Neurología (English Edition) · 2023 · 11 citations · 17 references
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.
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Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
Rebecca Schüle, Sarah Wiethoff, Peter Martus et al. · Annals of Neurology · 2016 · 298 citations
HEREDITARY ATAXIAS AND PARAPLEGIAS IN CANTABRIA, SPAIN
J. M. Polo, Jesús Calleja, Onofre Combarros et al. · Brain · 1991 · 177 citations
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2
Claudia Cagnoli, Caterina Mariotti, Franco Taroni et al. · Brain · 2005 · 139 citations · Full text