Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy
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DOI: 10.1002/ana.25902
Abstract: A recessive biallelic repeat expansion, (AAGGG)exp, in the RFC1 gene has been reported to be a frequent cause of late‐onset ataxia. For cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), the recessive biallelic (AAGGG)exp genotype… read more here.
Keywords: aaggg; expansion; system atrophy; related multiple ... See more keywords
Association of biallelic RFC1 expansion with early‐onset Parkinson's disease
Sign Up to like & getrecommendations! Published in 2023 at "European Journal of Neurology"
DOI: 10.1111/ene.15717
Abstract: The biallelic repeat expansion (AAGGG)exp in the replication factor C subunit 1 gene (RFC1) is a frequent cause of cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) as well as late‐onset ataxia. The clinical spectrum… read more here.
Keywords: rfc1; association biallelic; disease; parkinson disease ... See more keywords