A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease
Author:
Funder
National Health and Medical Research Council
Medical Research Future Fund
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00415-024-12675-9.pdf
Reference15 articles.
1. Szmulewicz DJ, Waterston JA, Halmagyi GM et al (2011) Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome. Neurology 76:1903–1910
2. Cortese A, Tozza S, Yau WY et al (2020) Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain 143:480–490
3. Dujardin K, Tard C, Diglé E et al (2024) Cognitive impairment is part of the phenotype of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Mov Disord 39:892–897
4. Korpioja A, Krüger J, Hurme-Niiranen A et al (2022) Cognitive impairment is not uncommon in patients with biallelic RFC1 AAGGG repeat expansion, but the expansion is rare in patients with cognitive disease. Parkinsonism Relat Disord 103:98–101
5. Cortese A, Simone R, Sullivan R et al (2019) Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet 51:649–658
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