Article
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
Brain : a journal of neurology - 1 Sept 2020
Beecroft Sarah J, Cortese Andrea, Sullivan Roisin, Yau Wai Yan, Dyer Zoe, Wu Teddy Y, Mulroy Eoin, Pelosi Luciana, Rodrigues Miriam, Taylor Rachael, Mossman Stuart, Leadbetter Ruth, Cleland James, Anderson Tim, Ravenscroft Gianina, Laing Nigel G, Houlden Henry, Reilly Mary M, Roxburgh Richard H
Abstract excerpt
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative disease with onset in mid- to late adulthood. The genetic basis for a large proportion of Caucasian patients was recently shown to be the biallelic expansion of a pentanucleotide (AAGGG)n repeat in RFC1. Here, we describe the first instance of CANVAS genetic testing in New Zealand...
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