Multiplication of the α-synuclein gene is not a common disease mechanism in Lewy body disease

Paul J. Lockhart, Jennifer Kachergus, Sarah Lincoln, Mary Hulihan, Gina Bisceglio, Natalie Thomas, Dennis Dickson, Matthew J. Farrer

Research output: Contribution to journalArticle

10 Scopus citations

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 α-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 α -synuclein gene, suggesting that this mechanism is not a common cause of LBD.

Original languageEnglish (US)
Pages (from-to)337-341
Number of pages5
JournalJournal of Molecular Neuroscience
Volume24
Issue number3
DOIs
StatePublished - Nov 1 2004

Keywords

  • Genomic multiplication
  • Lewy body disease
  • α-Synuclein

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience

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    Lockhart, P. J., Kachergus, J., Lincoln, S., Hulihan, M., Bisceglio, G., Thomas, N., Dickson, D., & Farrer, M. J. (2004). Multiplication of the α-synuclein gene is not a common disease mechanism in Lewy body disease. Journal of Molecular Neuroscience, 24(3), 337-341. https://doi.org/10.1385/JMN:24:3:337