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Lerche, Stefanie; Machetanz, Gerrit; Wurster, Isabel; Roeben, Benjamin; Zimmermann, Milan; Pilotto, Andrea; Preische, Oliver; Stransky, Elke; Deuschle, Christian; Hauser, Ann‐Kathrin; Schulte, Claudia; Lachmann, Ingolf; Waniek, Katharina; Gasser, Thomas; Berg, Daniela; Maetzler, Walter; Brockmann, Kathrin

Dementia with lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha‐synuclein profile

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  • Media type: E-Article
  • Title: Dementia with lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha‐synuclein profile
  • Contributor: Lerche, Stefanie; Machetanz, Gerrit; Wurster, Isabel; Roeben, Benjamin; Zimmermann, Milan; Pilotto, Andrea; Preische, Oliver; Stransky, Elke; Deuschle, Christian; Hauser, Ann‐Kathrin; Schulte, Claudia; Lachmann, Ingolf; Waniek, Katharina; Gasser, Thomas; Berg, Daniela; Maetzler, Walter; Brockmann, Kathrin
  • imprint: Wiley, 2019
  • Published in: Movement Disorders
  • Language: English
  • DOI: 10.1002/mds.27731
  • 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>Patients with dementia with Lewy bodies reveal a variable pathology including alpha‐synuclein, amyloid‐beta, and Tau. Mutations in <jats:italic>GBA1</jats:italic> are specifically associated with synucleinopathies. PD patients with <jats:italic>GBA1</jats:italic> mutations show reduced CSF levels of total alpha‐synuclein.</jats:p></jats:sec><jats:sec><jats:title>Objective</jats:title><jats:p>Whether <jats:italic>GBA1</jats:italic> mutations are associated with a CSF alpha‐synuclein profile in dementia with Lewy bodies.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Screening of the <jats:italic>GBA1</jats:italic> gene and single‐nucleotide polymorphisms in <jats:italic>SNCA</jats:italic> rs356220, <jats:italic>APOE</jats:italic> rs429358, and <jats:italic>MAPT</jats:italic> rs1052587 as well as CSF levels of total alpha‐synuclein, amyloid‐beta<jats:sub>1‐42</jats:sub>, total‐Tau, phospho‐Tau, and neurofilament light chain were assessed in 100 dementia with Lewy bodies and 39 controls cross‐sectionally.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Severity of <jats:italic>GBA1</jats:italic> mutations was associated with a younger age at onset and higher prevalence of rapid eye movement sleep behavior disorder. CSF levels of total alpha‐synuclein were lowest in DLB<jats:sub>GBA_pathogenic</jats:sub> compared to DLB<jats:sub>GBA_mild</jats:sub> and DLB<jats:sub>GBA_wildtype</jats:sub>.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Similar to PD, pathogenic <jats:italic>GBA1</jats:italic> mutations seem to be associated with CSF alpha‐synuclein profiles in dementia with Lewy bodies. That might be useful for patient stratification for specific alpha‐synuclein–lowering compounds. © 2019 International Parkinson and Movement Disorder Society</jats:p></jats:sec>