Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia
European Journal of Neurology2023Vol. 30(12), pp. 3828–3833
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Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albájar, Elisabet Mondragón, Ana Vinagre‐Aragón, Roberto Fernández‐Torrón, Fermín Moreno, Jon Equiza, David Campo‐Caballero, Juan José Poza, M. Ruibal, Alessandro Formica, Marie‐Josée Dicaire, Matt C. Danzi, Stephan Züchner, Ioana Croitoru, Montserrat Ruíz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munaín, Javier Ruiz‐Martínez
Abstract
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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