Familial Lewy body diseases.
Lewy body disease includes clinically and pathologically defined disorders in which Lewy bodies occur in the nervous system. In recent years, the molecular features of these disorders have been emerging. Several genetic loci have been identified in association with familial Lewy body disease; however, the genetic risks underlying most cases of familial Lewy body disease remain to be discovered. The fact that Lewy bodies stain strongly with antibodies to asynuclein and that mutations in the alpha-synuclein gene lead to syndromes in which parkinsonism and dementia occur gives us important clues regarding the biologic processes leading to disease. Pursuit of additional mendelian causes of familial Lewy body disease and study of the factors contributing to the complex phenotypes associated with Lewy body disorders will elucidate underlying disease pathways and, thus, possible targets for therapeutic intervention.
Gwinn-Hardy
Katrina
K
Division of Intramural Research, Neurogenetics Laboratories, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.
Singleton
Amanda Adam
AA
D000368:Aged; D001921:Brain / Q000473:pathology*; D002894:Chromosomes, Human, Pair 4; D020022:Genetic Predisposition to Disease; D006801:Humans; D016631:Lewy Bodies / Q000473:pathology*; D020961:Lewy Body Disease / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000032:analysis / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000235:genetics*; D051843:Synucleins; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein