxia syndrome, was outside the reported range of symptoms in a representative MS material. We suggest that an ATXN7 premutation is a novel genetic modifier of the course of MS.

Keywords: Comorbidity; Mendelian; Multiple sclerosis; Premutation; SCA7.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ataxin-7 / genetics*
  • Brain / diagnostic imaging
  • Brain / pathology
  • Cerebellar Ataxia / complications
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Multiple Sclerosis, Chronic Progressive / complications
  • Multiple Sclerosis, Chronic Progressive / diagnostic imaging
  • Multiple Sclerosis, Chronic Progressive / genetics*
  • Multiple Sclerosis, Chronic Progressive / pathology
  • Mutation

Substances

  • ATXN7 protein, human
  • Ataxin-7