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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