Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study

Suero, G. Ortega; Abildúa, María José Abenza; Munuera, C. Serrano; Axpe, I. Rouco; Gutiérrez, F.J. Arpa; Gómez, A.; Rivera, Francisco J.; Castro, Bayron; Rodríguez, I. Posada; Bermejo, Amanda; Santos, Á. Domingo; Vicente, Esther Blanco; Ceberio, I. Infante; Fernández, Julio Pardo; Arpín, Eva Costa; Marti, Carmen Gonzalez; Muñoz, Josefina; Rivera, Pablo Mir; Álvarez, Fátima; Alberola, Luís Bataller; Bayarri, Jordi Gascón; Pons, Carles; Santamaría, V. Vélez; Munáin, Adolfo López de; Fernández‐Eulate, Gorka; Abío, J. Gazulla; Gallego, Irene; Bartolome, Lauren; Martín, Óscar Ayo; Martin, Thomas S.; Mingot, C. González; Rovira, M. Baraldés; Mascaró, R. Sivera; Delgado, Esther Cubo; Íñiguez, A. Echavarría; Sánchez, F. Vázquez; Iglesias, M. Bártulos; Codina, Mercedes; Fernández, Eduardo; Guerra, Carmen Labandeira; Perna, B. Alemany; Hernández, Alfonso Buendía; Moreno, Corina; Larroy, Maria Palacín; Pons, Nicolas; Rivera, A. Ávila; Barrero, F.J. Navacerrada; Rodríguez, R. Lobato; Gómez, M J

doi:10.1016/j.nrleng.2023.04.003

Cited by 1 publication

(1 citation statement)

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“…Late-onset cerebellar ataxia (LOCA) is a group of neurodegenerative disorders manifesting with a progressive cerebellar syndrome after the age of 30 years [1,2]. The underlying causes of LOCA have until recently remained largely unknown [3], as suggested by the results of a recent Spanish registry study, in which approximately 50% of patients with LOCA remained without genetic diagnosis [4].…”

Section: Introductionmentioning

confidence: 99%

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia

Iruzubieta

Pellerin

Bergareche

et al. 2023

Euro J of Neurology

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BackgroundDominantly 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.MethodsWe recruited a consecutive series of 107 patients with LOCA. 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.ResultsEighteen of 64 patients (28%) carried an FGF14 (GAA)≥250 expansion. The median age at onset was 62.5 years (range, 39‐72). 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.ConclusionWe 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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