Article
Expanding the Clinical and Mutational Spectrum of FBXO7-Related Parkinsonism: A Novel Italian Family and Comprehensive Literature Review.
Genes - 30 Jun 2026
Zampatti Stefania, Strafella Claudia, Campopiano Rosa, Peconi Cristina, Farro Juliette, De Pinto Francesca Chiara, Fantozzi Roberta, Modugno Nicola, Gambardella Stefano, Caltagirone Carlo, Giardina Emiliano
Abstract excerpt
BACKGROUND: Mutations in the FBXO7 gene (PARK15) cause an autosomal recessive, early-onset neurodegenerative disorder typically presenting as Parkinsonian-Pyramidal Syndrome (PPS). Despite its recognition, the high phenotypic variability often delays diagnosis. Here, we report a novel Italian family and synthesize data from all published cases to date, offering an updated clinical and molecular overview of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.