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.
Bonifati
Vincenzo
V
Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, The Netherlands. v.bonifati@erasmusmc.nl
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