Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.
Mehrdad A EstiarEtienne LeveilleDan SpiegelmanNicolas DupreJean-François TrempeGuy A RouleauZiv Gan OrPublished in: Molecular genetics & genomic medicine (2020)
Our study suggests that in HSP patients with psychiatric symptoms, ATP13A2 mutations should be suspected, especially if they also have extrapyramidal symptoms.