Cognitive deficits in familial Alzheimer's disease associated with M239V mutation of presenilin 2

Anna Rita Giovagnoli, Gabriella Marcon, Giorgio Giaccone, Anna Maria Confaloni, Fabrizio Tagliavini

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)238-243
Number of pages6
JournalDementia and Geriatric Cognitive Disorders
Issue number3
Publication statusPublished - Aug 2006


  • Familial Alzheimer's disease
  • Presenilin 2
  • Subclinical cognitive deficits
  • Visuospatial impairment

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Geriatrics and Gerontology


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