CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion
Author:
Affiliation:
1. Division of Neuro-otology & Neurogenetics, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, USA
Abstract
Publisher
Oxford University Press (OUP)
Subject
Clinical Neurology
Link
http://academic.oup.com/brain/article-pdf/143/2/386/32413852/awaa015.pdf
Reference10 articles.
1. Investigation of the RFC1 repeat expansion in a Canadian and a Brazilian Ataxia Cohort: identification of novel conformations;Akçimen;Front Genet,2019
2. The neck-eye reflex in patients with reduced vestibular and optokinetic function;Bronstein;Brain,1991
3. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion;Campuzano;Science,1996
4. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia;Cortese;Nat Genet,2019
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1. AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons;2023-12-14
2. The Strange Case of the Multiple MRI Phenotypes of RFC1 Mutation;The Cerebellum;2022-03-31
3. Spinal cord lesion mimicking a dysimmune myelitis revealing CANVAS syndrome;The Journal of Spinal Cord Medicine;2022-03-02
4. CANVAS: A primary progressive multiple sclerosis mimic;Neuroimmunology Reports;2021-12
5. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review;Neuromuscular Diseases;2020-12-06
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