A candidate loss-of-function variant in SGIP1 causes synaptic dysfunction and recessive parkinsonism.
Decet M, Scott P, Kuenen S, Meftah D, Swerts J, Calatayud C, Gallego SF, Kaempf N, Nachman E, Praschberger R, Schoovaerts N, Tang CC, Eidelberg D, Al Adawi S, Al Asmi A, Nandhagopal R, Verstreken P.
Decet M, et al.
Cell Rep Med. 2024 Oct 15;5(10):101749. doi: 10.1016/j.xcrm.2024.101749. Epub 2024 Sep 26.
Cell Rep Med. 2024.
PMID: 39332416
Free PMC article.
We have identified a candidate causative mutation in synaptic "SH3GL2 Interacting Protein 1" (SGIP1), linked to early-onset parkinsonism in a consanguineous Arab family. Additionally, affected siblings display intellectual, cognitive, and behavioral dysfunction. Metabolic …
We have identified a candidate causative mutation in synaptic "SH3GL2 Interacting Protein 1" (SGIP1), linked to early-onset parkinson …