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 Brüggemann

Published 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.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
early onset
peritoneal dialysis
electronic health record
patient reported outcomes
data analysis