, Volume 5, Issue 4, pp 251-252
Date: 14 Oct 2004

Dementia with Lewy bodies: no association of polymorphisms in the human synphilin gene

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Dementia with Lewy bodies (DLB) may be responsible for one-fifth of dementia cases in the United Kingdom [1] and is the second commonest form of dementia after Alzheimer disease (AD). Whilst DLB shares a number of features with AD, it is identifiable as a distinct disease syndrome [1]. DLB patients pathologically show the presence of Lewy bodies (LB) in substantia nigra neurones linking it with Parkinson disease (PD), and evidence suggests a genetic basis for DLB based on twin and family studies [1]. Mutations in the α-synuclein ( SNCA) gene are known to cause autosomal dominant PD [2], suggesting that abnormalities in the metabolism of alpha-synuclein (α-syn) can cause LB formation. The protein synphilin has been shown to interact with α-syn and cells transfected with α-syn and synphilin yield cytoplasmic inclusions similar to LB [3]. Since processes that accelerate LB formation may underlie the genetic basis of both DLB and PD, we investigated this hypothesis by determining whet