SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Roy N AlcalayVictoria MallettBenoît VanderperreOmid TavassolyYves DauvilliersRichard Y J WuJennifer A RuskeyClaire S LeblondAmirthagowri AmbalavananSandra B LaurentDan SpiegelmanAlexandre Dionne-LaporteChristopher LiongOren A LevyStanley FahnCheryl WatersSheng-Han KuoWendy K ChungBlair FordKaren S MarderUn Jung KangSharon Hassin-BaerLior GreenbaumJean-Francois TrempePavlina WolfPetra OlivaXiaokui Kate ZhangLorraine N ClarkMelanie LangloisPatrick A DionEdward A FonNicolas DupreGuy A RouleauZiv Gan OrPublished in: Movement disorders : official journal of the Movement Disorder Society (2019)
Our results support an association between SMPD1 variants, acid-sphingomyelinase activity, and PD. Furthermore, they suggest that reduced acid-sphingomyelinase activity may lead to α-synuclein accumulation. © 2019 International Parkinson and Movement Disorder Society.
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