Association between plasma glucosylsphingosine levels and dyskinesia burden in GBA1-related Parkinson's disease.
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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
Аннотация
OBJECTIVE: Investigating the relationships between GBA1 mutations, GCase, GlcSph, and clinical features in a large PD cohort.
METHODS: We performed a cross-sectional study of PD patients screened for GBA1 mutations, GCase activity, and GlcSph via dried blood spot tests. Patients were classified as heterozygous mutation carriers (GBA1-PD) or non-carriers (nonGBA1-PD). Collected data included motor and non-motor parameters. Molecular and clinical differences were compared between GBA1-PD and nonGBA1-PD. Distinctive clinical features were further investigated through multivariate models to test their correlations with biochemical data.
RESULTS: The cohort included 611 subjects (225 GBA1-PD, 386 nonGBA1-PD). GBA1-PD presented earlier onset, lower cognitive scores, higher incidence of mood disturbances and more advanced stage. Motor assessment revealed a higher frequency and severity of dyskinesias, independently from disease duration and LEDD. GlcSph levels showed an independent correlation with dyskinesia severity and time at onset in GBA1-PD patients, which was independent of sex, LEDD, UPDRS-III, disease duration and GBA1 mutation class.
CONCLUSIONS: This study reveals an association between GlcSph and dyskinesias in GBA1-PD, that should prompt further investigation to assess the GlcSph role as a possible biomarker and target to tackle dyskinesias in GBA1-PD.