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

• DOI: 10.1016/j.nrleng.2023.04.003
• Publication Date: 2023-04-28T09:07:23Z
• Authors: G. Ortega Suero; M.J. Abenza Abildúa; C. Serrano Munuera; I. Rouco Axpe; F.J. Arpa Gutiérrez; A.D. Adarmes Gómez; F.J. Rodríguez de...; B. Quintans Castro; I. Posada Rodríguez; A. Vadillo Bermejo; Á. Domingo Santos; E. Blanco Vicente; I. Infante Ceberio; J. Pardo Fernández; E. Costa Arpín; C. Painous Martí; J.E. Muñoz García; P. Mir Rivera; F. Montón Álvarez; L. Bataller Alberola; J. Gascón Bayarri; C. Casasnovas Pons; V. Vélez Santamaría; A. López de Munain; G. Fernández-Eulate; J. Gazulla Abío; I. Sanz Gallego; L. Rojas Bartolomé; Ó. Ayo Martín; T. Segura Martín; C. González Mingot; M. Baraldés Rovira; R. Sivera Mascaró; E. Cubo Delgado; A. Echavarría Íñi...; F. Vázquez Sánchez; M. Bártulos Iglesias; M.T. Casadevall C...; E.M. Martínez Fer...; C. Labandeira Guerra; B. Alemany Perna; A. Carvajal Herná...; C. Fernández Moreno; M. Palacín Larroy; N. Caballol Pons; A. Ávila Rivera; F.J. Navacerrada ...; R. Lobato Rodríguez; M.J. Sobrido Gómez
• Keywords: Male; Cerebellar Ataxia; Medicina; Epidemiology; España; Hereditary spastic paraplegia; 03 medical and health sciences; Genetic map; 0302 clinical medicine; Genetics; Epidemiología; Humans; RC346-429; Movement disorders; Neurología; Retrospective Studies; Ataxias; Paraparesias espásticas hereditarias; Spastic Paraplegia, Hereditary; Trastorns motors; Middle Aged; Genética; 3. Good health; Nervous system-Diseases; Cross-Sectional Studies; Neurology; Spain; Sistema nervioso-Enfermedades; Medicine; Mapa genético; Ataxia; Female; Neurology. Diseases of the nervous system

Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019.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.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.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.