Please use this identifier to cite or link to this item: https://dipositint.ub.edu/dspace/handle/2445/208721
Title: Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia
Author: Iruzubieta, Pablo
Pellerin, David
Bergareche, Alberto
Albajar, Inés
Mondragón, Elisabet
Vinagre, Ana
Fernández‐torrón, Roberto
Moreno, Fermín
Equiza, Jon
Campo‐caballero, David
Poza, Juan José
Ruibal, Marta
Formica, Alessandro
Dicaire, Marie‐josée
Danzi, Matt C.
Zuchner, Stephan
Croitoru, Ioana
Ruiz, Montserrat
Schlüter, Agatha
Casasnovas, Carlos
Pujol, Aurora
Brais, Bernard
Houlden, Henry
López de munain, Adolfo
Ruiz‐martínez, Javier
Issue Date: 14-Aug-2023
Publisher: Wiley
Abstract: Background and purpose: Dominantly inherited GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene have recently been shown to cause spinocerebellar ataxia 27B (SCA27B). We aimed to study the frequency and phenotype of SCA27B in a cohort of patients with unsolved late-onset cerebellar ataxia (LOCA). We also assessed the frequency of SCA27B relative to other genetically defined LOCAs. Methods: We recruited a consecutive series of 107 patients with LOCA, of whom 64 remained genetically undiagnosed. We creened these 64 patients for the FGF14 GAA repeat expansion. We next analysed the frequency of SCA27B relative to other genetically defined forms of LOCA in the cohort of 107 patients. Results: Eighteen of 64 patients (28%) carried an FGF14 (GAA)≥250 expansion. The median (range) age at onset was 62.5 (39–72) years. The most common clinical features included gait ataxia (100%) and mild cerebellar dysarthria (67%). In addition, episodic symptoms and downbeat nystagmus were present in 39% (7/18) and 37% (6/16) of patients, respectively. SCA27B was the most common cause of LOCA in our cohort (17%, 18/107). Among patients with genetically defined LOCA, SCA27B was the main cause of pure ataxia, RFC1-related disease of ataxia with neuropathy, and SPG7 of ataxia with spasticity. Conclusion: We showed that SCA27B is the most common cause of LOCA in our cohort. Our results support the use of FGF14 GAA repeat expansion screening as a first-tier genetic test in patients with LOCA.
Note: Reproducció del document publicat a: https://doi.org/10.1111/ene.16039
It is part of: European Journal of Neurology, 2023, vol. 30, issue. 12, p. 3828-3833
URI: https://hdl.handle.net/2445/208721
Related resource: https://doi.org/10.1111/ene.16039
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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