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

Fecha de publicación: 01/07/2023 Fecha Ahead of Print: 28/04/2023

Autores de IIS La Fe

Luís Bataller Alberola

Autor

Participantes ajenos a IIS La Fe

Ortega Suero, G
Abenza Abildua, M J
Serrano Munuera, C
Rouco Axpe, I
Arpa Gutierrez, F J
Adarmes Gomez, A D
Rodriguez de Rivera, F J
Quintans Castro, B
Posada Rodriguez, I
Vadillo Bermejo, A
Domingo Santos, A
Blanco Vicente, E
Infante Ceberio, I
Pardo Fernandez, J
Costa Arpin, E
Painous Marti, C
Muñoz García JE
Mir Rivera, P
Monton Alvarez, F
Gascon Bayarri, J
Casasnovas Pons, C
Velez Santamaria, V
Lopez de Munain, A
Fernandez-Eulate, G
Gazulla Abio, J
Sanz Gallego, I
Rojas Bartolome, L
Ayo Martin, O
Segura Martin, T
Gonzalez Mingot, C
Baraldes Rovira, M
Sivera Mascaro, R
Cubo Delgado, E
Echavarría Íñiguez A
Vazquez Sanchez, F
Bartulos Iglesias, M
Casadevall Codina, M T
Martinez Fernandez, E M
Labandeira Guerra, C
Alemany Perna, B
Carvajal Hernandez, A
Fernandez Moreno, C
Palacin Larroy, M
Caballol Pons, N
Avila Rivera, A
Navacerrada Barrero, F J
Lobato Rodriguez, R
Sobrido Gomez, M J

Grupos

Patología Neuromuscular y Ataxias

Investigador Principal

Teresa Sevilla Mantecón
Unidad mixta de investigación en enfermedades raras (CIPF)

Leader

José María Millán Salvador

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; 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.

Datos de la publicación

ISSN/ISSNe:: 2173-5808, 2173-5808
Tipo:: Article
Páginas:: 379-386
DOI:: 10.1016/j.nrleng.2023.04.003
PubMed:: 37120112

Documentos

No hay documentos

Métricas

Filiaciones

Keywords

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