Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis

Author:

Barghigiani Melissa,De Michele Giovanna,Tessa Alessandra,Fico Tommasina,Natale Gemma,Saccà Francesco,Pane Chiara,Cuomo Nunzia,De Rosa Anna,Pappatà Sabina,De Michele Giuseppe,Santorelli Filippo M.,Filla AlessandroORCID

Funder

AISA

Ministry of Health

PREPARE

PROSPAX

Ministry of Health Ricerca Corrente 5x1000

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Reference24 articles.

1. 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 51:649–658. https://doi.org/10.1038/s41588-019-0372-4

2. 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 143:480–490. https://doi.org/10.1093/brain/awz418

3. Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A (2021) Motor neuron pathology in CANVAS due to RFC1 expansions. Brain. https://doi.org/10.1093/brain/awab449

4. Da Silva SG, Martinez ARM, da Graça FF, de Lima FD, Bonadia LC, Amorim BJ, Nucci A, França MC Jr (2020) Dopa-responsive Parkinsonism in a patient with homozygous RFC1 expansions. Mov Disord 35:1889–1890. https://doi.org/10.1002/mds.28286

5. Kytövuori L, Sipilä J, Doi H, Hurme-Niiranen A, Siitonen A, Koshimizu E, Miyatake S, Matsumoto N, Tanaka F, Majamaa K (2022) Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease. NPJ Parkinsons Dis 8:6. https://doi.org/10.1038/s41531-021-00275-7

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