Biomarkers distinguish individuals with spinocerebellar ataxia and pathological mutation carriers from healthy controls

  • Individuals with spinocerebellar ataxia and carriers of the pathological ATXN1 (n=45) or ATXN3 (n=116) expansion were compared to healthy controls (n=39) across clinical, cognitive, quantitative motor, neuropsychological measures and plasma neurofilament light chain (NfL) measurements.
  • Individuals with ataxia had worse functional scores, fatigue and depression scores, increased difficulty swallowing, and higher cognitive impairment than mutation carriers. Individuals who were carriers of either ATXN mutation had significantly higher plasma NfL levels than healthy controls (P<0.0001).
  • The authors concluded that NfL levels and early sensory ataxia were quantifiably different between carriers and healthy controls and may offer an early screening tool. Likewise, progression to ataxia results in clinical and biological quantifiable changes.