Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis

► We review GLB1 mutations and clinical features from 65 Brazilian patients. ► Molecular analysis showed 18 different mutations. ► Cognitive impairment was the main clinical sign, followed by hepatosplenomegaly. ► A significant correlation between age and the presence of mutation was observed. ► Overall our findings differ from literature, both at clinical and molecular level.