Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease.
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.
Lockhart
Paul J
PJ
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Kachergus
Jennifer
J
Lincoln
Sarah
S
Hulihan
Mary
M
Bisceglio
Gina
G
Thomas
Natalie
N
Dickson
Dennis
D
Farrer
Matthew J
MJ
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
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein