2026-04-17T11:57:20Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/2083902025-12-05T12:04:51Zcom_2072_1057col_2072_478916col_2072_478917

00925njm 22002777a 4500 dc Ortega Suero, G. author Abenza Abildúa, M. J. author Serrano Munuera, C. author Rouco Axpe, I. author Arpa Gutiérrez, F. J. author Adarmes Gómez, A. D. author Rodríguez de Rivera, F. J. author Quintans Castro, B. author Posada Rodríguez, I. author Vadillo Bermejo, A. author Domingo Santos, Á. author Blanco Vicente, E. author Infante Ceberio, I. author Pardo Fernández, J. author Costa Arpín, E. author Painous Martí, Cèlia author Muñoz, J. E. author Mir Rivera, P. author Montón Álvarez, F. author Bataller Alberola, L. author Gascón-Bayarri, Jordi author Casasnovas Pons, C. author Vélez Santamaria, Valentina author López de Munain, A. author Fernández Eulate, G. author Gazulla Abío, J. author Sanz Gallego, I. author Rojas Bartolomé, L. author Ayo Martín, Ó. author Segura Martín, T. author González Mingot, C. author Baraldés Rovira, M. author Sivera Mascaró, R. author Cubo Delgado, E. author Echavarría Íñiguez, A. author Vázquez Sánchez, F. author Bártulos Iglesias, M. author Casadevall Codina, M. T. author Martínez Fernández, E. M. author Labandeira Guerra, C. author Alemany Perna, B. author Carvajal Hernández, A. author Fernández Moreno, C. author Palacín Larroy, M. author Caballol Pons, N. author Ávila Rivera, A. author Navacerrada Barrero, F. J. author Lobato Rodríguez, R. author Sobrido Gómez, M. J. author 2024-03-05T12:11:03Z 2024-03-05T12:11:03Z 2023-07-01 2024-02-26T12:59:34Z Introduction: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. Patients and methods: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. Results: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. Conclusions: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials. (c) 2021 Sociedad Espanola de Neurologia. Published by Elsevier Espana, S.L.U. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/ 4.0/). Trastorns motors España Movement disorders Spain Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España