X-Linked Levodopa-Responsive Parkinsonism-Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review.
Thiago Gonçalves GuimarãesJacy Bezerra ParmeraMatheus Augusto Araujo CastroRubens Gisbert CuryEgberto Reis BarbosaFernando KokPublished in: Movement disorders clinical practice (2024)
This report aims to shed light on an overlooked gene that causes hereditary parkinsonian syndromes. Further research regarding genetic pathways in PD may provide a better understanding of its pathophysiology and open possibilities for new disease-modifying trials, such as SNCA, LRRK2, PRKN, PINK1, and DJ-1 genes.