The Genetics of Disorders with Synuclein Pathology and Parkinsonism
Identifieur interne : 001571 ( Main/Corpus ); précédent : 001570; suivant : 001572The Genetics of Disorders with Synuclein Pathology and Parkinsonism
Auteurs : Matt Farrer ; Katrina Gwinn-Hardy ; Mike Hutton ; John HardySource :
- Human Molecular Genetics [ 0964-6906 ] ; 1999.
Abstract
Despite being considered the archetypal non-genetic neurological disorder, genetic analysis of Parkinson's disease has shown that there are at least three genetic loci. Furthermore, these analyses have suggested that the phenotype of the pathogenic loci is wider than simple Parkinson's disease and may include Lewy body dementia and some forms of essential tremor. Identification of α-synuclein as the first of the loci involved in Parkinson's disease and the identification of this protein in pathological deposits in other disorders has led to the suggestion that it may share pathogenic mechanisms with multiple system atrophy, Alzheimer's disease and prion disease and that these mechanisms are related to a synuclein pathway to cell death. Finally, genetic analysis of the synuclein diseases and the tau diseases may indicate that this synuclein pathway is an alternative to the tau pathway to cell death.
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DOI: 10.1093/hmg/8.10.1901
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Furthermore, these analyses have suggested that the phenotype of the pathogenic loci is wider than simple Parkinson's disease and may include Lewy body dementia and some forms of essential tremor. Identification of α-synuclein as the first of the loci involved in Parkinson's disease and the identification of this protein in pathological deposits in other disorders has led to the suggestion that it may share pathogenic mechanisms with multiple system atrophy, Alzheimer's disease and prion disease and that these mechanisms are related to a synuclein pathway to cell death. 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Tel: +1 904 953 7356; Fax: +1 904 953 7370; Email: <email>hardy.john@mayo.edu</email></corresp></author-notes><pub-date pub-type="ppub"><year>1999</year></pub-date><volume>8</volume><issue>10</issue><fpage>1901</fpage><lpage>1905</lpage><history><date date-type="received"><day>26</day><month>5</month><year>1999</year></date><date date-type="accepted"><day>1</day><month>6</month><year>1999</year></date></history><copyright-statement>© 1999 Oxford University Press</copyright-statement><copyright-year>1999</copyright-year><abstract><p>Despite being considered the archetypal non-genetic neurological disorder, genetic analysis of Parkinson's disease has shown that there are at least three genetic loci. Furthermore, these analyses have suggested that the phenotype of the pathogenic loci is wider than simple Parkinson's disease and may include Lewy body dementia and some forms of essential tremor. Identification of α-synuclein as the first of the loci involved in Parkinson's disease and the identification of this protein in pathological deposits in other disorders has led to the suggestion that it may share pathogenic mechanisms with multiple system atrophy, Alzheimer's disease and prion disease and that these mechanisms are related to a synuclein pathway to cell death. 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