Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity.
Andreas DalskiMartje G PaulyHenrike HanssenJohann HagenahYorck HellenbroichChristian SchmidtJassemien StrohschehnMalte SpielmannChristine ZühlkeNorbert BrüggemannPublished in: Journal of neurology (2024)
Our protocol enables cost-effective and robust screening for the causative SCA4 RE within ZFHX3. Furthermore, detailed clinical data of our patients gives a more precise view on SCA4, which seems to be more common among patients with ataxia than expected.