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Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. 2023
Pablo Iruzubieta, and
David Pellerin, and
Alberto Bergareche, and
Inés Albajar, and
Elisabet Mondragón, and
Ana Vinagre, and
Roberto Fernández-Torrón, and
Fermín Moreno, and
Jon Equiza, and
David Campo-Caballero, and
Juan José Poza, and
Marta Ruibal, and
Alessandro Formica, and
Marie-Josée Dicaire, and
Matt C Danzi, and
Stephan Zuchner, and
Ioana Croitoru, and
Montserrat Ruiz, and
Agatha Schlüter, and
Carlos Casasnovas, and
Aurora Pujol, and
Bernard Brais, and
Henry Houlden, and
Adolfo López de Munain, and
Javier Ruiz-Martínez
Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
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. We recruited a consecutive series of 107 patients with LOCA, of whom 64 remained genetically undiagnosed. We screened 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. 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. 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.
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