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SNP rs7549881, near SGIP1 at 1p31.3, is significantly associated with digestive disorders and Parkinsonism in women
2024-10-06
neurology
Title + abstract only
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BackgroundA recent study identified a mutation in the SH3GL Interacting Endocytic Adaptor 1 (SGIP1) gene, located at 1p31.3, linked to early-onset Parkinsonism in 2 sisters in an Arab family with a history of young-onset Parkinson symptoms. SGIP1 had not been previously associated with Parkinsonism, a group of disorders including Parkinsons disease (PD), characterized by motor dysfunction and cognitive decline. SGIP1 plays a role in endocytosis, particularly clathrin-mediated synaptic vesicle re...
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