RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.

Andona MilovanovićNataša Dragaševic-MiškovićMirja ThomsenMax BorscheFrauke HinrichsAna WestenbergerChristine KleinNorbert BrüggemannMarija BrankovićAna MarjanovićMarina SvetelVladimir S KostićKatja Lohmann

Published in: Movement disorders clinical practice (2024)

Pathogenic repeat expansions in RFC1 and FGF14 are relatively frequent causes of adult-onset cerebellar ataxia, especially among sporadic patients, indicating that family history should not be considered when prioritizing ataxia patients for testing of RFC1 or FGF14 repeat expansions.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
early onset
peritoneal dialysis
late onset
patient reported