The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene
- PMID: 36214978
- DOI: 10.1007/s13760-022-02116-7
The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene
Keywords: CANVAS; RFC1-related sensory neuropathy; Vestibular areflexia; Vestibular test.
References
-
- Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H (2019) Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet 51(4):649–658. https://doi.org/10.1038/s41588-019-0372-4 (Epub 2019 Mar 29. Erratum in: Nat Genet. 2019 May;51(5):920. PMID: 30926972; PMCID: PMC6709527) - DOI - PubMed - PMC
-
- Currò R, Salvalaggio A, Tozza S, Gemelli C, Dominik N, Galassi Deforie V, Magrinelli F, Castellani F, Vegezzi E, Businaro P, Callegari I, Pichiecchio A, Cosentino G, Alfonsi E, Marchioni E, Colnaghi S, Gana S, Valente EM, Tassorelli C, Efthymiou S, Facchini S, Carr A, Laura M, Rossor AM, Manji H, Lunn MP, Pegoraro E, Santoro L, Grandis M, Bellone E, Beauchamp NJ, Hadjivassiliou M, Kaski D, Bronstein AM, Houlden H, Reilly MM, Mandich P, Schenone A, Manganelli F, Briani C, Cortese A (2021) RFC1 expansions are a common cause of idiopathic sensory neuropathy. Brain 144(5):1542–1550. https://doi.org/10.1093/brain/awab072 (PMID:33969391;PMCID:PMC8262986) - DOI - PubMed - PMC
-
- Tagliapietra M, Cardellini D, Ferrarini M, Testi S, Ferrari S, Monaco S, Cavallaro T, Fabrizi GM (2021) RFC1 AAGGG repeat expansion masquerading as chronic idiopathic axonal polyneuropathy. J Neurol 268(11):4280–4290. https://doi.org/10.1007/s00415-021-10552-3 (Epub 2021 Apr 21. PMID: 33884451; PMCID: PMC8505379) - DOI - PubMed - PMC
-
- Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM (2020) Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain 143(2):480–490. https://doi.org/10.1093/brain/awz418 (PMID:32040566;PMCID:PMC7009469) - DOI - PubMed - PMC
-
- Tozza S, Cortese A, Iovino A, Esposito M, Dominik N, Iodice R, Manganelli F (2020) Bedside head impulse test: a useful tool for patients with sensory ataxia. Neurol Genet 7(1):e541. https://doi.org/10.1212/NXG.0000000000000541 (PMID:33728375;PMCID:PMC7879339) - DOI - PubMed - PMC
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