Article
Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2022
Surface Matthew, Balwani Manisha, Waters Cheryl, Haimovich Alexander, Gan-Or Ziv, Marder Karen S, Hsieh Tammy, Song Linxia, Padmanabhan Shalini, Hsieh Frank, Merchant Kalpana M, Alcalay Roy N
Abstract excerpt
BACKGROUND: Biallelic mutations in the GBA1 gene encoding glucocerebrosidase cause Gaucher's disease, whereas heterozygous carriers are at risk for Parkinson's disease (PD). Glucosylsphingosine is a clinically meaningful biomarker of Gaucher's disease but could not be assayed previously in heterozygous GBA1 carriers. OBJECTIVE: The aim of this study was to assess plasma glucosylsphingosine levels in GBA1 N370S...
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