Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Neurology"
DOI: 10.1007/s00415-021-10499-5
Abstract: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogenic AAGGG(n) biallelic expansion repeat in the RFC1… read more here.
Keywords: expansion; ataxia; cohort; biallelic rfc1 ... See more keywords
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Neurology"
DOI: 10.1007/s00415-024-12229-z
Abstract: The cause of downbeat nystagmus (DBN) remains unknown in a substantial number of patients (“idiopathic”), although intronic GAA expansions in FGF14 have recently been shown to account for almost 50% of yet idiopathic cases. Here,… read more here.
Keywords: downbeat nystagmus; rfc1 repeat; biallelic rfc1; rfc1 ... See more keywords