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Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications.

著者 Farrer M , Kachergus J , Forno L , Lincoln S , Wang DS , Hulihan M , Maraganore D , Gwinn-Hardy K , Wszolek Z , Dickson D , Langston JW
Ann Neurol.2004 Feb ; 55(2):174-9.
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MalaCards for parkinson disease 4, autosomal dominant

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Genomic triplication of the alpha-synuclein gene recently has been associated with familial Parkinson's disease in the Spellman-Muenter kindred. Here, we present an independent family, of Swedish-American descent, with hereditary early-onset parkinsonism with dementia due to alpha-synuclein triplication. Brain tissue available from affected individuals in both kindreds provided the opportunity to compare their clinical, pathological, and biochemical phenotypes. Of note, studies of brain mRNA and soluble protein levels demonstrate a doubling of alpha-synuclein expression, consistent with molecular genetic data. Pathologically, cornu ammonis 2/3 hippocampal neuronal loss appears to be a defining feature of this form of inherited parkinsonism. The profound implications of alpha-synuclein overexpression for idiopathic synucleinopathies are discussed.
PMID: 14755720 [PubMed - indexed for MEDLINE]
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