Article
Association between plasma glucosylsphingosine levels and dyskinesia burden in GBA1-related Parkinson's disease.
Neurobiology of disease - 1 Feb 2026
Marano Massimo, Zizzo Carmela, Cavallieri Francesco, Avenali Micol, Schirinzi Tommaso, Monfrini Edoardo, Spagnolo Francesca, De Micco Rosa, Ramat Silvia, Malaguti Maria Chiara, Reali Federico, Cilia Roberto, Carecchio Miryam, Pilotto Andrea, Erro Roberto, di Vico Ilaria Antonella, Meloni Mario, Di Lazzaro Giulia, Pietracupa Sara, Ledda Claudia, Mostile Giovanni, Mascia Marcello Mario, Fioravanti Valentina, di Rauso Giulia, Bovenzi Roberta, Aloisio Simone, Liccari Marco, Bacchin Ruggero, Colucci Fabiana, Bonato Giulia, Lupini Alessandro, Magliozzi Alessandro, Sorrentino Cristiano, Leo Francesca, Franco Giulia, Modugno Nicola, Zibetti Maurizio, Arabia Gennarina, Bentivoglio Anna Rita, Caputo Elena, Tamma Filippo, Padovani Alessandro, Zappia Mario, Eleopra Roberto, Tinazzi Michele, Fabbrini Giovanni, Tessitore Alessandro, Di Lazzaro Vincenzo, Valente Enza Maria, Duro Giovanni, Di Fonzo Alessio
Abstract excerpt
BACKGROUND: GBA1 mutation is the most significant genetic risk factor for Parkinson's disease (PD). It encodes glucocerebrosidase (GCase), whose dysfunction - seen in Gaucher disease - leads to the accumulation of glucosylceramide and its derivate glucosylsphingosine (GlcSph). However, it remains unclear whether GCase and GlcSph are relevant in PD patients carrying no or monoallelic GBA1 variants, and what their...
Read the complete abstract on PubMed