Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

Riccardo RoncoCecilia PeriniRiccardo CurròNatalia DominikStefano FacchiniAlice GennariRoberto SimoneSkye StuartSara NagyElisa VegezziIlaria QuartesanAmar El-SaddigTimothy LavinArianna TucciAgnieszka SzymuraLuiz Eduardo Novis De FariasAlexander GaryMegan DelfeldPriscilla KandikatlaNifang NiuSanjukta TawdeJoseph ShawJames PolkeMary M ReillyNick W WoodEmmanuele Crespan Christopher M GomezJin Yun Helen ChenJeremy Dan SchmahmannDavid GosalHenry HouldenSoma DasAndrea Cortese

Published in: Neurology (2022)

expansions. Also, it sheds further light on the pathogenesis of RFC1 CANVAS as it supports the existence of a loss of function mechanism underlying this complex neurodegenerative condition.

Keyphrases

copy number
early onset
case report
gene expression
dna methylation
health insurance