Case Report: Depression vs. Early-Onset Alzheimer Disease: The Genetic Counselor's Role

Awareness of depression in the differential diagnosis of Alzheimer disease is essential for genetic counselors seeing patients at risk for early-onset familial Alzheimer disease (EOFAD). The genetic counselor is in a unique position to recognize depression as the cause of symptoms mimicking early-onset Alzheimer disease. While generating a family medical history, the counselor can evoke significant emotional history as well. Based on this information, appropriate referrals can be given for neurological and psychological evaluation. The counselor also serves to explain EOFAD and the benefits and limitations of genetic testing for each individual patient. Whether or not patients choose testing, they can benefit from correct diagnosis of troublesome, or even debilitating, symptoms that imitate symptoms of the feared hereditary disease.     

Genetics of emotion

Emotion is critical to most aspects of human behavior, and individual differences in systems recruited to process emotional stimuli, expressed as variation in emotionality, are characteristic of several neuropsychiatric disorders. We examine the genetic origins of individual differences in emotion processing by focusing on functional variants at five genes: catechol-O-methyltransferase (COMT), serotonin transporter (SLC6A4), neuropeptide Y (NPY), a glucocorticoid receptor-regulating co-chaperone of stress proteins (FKBP5) and pituitary adenylate cyclase-activating polypeptide receptor (ADCYAP1R1). These represent a range of effects of genes on emotion as well as the variety of mechanisms and factors, such as stress, that modify these effects. The new genomic era of genome-wide association studies (GWAS) and deep sequencing may yield a wealth of new loci modulating emotion. The effects of these genes can be validated by neuroimaging, neuroendocrine and other studies accessing intermediate phenotypes, deepening our understanding of mechanisms of emotion and variation in emotionality.     

What do you mean "drunk"? Convergent validation of multiple methods of mapping alcohol expectancy memory networks

The configuration and activation of memory networks have been theorized as mechanisms that underlie the often observed link between alcohol expectancies and drinking. A key component of this network is the expectancy "drunk." The memory network configuration of "drunk" was mapped by using cluster analysis of data gathered from the paired-similarities task (PST) and the Alcohol Expectancy Multi-Axial Assessment (AEMAX). A third task, the free associates task (FA), assessed participants' strongest alcohol expectancy associates and was used as a validity check for the cluster analyses. Six hundred forty-seven 18-19-year-olds completed these measures and a measure of alcohol consumption at baseline assessment for a 5-year longitudinal study. For both the PST and AEMAX, "drunk" clustered with mainly negative and sedating effects (e.g., "sick," "dizzy," "sleepy") in lighter drinkers and with more positive and arousing effects (e.g., "happy," "horny," "outgoing") in heavier drinkers, showing that the cognitive organization of expectancies reflected drinker type (and might influence the choice to drink). Consistent with the cluster analyses, in participants who gave "drunk" as an FA response, heavier drinkers rated the word as more positive and arousing than lighter drinkers. Additionally, gender did not account for the observed drinker-type differences. These results support the notion that for some emerging adults, drinking may be linked to what they mean by the word "drunk." (PsycINFO Database Record (c) 2012 APA, all rights reserved).