Genomic triplication of the α synuclein gene (SNCA) has been reported to cau se hereditary early onset parkinsonism with dementia. These findings prompted u s to screen for multiplication of the SNCA locus in nine fa...Genomic triplication of the α synuclein gene (SNCA) has been reported to cau se hereditary early onset parkinsonism with dementia. These findings prompted u s to screen for multiplication of the SNCA locus in nine families in whom parkin sonism segregates as an autosomal dominant trait. One kindred was identified wit h SNCA duplication by semiquantitative PCR and confirmed by fluorescent in situ hybridisation analysis in peripheral leucocytes. By contrast with SNCA triplica tion families, the clinical phenotype of SNCA duplication closely resembles idio pathic Parkinsons disease, which has a late age of onset, progresses slowly, and in which neither cognitive decline nor dementia are prominent. These findin gs suggest a direct relation between SNCA gene dosage and disease progression.展开更多
文摘Genomic triplication of the α synuclein gene (SNCA) has been reported to cau se hereditary early onset parkinsonism with dementia. These findings prompted u s to screen for multiplication of the SNCA locus in nine families in whom parkin sonism segregates as an autosomal dominant trait. One kindred was identified wit h SNCA duplication by semiquantitative PCR and confirmed by fluorescent in situ hybridisation analysis in peripheral leucocytes. By contrast with SNCA triplica tion families, the clinical phenotype of SNCA duplication closely resembles idio pathic Parkinsons disease, which has a late age of onset, progresses slowly, and in which neither cognitive decline nor dementia are prominent. These findin gs suggest a direct relation between SNCA gene dosage and disease progression.
