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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 |
Keywords: | Cerebel Fenotip Cerebellum Phenotype |
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, num. 12, p. 3828-3833 |
URI: | http://hdl.handle.net/2445/208721 |
Related resource: | https://doi.org/10.1111/ene.16039 |
ISSN: | 1468-1331 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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FREQUENCY AND PHENOTYPE OF GAA short com v3(3).pdf | 758.44 kB | Adobe PDF | View/Open |
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