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01-07-2021 | Nystagmus | Letter to the Editor

Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings

Authors: A. Bargagli, F. Rosini, D. Zanca, V. Serchi, A. Rufa

Published in: Neurological Sciences | Issue 7/2021

Excerpt

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene SETX (OMIM #606002), causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, oculomotor apraxia, and elevated alpha-feto-protein (AFP) serum level [1]. …

Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, le Ber I, Koht J, Gazulla J, de Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M’Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M (2009) Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain. 132:2688–2698. https://doi.org/10.1093/brain/awp211CrossRefPubMed

Zee DS, Yee RD, Singer HS (1977) Congenital ocular motor apraxia. Brain 100:581–599. https://doi.org/10.1093/brain/100.3.581CrossRefPubMed

Panouillères M, Frismand S, Sillan O et al (2013) Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. Cerebellum 124:557–567. https://doi.org/10.1007/s12311-013-0463-1CrossRef

Mignarri A, Tessa A, Federico A, Santorelli FM, Dotti MT (2015) Ataxia with oculomotor apraxia type 2: not always an easy diagnosis. Neurol Sci 36(8):1505–1507. https://doi.org/10.1007/s10072-015-2119-zCrossRefPubMed

Federighi P, Cevenini G, Dotti MT, Rosini F, Pretegiani E, Federico A, Rufa A (2011) Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. Brain. 134:879–891. https://doi.org/10.1093/brain/awr009CrossRefPubMed

Title: Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings
Authors: A. Bargagli
F. Rosini
D. Zanca
V. Serchi
A. Rufa
Publication date: 01-07-2021
Publisher: Springer International Publishing
Keywords: Nystagmus
Apraxia
Gaze-Evoked Nystagmus
Published in: Neurological Sciences / Issue 7/2021
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05206-1

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Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings

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