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Lerche, Stefanie; Wurster, Isabel; Roeben, Benjamin; Zimmermann, Milan; Riebenbauer, Benjamin; Deuschle, Christian; Hauser, Ann‐Kathrin; Schulte, Claudia; Berg, Daniela; Maetzler, Walter; Waniek, Katharina; Lachmann, Ingolf; Liepelt‐Scarfone, Inga; Gasser, Thomas; Brockmann, Kathrin

Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha‐Synuclein Profiles

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  • Media type: E-Article
  • Title: Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha‐Synuclein Profiles
  • Contributor: Lerche, Stefanie; Wurster, Isabel; Roeben, Benjamin; Zimmermann, Milan; Riebenbauer, Benjamin; Deuschle, Christian; Hauser, Ann‐Kathrin; Schulte, Claudia; Berg, Daniela; Maetzler, Walter; Waniek, Katharina; Lachmann, Ingolf; Liepelt‐Scarfone, Inga; Gasser, Thomas; Brockmann, Kathrin
  • imprint: Wiley, 2020
  • Published in: Movement Disorders
  • Language: English
  • DOI: 10.1002/mds.27884
  • ISSN: 0885-3185; 1531-8257
  • Keywords: Neurology (clinical) ; Neurology
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Mutations in the gene glucocerebrosidase (<jats:italic>GBA1</jats:italic>) are specifically associated with alpha‐synucleinopathies, namely, Parkinson's disease (PD) and dementia with Lewy bodies. As disease‐modifying treatment options such as alpha‐synuclein lowering compounds are under way, patient stratification according to alpha‐synuclein‐specific enrichment strategies, possibly reflected by cerebrospinal fluid (CSF) profiles, is a much needed prerequisite.</jats:p></jats:sec><jats:sec><jats:title>Objective</jats:title><jats:p>Are <jats:italic>GBA1</jats:italic> mutations associated with a CSF alpha‐synuclein profile in PD?</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Screening of the <jats:italic>GBA1</jats:italic> gene and analysis of CSF levels of total alpha‐synuclein were performed in 80 PD<jats:sub>GBA</jats:sub>, 80 PD<jats:sub>GBA</jats:sub>_<jats:sub>wildtype</jats:sub> and 39 healthy controls cross‐sectionally. Subgroup analyses based on mutation severity was done for PD<jats:sub>GBA</jats:sub>.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Patients carrying severe <jats:italic>GBA1</jats:italic> mutations showed (1) an earlier age at onset, (2) more pronounced cognitive decline and higher prevalence of rapid eye movement sleep behavior disorder, and (3) reduced CSF levels of total alpha‐synuclein.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>The effects of <jats:italic>GBA1</jats:italic> mutations on CSF alpha‐synuclein profiles and phenotypical characteristics seem dependent on <jats:italic>GBA1</jats:italic> mutation severity. © 2019 International Parkinson and Movement Disorder Society</jats:p></jats:sec>