Dementia with Lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha-synuclein profile
Movement Disorders Jun 19, 2019
Lerche S, et al. - In dementia with Lewy bodies, researchers ascertained if GBA1 mutations were correlated with a CSF alpha-synuclein profile. In 100 dementia with Lewy bodies patients and 39 controls, screening of the GBA1 gene and single-nucleotide polymorphisms in SNCA rs356220, APOE rs429358, and MAPT rs1052587, as well as CSF levels of total alpha-synuclein, amyloid-beta1-42, total-tau, phospho-tau, and neurofilament light chain were evaluated cross-sectionally. A younger age at onset and higher prevalence of rapid eye movement sleep behavior disorder correlated with the severity of GBA1 mutations. Compared with DLBGBA_mild and DLBGBA_wildtype, CSF levels of total alpha-synuclein were lowest in DLBGBA_pathogenic. Similar to Parkinson’s disease, pathogenic GBA1 mutations in dementia with Lewy bodies appear to be related to CSF alpha-synuclein profiles. For specific alpha-synuclein–lowering compounds, this could be useful for patient stratification.
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