Article
A Novel PINK1 p.F385S Loss-of-Function Mutation in an Indian Family with Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2024
Sharma Karan, Kishore Asha, Lechado-Terradas Anna, Passannanti Raffaele, Raimondi Francesco, Sturm Marc, Sreelatha Ashwin Ashok Kumar, Puthenveedu Divya Kalikavila, Sarma Gangadhara, Casadei Nicolas, Krüger Rejko, Gasser Thomas, Kahle Philipp, Riess Olaf, Fitzgerald Julia C, Sharma Manu
Abstract excerpt
BACKGROUND: Most Parkinson's disease (PD) loci have shown low prevalence in the Indian population, highlighting the need for further research. OBJECTIVE: The aim of this study was to characterize a novel phosphatase tensin homolog-induced serine/threonine kinase 1 (PINK1) mutation causing PD in an Indian family. METHODS: Exome sequencing of a well-characterized Indian family with PD. A novel PINK1 mutation was...
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