title: Association between the presenilin-1 mutation Glu318Gly and complaints of memory impairment.
abstract: Presenilin-1 mutations account for nearly 50% of all early-onset familial cases of Alzheimer's disease. Most of these mutations are completely penetrant, although the recently described Glu318Gly substitution seems to have only partial penetrance. These findings suggest that the Glu318Gly mutation may work as a genetic risk factor for Alzheimer's disease. We designed the present study to investigate the frequency of this mutation among non-demented volunteers with subjective memory impairment (n = 58) and controls (n = 66). Four (6.8%) subjects with complaints of memory problems, but no controls, carried this mutation. The presence of the Glu318Gly mutation was associated with significantly lower cognitive performance when compared to controls (P = 0.011). However, there was no significant association between the presence of the mutation and the cognitive performance of individuals within the memory complainers group. Follow-up studies should clarify whether the Glu318Gly mutation increases the risk of cognitive decline in later life.
authors.affiliation: Sir James McCusker Alzheimer's Disease Research Unit and University of Western Australia.
authors.forename: Simon M
authors.initials: SM
authors.lastname: Laws
authors.forename: Roger M
authors.initials: RM
authors.lastname: Clarnette
authors.forename: Kevin
authors.initials: K
authors.lastname: Taddei
authors.forename: Georgia
authors.initials: G
authors.lastname: Martins
authors.forename: Athena
authors.initials: A
authors.lastname: Paton
authors.forename: Osvaldo P
authors.initials: OP
authors.lastname: Almeida
authors.forename: Hans
authors.initials: H
authors.lastname: Förstl
authors.forename: Ralph N
authors.initials: RN
authors.lastname: Martins
mesh_terms: D000328:Adult; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics / Q000523:psychology; D019943:Amino Acid Substitution; D001057:Apolipoproteins E / Q000235:genetics; D003071:Cognition / Q000502:physiology; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008569:Memory Disorders / Q000235:genetics* / Q000523:psychology*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009483:Neuropsychological Tests; D053764:Presenilin-1
chemical_list: D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1