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

Christina Sundal1, Markus Axelsson1, Leif Wiklund2

  • 1Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

Multiple Sclerosis and Related Disorders
|April 19, 2019
PubMed

Insights

A rare ATXN7 gene premutation, typically linked to Spinocerebellar Ataxia type 7, was found in a primary progressive multiple sclerosis (MS) patient. This genetic finding suggests a potential role in modifying MS progression and symptoms.

Area of Science:

  • Neurogenetics
  • Neurology
  • Genomics

Background:

  • Complex genetic disorders can involve inherited Mendelian traits.
  • Hereditary spastic paraparesis is an example, affecting pyramidal symptoms in some Multiple Sclerosis (MS) cases.

Observation:

  • A patient meeting criteria for primary progressive MS presented with an atypical, early-onset, and severe cerebellar ataxia.
  • This patient carried a mutable ATXN7 gene, identified as a Spinocerebellar Ataxia type 7 (SCA7) premutation.

Findings:

  • The study identified an ATXN7 gene premutation in a patient with primary progressive MS.
  • The patient's symptom onset and severe cerebellar ataxia were outside the typical range for MS.

Implications:

  • The ATXN7 premutation may act as a novel genetic modifier influencing the clinical course of MS.
  • This discovery opens new avenues for understanding genetic contributions to MS heterogeneity.
  • Further research is warranted to explore the interaction between ATXN7 premutations and MS pathogenesis.
Keywords:
ComorbidityMendelianMultiple sclerosisPremutationSCA7

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