Abstract. How "old" and "attractive" an individual appears has increasingly become an individual concern leading to the utilisation of various cosmetic surgical procedures aimed at enhancing appearance. Using eyetracking, in the present study we aimed to investigate how individuals perceive age and attractiveness of younger and older faces and what "bottom-up" facial cues are used in this process. One hundred and twenty eight digital images of neutral faces of ages ranging from 20 to 89 years were paired and presented to subjects who judged age and attractiveness levels while having their eye movements recorded. There was an effect of face attractiveness on age-rating accuracy, with attractive faces being rated younger than their true age. Similarly, stimulus age affected attractiveness ratings, with younger faces being perceived as more attractive. Judgments of age and attractiveness were tightly linked to fixations on the eye region, along with the nose and mouth. It is thus likely that cosmetic surgical procedures targeted at the eyes, nose, and mouth may be most efficacious at enhancing one's physical appearance.

different methods can yield divergent results. In order to assess for prominent gene networks underlying memory impairment in MCI and AD, we compared the results from two pathway enrichment analyses of a quantitative memory phenotype. Methods: Data were obtained for 742 participants from the Alzheimer's Disease Neuroimaging Intiative (ADNI) database (http://adni.loni.ucla.edu/). A composite, psychometrically-optimized episodic memory score was generated using item-level data from the ADNI neuropsychological test battery. We performed pathway analysis of genome-wide association data for this phenotype using 1) set-based enrichment for KEGG and REACTOME pathways in GSA-SNP and 2) rank-based enrichment for GeneGO pathways in MetaCore. For both analyses, genetic markers in high linkage disequilibrium (r 2 > 0.8) were removed in advance and the False Discovery Rate (FDR) was used to correct for pathway-level multiple comparisons. Results: A total of 39 pathways were enriched against memory impairment (FDR-corrected P < 0.05) using the two analytic approaches (Table). Importantly, these results were achieved despite the absence of association of any single genetic marker at genome-wide significance. While employing different pathway definitions and statistical metrics, the enrichment results reflected common realms of biology. In particular, gene networks related to long-term potentiation and depression, neurotransmission, calcium-mediated signaling, kinase activation and signaling, axon guidance and outgrowth, and cell adhesion were prominent among the enriched pathways in this study. Conclusions: These results 1) provide prime targets for future studies of memory impairment, 2) demonstrate the value of pathway analysis in detecting gene sets relevant in complex phenotypes, and 3) suggest that legitimately-associated gene networks can be identified through systematic application of multiple pathway analytic strategies. Taken together, our findings endorse a model for AD-related memory impairment that includes genetic susceptibility pathways and disease neuropathology (Figure). Extension of this model using independent AD and non-AD data sets will provide further clarity.Background: Frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) are two extremes of the same disease spectrum. Most notable genetic evidence for this link came from the recent identification of G 4 C 2 repeat expansions in the promoter of C9orf72 as the most common cause of ALS and together with GRN and MAPT the third major gene for FTLD. Moreover, in FTLD-ALS C9orf72 is the first causal gene explaining the major part of familial FTLD-ALS. In brain, C9orf72 expression was significantly reduced by 50%. Different possible disease mechanisms were proposed including haploinsufficiency and RNA toxicity, and genotype-phenotype correlation studies are initiated. However, very little is known about the mutation spectrum, the genomic mechanism by which the C9orf72 G 4 C 2 repeat is expanding and the impact of repeat length on diseas...