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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),… Click to show full 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 was present in ~92% of cases. This study aimed to examine whether the pentanucleotide repeat (PNR) was related to multiple system atrophy (MSA), which shares a spectrum of symptoms with CANVAS.
Keywords:
aaggg;
expansion;
system atrophy;
related multiple;
rfc1;
multiple system
Journal Title: Annals of Neurology
Year Published: 2020
Link to full text (if available)
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Journal Title: Annals of Neurology
Year Published: 2020
Link to full text (if available)
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recommendations!