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Article

The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease.

Human molecular genetics - 3 Jul 2025

Serebryany-Piavsky Vera, Egulsky Lian, Manoim-Wolkovitz Julia Elia, Anis Saar, Hassin-Baer Sharon, Parnas Moshe, Horowitz Mia

Abstract excerpt

Parkinson disease (PD) is the second most common neurodegenerative disease. While most cases are sporadic, in ~ 5%-10% of PD patients the disease is caused by mutations in several genes, among them GBA1 (glucocerebrosidase beta 1) and LRRK2 (leucine-rich repeat kinase 2), both prevalent among the Ashkenazi Jewish population. LRRK2-associated PD tends to be milder than GBA1-associated PD. Several recent clinical...

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Identifiers

PMID: 40315377
DOI: 10.1093/hmg/ddaf062
PMCID: PMC12228092

Genes

GBA1

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