Recent advances in the genetics of dementia with lewy bodies.
In the past few years, mutations have been identified in the genes encoding alpha-synuclein, leucine-rich repeat kinase 2, and glucocerebrosidase in some patients with dementia with Lewy bodies (DLB). Furthermore, a novel locus for familial DLB has been mapped to chromosome 2q35-q36. Collectively, these discoveries highlight a substantial overlap between the known genetic determinants of Parkinson's disease and DLB, as well as the presence of profound etiologic heterogeneity in Lewy body disorders.
Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, The Netherlands. v.bonifati@erasmusmc.nl
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Bonifati
D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D020961:Lewy Body Disease / Q000235:genetics*; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D051844:alpha-Synuclein / Q000235:genetics*
D051844:alpha-Synuclein; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005962:Glucosylceramidase