Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.
Maryam Erfanian OmidvarShahram TorkamandiSomaye RezaeiBehnam AlipoorMir Davood OmraniHossein DarvishHamid GhaediPublished in: Journal of neurology (2019)
Our comprehensive genotype-phenotype assessment of available data displays that the mean age at disease onset and particular sub-phenotypes are associated with specific mutated genes which might be beneficial for a diagnostic procedure and differentiation of the specific mutated genes phenotype among diverse forms of HSP.