A new study has assessed the epidemiology of ataxia, of which Friedrich ataxia (FA) is a form, and hereditary spastic paraplegia (HSP) in Spain between March 2018 and December 2019.
The study, published in the English edition of Neurología, found a prevalence of 7.73 per 100,000 population.
“There is currently no epidemiological map of the types of ataxia and HSP in Spain,” the authors wrote. “The aim of our study is to determine approximate prevalence data for ataxia and HSP in Spain in 2019, and the geographical distribution of the mutations and genes involved.”
The researchers conducted a cross-sectional, multicenter, retrospective, descriptive epidemiological study on the prevalence of ataxia and HSP, with the aim of assisting with resource allocation, development of healthcare policies, identification of lines of research, and planning of clinical studies. A total of 1933 patients between 16 and 60 years old and 47 neurologists or geneticists from 11 autonomous communities in Spain were included.
Read more about FA epidemiology
Age, sex, birthdate and place, date of symptom onset, healthcare center, family history, phenotype, and genetic studies and mutations were recorded.
The results revealed an overall prevalence of ataxia and HSP of 7.73 per 100,000, which is similar to other countries. More specifically, ataxia had a prevalence of 5.48 and HSP a prevalence of 2.24 per 100,000 population. The most common dominant ataxia was SCA3 and the most common recessive ataxia was FA.
The authors note that only 47.6% of the cases provided genetic diagnoses, which represents a significant limitation of the study. Genetic diagnosis provides essential information on mutation frequency, which helps optimize screening programs, national registries, and resource allocation for therapeutic development and clinical studies. However, to date, this study provides the most comprehensive information available on the frequency and geographic distribution of ataxia and HSP in Spain.
Ortega Suero G, Abenza Abildúa MJ, Serrano Munuera C, et al. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study. Neurologia (Engl Ed). Published online May 7, 2023. doi:10.1016/j.nrleng.2023.04.003