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Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis

Abramzon, Y; Dewan, R; Cortese, A; Resnick, S; Ferrucci, L; Houlden, H; Traynor, BJ; (2021) Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis. Journal of the Neurological Sciences , 430 , Article 118061. 10.1016/j.jns.2021.118061.

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Abstract

A homozygous AAGGG repeat expansion within the RFC1 gene was recently described as a common cause of CANVAS syndrome. We examined 1069 sporadic ALS patients for the presence of this repeat expansion. We did not discover any carriers of the homozygous AAGGG expansion in our ALS cohort, indicating that this form of RFC1 repeat expansions is not a common cause of sporadic ALS. However, our study did identify a novel repeat conformation and further expanded on the highly polymorphic nature of the RFC1 locus.

Type: Article
Title: Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis
Location: Netherlands
DOI: 10.1016/j.jns.2021.118061
Publisher version: https://doi.org/10.1016/j.jns.2021.118061
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: ALS, Motor neuron disorders, RFC1
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10135515
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