title: Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease.
abstract: Lewy body disease (LBD) refers to a heterogeneous group of disorders presenting with parkinsonism and Lewy body (LB) formation. Although the relationship between dementing syndromes with LBs, Parkinson's disease, and Alzheimer's disease is unclear, the former constitute a common form of degenerative dementia and may account for up to 20% of cases in the elderly. We recently demonstrated triplication of the alpha-synuclein gene as the cause of disease in the Spellman-Muenter kindred. Neuropathological examination of affected members of the kindred demonstrated extensive LB pathology consistent with diffuse LBD. We examined a large collection of pathologically confirmed LBD cases and found no evidence for multiplication of the alpha-synuclein gene, suggesting that this mechanism is not a common cause of LBD.
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Lockhart
authors.forename: Jennifer
authors.initials: J
authors.lastname: Kachergus
authors.forename: Sarah
authors.initials: S
authors.lastname: Lincoln
authors.forename: Mary
authors.initials: M
authors.lastname: Hulihan
authors.forename: Gina
authors.initials: G
authors.lastname: Bisceglio
authors.forename: Natalie
authors.initials: N
authors.lastname: Thomas
authors.forename: Dennis
authors.initials: D
authors.lastname: Dickson
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Farrer
mesh_terms: D000368:Aged; D001921:Brain / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D001923:Brain Chemistry / Q000235:genetics*; D018628:Gene Dosage; D042822:Genomic Instability / Q000235:genetics; D006801:Humans; D016631:Lewy Bodies / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D020961:Lewy Body Disease / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D051843:Synucleins; D051844:alpha-Synuclein
chemical_list: D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein