title: Cognitive deficits in familial Alzheimer's disease associated with M239V mutation of presenilin 2.
abstract: The neuropsychological assessment of non-demented subjects with gene mutation of familial Alzheimer's disease (AD) provides a model for exploring the early cognitive features of the disease. We evaluated 1 patient and 6 non-demented subjects belonging to a family with AD with M239V mutation of the presenilin 2 gene, aiming to verify the contribution of specific cognitive patterns to the characterization of familial AD. One patient, 3 non-demented subjects with M239V mutation and 3 subjects without mutation from the same family underwent neuropsychological testing. The patient's cognitive profile was characterized by anosognosia, visuospatial agnosia, apraxia and fluent aphasia. Of the 3 non-demented subjects with mutation, 1 showed no deficits, another constructive apraxia and the third spatial perception and memory deficits. The 3 subjects without mutation showed normal abilities. The cognitive deficits of the non-demented subjects with mutations indicate focal dysfunction of the posterior cortical areas, resembling the more extended parieto-occipito-temporal dysfunction of the demented patient. Such grading of visuospatial, praxis, and language impairments highlights a distinctive pattern related to the M239V mutation of the presenilin 2 gene.
authors.affiliation: Division of Neuropathology and Neurology, Carlo Besta National Neurological Institute, Milan, Italy. rgiovagnoli@istituto-besta.it
authors.forename: Anna Rita
authors.initials: AR
authors.lastname: Giovagnoli
authors.forename: Gabriella
authors.initials: G
authors.lastname: Marcon
authors.forename: Giorgio
authors.initials: G
authors.lastname: Giaccone
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Confaloni
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Tagliavini
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000523:psychology*; D003072:Cognition Disorders / Q000000981:diagnostic imaging / Q000235:genetics* / Q000523:psychology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000502:physiology*; D009483:Neuropsychological Tests; D010375:Pedigree; D049268:Positron-Emission Tomography; D053766:Presenilin-2; D011597:Psychomotor Performance / Q000502:physiology
chemical_list: D008565:Membrane Proteins; C508861:PSEN2 protein, human; D053766:Presenilin-2