title: Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study.
abstract: The clinical, neuropsychological and neuropathological features of a patient with early-onset Alzheimer's disease as a result of the M139V presenilin-1 (PSEN-1) mutation are presented, and compared with previous reports of patients with the same mutation. Similarities, such as the age at onset and the relative preservation of naming skills, and differences, such as the significant basal ganglia, thalamic and cerebellar pathology, are noted. This clinical and pathological heterogeneity in patients with the same PSEN-1 mutation suggests phenotype modulation by genetic and/or epigenetic factors.
authors.affiliation: Walton Centre for Neurology and Neurosurgery, Lower Lane, Fazakerley, Liverpool, UK. a.larner@thewaltoncentre.nhs.uk
authors.forename: A J
authors.initials: AJ
authors.lastname: Larner
authors.forename: D G
authors.initials: DG
authors.lastname: du Plessis
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics* / Q000503:physiopathology*; D002525:Cerebellar Cortex / Q000378:metabolism / Q000473:pathology; D002540:Cerebral Cortex / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D053764:Presenilin-1; D013788:Thalamus / Q000378:metabolism / Q000473:pathology; D014633:Valine / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D008715:Methionine; D014633:Valine