title: Missense substitutions associated with behavioural disturbances in Alzheimer's disease (AD).
abstract: Behavioural and psychological symptoms in dementia, or BPSD, occur in the majority of Alzheimer's disease (AD) patients. They are associated with considerable patient morbidity and greater care-giver stress. There is some evidence suggesting that BPSD have a genetic component and a large number of studies have examined the association of candidate genes with these symptoms. This review provides a comprehensive summary of all the published studies investigating the association of candidate gene missense substitutions with BPSD. Missense substitutions could potentially alter protein function or render the protein non-functional, resulting in phenotypic consequences. More than 80 studies investigating the association of 8 missense substitutions in 7 genes with BPSD were identified. However, results of these studies are contradictory and do not provide firm support for these associations. Larger studies and more systematic approaches will delineate the association of missense substitutions with behavioural symptoms in AD.
authors.affiliation: King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, London SE5 8AF, UK. petroula.proitsi@kcl.ac.uk
authors.forename: Petroula
authors.initials: P
authors.lastname: Proitsi
authors.forename: John F
authors.initials: JF
authors.lastname: Powell
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics* / Q000401:mortality / Q000523:psychology; D019943:Amino Acid Substitution / Q000235:genetics*; D006801:Humans; D001523:Mental Disorders / Q000235:genetics* / Q000523:psychology; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D012307:Risk Factors; D013315:Stress, Psychological / Q000235:genetics