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Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease.
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.
Afiliación
  • Surface M; Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
  • Balwani M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Waters C; Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
  • Haimovich A; Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
  • Gan-Or Z; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
  • Marder KS; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
  • Hsieh T; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Song L; Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
  • Padmanabhan S; Nextcea, Inc., Woburn, Massachusetts, USA.
  • Hsieh F; Nextcea, Inc., Woburn, Massachusetts, USA.
  • Merchant KM; The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA.
  • Alcalay RN; Nextcea, Inc., Woburn, Massachusetts, USA.
Mov Disord ; 37(2): 416-421, 2022 02.
Article en En | MEDLINE | ID: mdl-34741486
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 carriers with and without PD. METHODS: Glucosylsphingosine, glucosylceramide, and four other lipids were quantified in plasma from N370S heterozygotes with (n = 20) or without (n = 20) PD, healthy controls (n = 20), idiopathic PD (n = 20), and four N370S homozygotes (positive controls; Gaucher's/PD) using quantitative ultra-performance liquid chromatography tandem mass spectrometry. RESULTS: Plasma glucosylsphingosine was significantly higher in N370S heterozygotes compared with noncarriers, independent of disease status. As expected, Gaucher's/PD cases showed increases in both glucocerebrosidase substrates, glucosylsphingosine and glucosylceramide. CONCLUSIONS: Plasma glucosylsphingosine accumulation in N370S heterozygotes shown in this study opens up its future assessment as a clinically meaningful biomarker of GBA1-PD. © 2021 International Parkinson and Movement Disorder Society.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Enfermedad de Gaucher Límite: Humans Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Enfermedad de Gaucher Límite: Humans Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos