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Journal of Neurology

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01-12-2021 | Bilateral Vestibulopathy | Letter to the Editors

Vestibular function testing in patients with RFC1 mutations

Authors: Gábor M. Halmágyi, David J. Szmulewicz

Published in: Journal of Neurology | Issue 12/2021

Excerpt

Dear Sirs, …

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. https://doi.org/10.1007/s00415-021-10552-3 (Epub ahead of print)CrossRefPubMedPubMedCentral

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. https://doi.org/10.1093/brain/awab072CrossRefPubMedPubMedCentral

Migliaccio AA, Halmagyi GM, McGarvie LA, Cremer PD (2004) Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign. Brain 127:280–293CrossRef

Szmulewicz DJ, Waterston JA, Halmagyi GM, Mossman S, Chancellor AM, McLean CA, Storey E (2011) Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome. Neurology 76:1903–1910CrossRef

Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E (2011) Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. Ann NY Acad Sci 1233:139–147CrossRef

Strupp M, Frenzel C, Goldschagg N, Halmagyi GM (2021) One bedside test—two clinical signs: one vestibular. The other ocular motor. Neurology. https://doi.org/10.1212/WNL.0000000000012080 (Epub ahead of print)CrossRefPubMedPubMedCentral

Szmulewicz DJ, Seiderer L, Halmagyi GM, Storey E, Roberts L (2015) Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome. Muscle Nerve 5:600–603CrossRef

Burke D, Halmagyi GM (2018) Normal tendon reflexes despite absent sensory nerve action potentials in CANVAS: a neurophysiological study. J Neurol Sci 387:75–79CrossRef

Szmulewicz DJ, McLean CA, Rodriguez ML, Chancellor AM, Mossman S, Lamont D, Roberts L, Storey E, Halmagyi GM (2014) Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS. Neurology 82:1410–1415CrossRef

10.

Ishai R, Seyyedi M, Chancellor AM, McLean CA, Rodriguez ML, Halmagyi GM, Nadol JB Jr, Szmulewicz DJ, Quesnel AM (2021) The pathology of the vestibular system in CANVAS. Otol Neurotol 42:e332–e340CrossRef

11.

Szmulewicz DJ, Roberts L, McLean CA, MacDougall HG, Halmagyi GM, Storey E (2016) Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Neurol Clin Pract 6:61–68CrossRef

12.

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 143:480–490CrossRef

13.

Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ (2019) Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS. Am J Hum Genet 105:151–165CrossRef

14.

Strupp M, Kim JS, Murofushi T, Straumann D, Jen JC, Rosengren SM, Della Santina CC, Kingma H (2017) Bilateral vestibulopathy: diagnostic criteria consensus document of the classification committee of the bárány society. J Vestib Res 27(4):177–189CrossRef

15.

Halmagyi GM, Chen L, MacDougall HG, Weber KP, McGarvie LA, Curthoys IS (2017) The video head impulse test. Front Neurol 8:258. https://doi.org/10.3389/fneur.2017.00258CrossRefPubMedPubMedCentral

16.

Lee JY, Kwon E, Kim HJ, Choi JY, Oh HJ, Koo JW, Kim JS (2020) Dissociated results between caloric and video head impulse tests in dizziness: prevalence, pattern, lesion location, and etiology. J Clin Neurol 16(2):277–284. https://doi.org/10.3988/jcn.2020.16.2.277CrossRefPubMedPubMedCentral

17.

McGarvie LA, MacDougall HG, Halmagyi GM, Burgess AM, Weber KP, Curthoys IS (2015) The video head impulse test (vhit) of semicircular canal function—age-dependent normative values of VOR gain in healthy subjects. Front Neurol 6:154. https://doi.org/10.3389/fneur.2015.00154CrossRefPubMedPubMedCentral

18.

Halmagyi GM, Curthoys IS (1988) A clinical sign of canal paresis. Arch Neurol 45:737–739CrossRef

Title: Vestibular function testing in patients with RFC1 mutations
Authors: Gábor M. Halmágyi
David J. Szmulewicz
Publication date: 01-12-2021
Publisher: Springer Berlin Heidelberg
Keyword: Bilateral Vestibulopathy
Published in: Journal of Neurology / Issue 12/2021
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-021-10698-0

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Vestibular function testing in patients with RFC1 mutations

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