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

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

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Autores de IDIVAL

  • Jon Infante Ceberio

    Autor

Autores ajenos al IDIVAL

  • Ortega Suero G
  • Abenza Abildúa MJ
  • Serrano Munuera C
  • Rouco Axpe I
  • Arpa Gutiérrez FJ
  • Adarmes Gómez AD
  • Rodríguez de Rivera FJ
  • Quintans Castro B
  • Posada Rodríguez I
  • Vadillo Bermejo A
  • Domingo Santos Á
  • Blanco Vicente E
  • Pardo Fernández J
  • Costa Arpín E
  • Painous Martí C
  • Muñoz JE
  • Mir Rivera P
  • Montón Álvarez F
  • Bataller Alberola L
  • Gascón Bayarri J
  • Casasnovas Pons C
  • Vélez Santamaría V
  • López de Munain A
  • Fernández-Eulate G
  • Gazulla Abío J
  • Sanz Gallego I
  • Rojas Bartolomé L
  • Ayo Martín Ó
  • Segura Martín T
  • González Mingot C
  • Baraldés Rovira M
  • Sivera Mascaró R
  • Cubo Delgado E
  • Echavarría Íñiguez A
  • Vázquez Sánchez F
  • Bártulos Iglesias M
  • Casadevall Codina MT
  • Martínez Fernández EM
  • Labandeira Guerra C
  • Alemany Perna B
  • Carvajal Hernández A
  • Fernández Moreno C
  • Palacín Larroy M
  • Caballol Pons N
  • Ávila Rivera A
  • Navacerrada Barrero FJ
  • Lobato Rodríguez R
  • Sobrido Gómez MJ

Unidades

Abstract

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; 982 patients were men (50.8%) and 951 were women (49.2%). 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.

Copyright © 2021 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

Datos de la publicación

ISSN/ISSNe:
2173-5808, 2173-5808

Neurologia  

Tipo:
Article
Páginas:
379-386
PubMed:
37120112

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Keywords

  • Ataxia; Ataxias; Epidemiology; Epidemiología; Genetic map; Genetics; Genética; Hereditary spastic paraplegia; Mapa genético; Paraparesias espásticas hereditarias

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