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[P1–350]: AWARENESS OF MUTATION STATUS IN PERSONS AT RISK FOR FAMILIAL ALZHEIMER's DISEASE
Author(s) -
Liu Serena,
Medina Luis,
Coppola Giovanni,
Ringman John M.
Publication year - 2017
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2017.06.366
Subject(s) - psen1 , dementia , presenilin , disease , medicine , mutation , family history , alzheimer's disease , gerontology , pediatrics , psychiatry , genetics , gene , biology
Background: The ALFA cohort includes almost 3,000 normal cognitive middle age participants with increased risk of AD (30% APOE-ε3/ε4 and over 3% APOE-ε4/ε4). The aims of this study are to describe the cognitive performance in subjective cognitive decline (SCD) and SCD plus participants, to investigate SCD plus features related with worse performance and to investigate structural imaging correlates. Methods:SCD and SCD plus criteria were defined according to consensus criteria. SCD plus participants presented at least 4 out of the 6 available features collected in the ALFA cohort. Cognitive performance, both episodic memory (measured by means the Memory Binding Test) and executive and reasoning functions (assessed by WAIS-IV subtests) was compared among SCD, SCD plus groups and an age and education matched sample of control participants. Structural MRI was performed in a subsample of participants. Results:642 subjects of the 2743 cognitively characterized participants reported SCD. Within those, 220 participants present the APOE-ε4 genotype, 159 have confirmation of perceived cognitive decline by an informant and 327 express concerns enough to seek for medical attention. Within subjects with concerns 232 have an onset of SCD between 6months and 5 years before assessment and 53 have an onset of SCD >60 years old. 150 subjects meet at least 4 of these criteria (SCD plus group). Preliminary analysis showed that both SCD and SCD plus groups presented lower cognitive performance. When SCD plus participants were compared to those that only present SCD (but none of the other SCD plus criteria, n1⁄4160), we found a significantly lower performance in theMBT delayed free recall. Independent analysis of the SCD plus features showed that confirmation of SCD by an informant seems to be the feature most related with worse performance. Structural imaging signatures of SCD and SCD plus together with the imaging correlates of these results will also be presented. Conclusions: In a population-based cohort SCD and SCD plus criteria are related with worse cognitive performance. Confirmation by an informant seems to be the most important SCD plus feature. We hypothesize that structural imaging features will support these findings.

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