{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lau HHC"],"funding":["NIA NIH HHS","Parkinson Society Canada","National Institute on Aging","Canadian Institutes of Health Research"],"pagination":["72"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10155462"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11(1)"],"pubmed_abstract":["Unique strains of α-synuclein aggregates have been postulated to underlie the spectrum of clinical and pathological presentations seen across the synucleinopathies. Whereas multiple system atrophy (MSA) is associated with a predominance of oligodendroglial α-synuclein inclusions, α-synuclein aggregates in Parkinson's disease (PD) preferentially accumulate in neurons. The G51D mutation in the SNCA gene encoding α-synuclein causes an aggressive, early-onset form of PD that exhibits clinical and neuropathological traits reminiscent of both PD and MSA. To assess the strain characteristics of G51D PD α-synuclein aggregates, we performed propagation studies in M83 transgenic mice by intracerebrally inoculating patient brain extracts. The properties of the induced α-synuclein aggregates in the br"],"journal":["Acta neuropathologica communications"],"pubmed_title":["The G51D SNCA mutation generates a slowly progressive α-synuclein strain in early-onset Parkinson's disease."],"pmcid":["PMC10155462"],"funding_grant_id":["2016-924","P30AG062421","PJT-169042"],"pubmed_authors":["Lau HHC","Stuart E","Mao A","Hyman BT","Mehra S","Martinez-Valbuena I","Schmitt-Ulms C","Watts JC","So RWL","Kovacs GG","Ingelsson M","Silver NRG"],"additional_accession":[]},"is_claimable":false,"name":"The G51D SNCA mutation generates a slowly progressive α-synuclein strain in early-onset Parkinson's disease.","description":"Unique strains of α-synuclein aggregates have been postulated to underlie the spectrum of clinical and pathological presentations seen across the synucleinopathies. Whereas multiple system atrophy (MSA) is associated with a predominance of oligodendroglial α-synuclein inclusions, α-synuclein aggregates in Parkinson's disease (PD) preferentially accumulate in neurons. The G51D mutation in the SNCA gene encoding α-synuclein causes an aggressive, early-onset form of PD that exhibits clinical and neuropathological traits reminiscent of both PD and MSA. To assess the strain characteristics of G51D PD α-synuclein aggregates, we performed propagation studies in M83 transgenic mice by intracerebrally inoculating patient brain extracts. The properties of the induced α-synuclein aggregates in the br","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 May","modification":"2025-04-22T04:09:27.229Z","creation":"2025-04-05T20:52:58.146Z"},"accession":"S-EPMC10155462","cross_references":{"pubmed":["37138318"],"doi":["10.1186/s40478-023-01570-5"]}}