ELOVL4 mutation and spinocerebellar ataxia with retinitis pigmentosa

Takeaway

  • Spinocerebellar ataxia (SCA) and retinal dystrophy were associated with an ELOVL4 mutation in an American family.

Why this matters

    SCAs have >40 causative genes described; data from this study support ELOVL4 mutations as a cause of SCA and broaden the spectrum of clinical presentations associated with SCA34.