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Background/Aims: Mutations in the amyloid precursor protein gene were the first to be recognized as a cause of Alzheimer’s disease (AD). Methods: We describe 2 Italian families showing the missense mutation in exon 17 of the amyloid precursor protein gene on chromosome 21 (Val717Ile), known as London mutation. Results: In 1 family, this mutation was responsible for AD in 3 out of 7 siblings and it is also present in a fourth sibling who has only shown signs of executive dysfunction so far. Two subjects of the other family with AD diagnosis were carriers of the same mutation. Conclusion: All AD subjects showed a cognitive profile characterized by early impairment in long-term memory, shifting abilities and affective symptoms beginning in the fifth decade of life. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

We investigated if monthly gadolinium (Gd)-enhanced magnetic resonance imaging (MRI) can assist the clinician in anticipating the diagnosis of multiple sclerosis (MS) in the very first few months following a clinically isolated syndrome (CIS). A consecutive series of CIS patients with ≥3 T2-weighted (T2W) hyperintense brain MRI lesions suggestive of MS were followed up for the first six consecutive months after enrollment with monthly triple-dose Gd-enhanced brain MRI scan. MRI conversion to MS was defined by the presence of either ≥1 new Gd-enhancing lesion or ≥1 new T2W lesions in the subsequent MRI scan. Sixty patients were included. Of them, 30 (50%) had at least one Gd-enhancing lesion on the baseline MRI scan. After three months, MRI conversion to MS was observed in 80% and 62% of patients based on the appearance of ≥1 new T2 lesion and ≥1 new Gd-enhancing lesions, respectively. The presence of ≥1 new T2W lesion was observed in 90% and 82% of patients who had, at baseline, a Gd-positive MRI scan and dissemination in space based on the new McDonald's criteria, respectively. The rate of MRI conversion remained almost stable in the last two MRI scans. Our study suggests that the majority of CIS patients with an abnormal baseline scan showed an MRI conversion to MS after three months. The model of six months as the optimal interval for repeating MRI exam is not supported by the present data. [ABSTRACT FROM AUTHOR]

We investigated the relationship between emotional changes, brain lesion burden and development of multiple sclerosis (MS). Thirty-seven consecutive patients with clinically isolated syndrome (CIS) were prospectively assessed with the Expanded Disability Status Scale (EDSS), the 21-item Beck Depression Inventory (BDI), the State-Trait Anxiety Inventory (STAI) and gadolinium enhanced (Gd+) MRI scans. BDI and STAI were also administered to 36 age-matched controls. Conversion to MS was defined as the occurrence of a clinical relapse. CIS patients were more likely to endorse symptoms of anxiety and depression than controls. Baseline scores for depression and anxiety did not correlate with the total lesion load (i.e., volume of Gd+, T2 and T1 lesions) and the number of Gd+ lesions during the first six months of follow-up. A positive correlation was found between severity of depressive scores and the lesion load in the right temporal region (P=0.005). After 33±6 months of the study entry, patients who had a clinical relapse were more frequently depressed (P=0.001) than those relapse free. Emotional disturbances are frequently observed in CIS patients and show a tendency towards a normalization in relapse-free patients. The increased rate of depressive symptoms observed in patients who developed MS seems to result from a combination of psychological and organic features. The lesion load in the right temporal region is confirmed as a key area for developing depressive symptoms, even in the early phase of the disease. [ABSTRACT FROM AUTHOR]

This study measured the relationship between pial collateral (leptomeningeal anastomoses, LMA) flow, intraparenchymal cortical cerebral blood flow (cCBF) and brain tissue oxygenation (btO2) during acute ischemic stroke to investigate how pial flow translates to downstream cCBF and btO2 and examined how this relationship is altered in hypertension. Proximal transient middle cerebral artery occlusion (tMCAO) was performed in male Wistar (n = 8/group) and Spontaneously Hypertensive Rats (SHR, n = 8/group). A combination laser Doppler-oxygen probe was placed within the expected cortical peri-infarct in addition to a surface laser doppler probe which measured LMA flow. Phenylephrine (PE) was infused 30 minutes into tMCAO to increase blood pressure (BP) by 30% for 10 minutes and assessed CBF autoregulation. During the initial 30-minute period of tMCAO, btO2 and cCBF were lower in SHR compared to Wistar rats (btO2: 11.5 ± 10.5 vs 17.5 ± 10.8 mmHg and cCBF: −29.7 ± 23.3% vs −17.8 ± 41.9%); however, LMA flow was similar between groups. The relationship between LMA flow, cCBF and btO2 were interdependent in Wistar rats. However, this relationship was disrupted in SHR rats and partially restored by induced hypertension. This study provides evidence that cCBF and btO2 were diminished during tMCAO in chronic hypertension, and that induced hypertension was beneficial regardless of hypertensive status. [ABSTRACT FROM AUTHOR]

Engaging with art can move individuals through a myriad of emotions, provoke reflective thoughts, and lead to new ideas. Could art also influence interpersonal outcomes pertaining to the ways we interact with others and navigate the social world, that is, our suite of social cognitive skills? Here, we focus on visual art to explore the effect of art engagement on personal aesthetic experience and social cognitive skills. Across two studies, using veridical paintings and matched non-art photos, we examined the effect of art engagement on emotional (e.g., awe, being moved) and eudaimonic experiences (e.g., reflective thoughts), as well as social cognitive skills pertaining to Theory of Mind (ToM) and recognition of other's emotions. Further, we varied the depth with which participants engaged with the experiences of the characters in the artworks, to assess whether deep social information processing could boost the effect of art engagement on social cognitive skills. Our findings showed that art engagement altered personal aesthetic experience through changes in emotional and eudaimonic outcomes. However, we did not find any support for the effect of art engagement on social cognitive skills: Neither engaging with art, nor art in combination with deep social information processing, influenced performance on social cognitive skills of ToM and emotion recognition. The effect of art engagement on personal aesthetic experience and the absence of effect on social cognitive skills highlight the nuanced nature of individuals' interactions with art. We discuss these results considering the varied ways of engagement with different artforms and in relation to different operationalizations of social cognitive skills. [ABSTRACT FROM AUTHOR]

Facial occlusion alters social processes that rely on face visibility, including spontaneous mimicry of emotions. Given that facial mimicry of emotions is theorized to play an important role in how we empathize or share emotions with others, here we investigated if empathy was reduced for faces wearing masks because masks may reduce the ability to mimic facial expressions. In two preregistered experiments, participants rated their empathy for faces displaying happy or neutral emotions and wearing masks or no masks. We manipulated mimicry by either blocking mimicry with observers holding a pen in between their teeth (Experiment 1) or by producing a state of constant congruent mimicry by instructing observers to smile (Experiment 2). Results showed reduced empathy ratings for masked faces. Mimicry overall facilitated empathy, with reduced empathy ratings when mimicry was blocked and higher empathy ratings when it was instructed. However, this effect of mimicry did not vary with mask condition. Thus, while observers were impaired in sharing emotions with masked faces, this impairment did not seem to be explained by a reduction in facial mimicry. These results show that mimicry is an important process for sharing emotions, but that occluding faces with masks reduces emotion sharing via a different mechanism. [ABSTRACT FROM AUTHOR]

Background: Autism and schizophrenia spectrum disorders (SSDs) both feature atypical social cognition. Despite evidence for comparable group-level performance in lower-level emotion processing and higher-level mentalizing, limited research has examined the neural basis of social cognition across these conditions. Our goal was to compare the neural correlates of social cognition in autism, SSDs, and typically developing controls (TDCs). Methods: Data came from two harmonized studies in individuals diagnosed with autism or SSDs and TDCs (aged 16–35 years), including behavioral social cognitive metrics and two functional magnetic resonance imaging (fMRI) tasks: a social mirroring Imitate/Observe (ImObs) task and the Empathic Accuracy (EA) task. Group-level comparisons, and transdiagnostic analyses incorporating social cognitive performance, were run using FSL's PALM for each task, covarying for age and sex (1000 permutations, thresholded at p < 0.05 FWE-corrected). Exploratory region of interest (ROI)-based analyses were also conducted. Results: ImObs and EA analyses included 164 and 174 participants, respectively (autism N = 56/59, SSD N = 50/56, TDC N = 58/59). EA and both lower- and higher-level social cognition scores differed across groups. While canonical social cognitive networks were activated, no significant whole-brain or ROI-based group-level differences in neural correlates for either task were detected. Transdiagnostically, neural activity during the EA task, but not the ImObs task, was associated with lower- and higher-level social cognitive performance. Limitations: Despite attempting to match our groups on age, sex, and race, significant group differences remained. Power to detect regional brain differences is also influenced by sample size and multiple comparisons in whole-brain analyses. Our findings may not generalize to autism and SSD individuals with co-occurring intellectual disabilities. Conclusions: The lack of whole-brain and ROI-based group-level differences identified and the dimensional EA brain-behavior relationship observed across our sample suggest that the EA task may be well-suited to target engagement in novel intervention testing. Our results also emphasize the potential utility of cross-condition approaches to better understand social cognition across autism and SSDs. [ABSTRACT FROM AUTHOR]

Familial Alzheimer's disease (FAD), despite representing a rare condition, is attracting a growing interest in the scientific community. Improved phenotyping of FAD cases may have a relevant impact both in clinical and research contexts. We performed a systematic review of studies describing the phenotypic features of FAD cases sustained by PSEN2 mutations, the less common cause of monogenic AD. Special attention was given to the clinical manifestations as well as to the main findings coming from the most commonly and widely adopted diagnostic procedures. Basing on the collected data, we also attempted to conduct a genotype-phenotype correlation analysis. Overall, the mutations involving the PSEN2 gene represent an extremely rare cause of FAD, having been reported to date in less than 200 cases. They are mainly associated, despite some peculiar and heterogeneous features, to a typical AD phenotype. Nevertheless, the frequent occurrence of psychotic symptoms may represent a potential distinctive element. The scarcity of available phenotypic descriptions strongly limits the implementation of genotype-phenotype correlations., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

Anger and aggressive behavior (AB) are two of the main post-stroke behavioral manifestations, which could imply both an anger trait (TA) or a state condition of anger (SA). Serotonergic system is thought to play an inhibitory control on aggressive impulse. Nevertheless, whether 5HT has the same role in TA and in SA, is still debated. Intensity dependence of auditory evoked potentials (IDAP) is thought to be inversely related to the central 5HT tone. The aim of this study was to evaluate, in acute stroke patients, the 5HT system involvement in AB by IDAP. Consecutive stroke patients were evaluated and compared with healthy controls. The Spielberger Trait Anger Scale (STAS) was used to assess AB, SA and TA. Patients with AB and TA showed a significantly increased IDAP value, whereas patients with SA had a significantly lower IDAP; this indicates an increased 5HT tone. In acute stroke patients with AB, there is a decreased central 5HT tone. Surprisingly, we found an opposite 5HT feature between patients with TA and those showing SA, suggesting that the hypothesis of aggression based on 5HT deficiency requires further investigations. This might open new strategies in the treatment of post-stroke AB., (© 2014 S. Karger AG, Basel.)

Cardioembolic stroke is generally caused by intracranial artery occlusion. Clots may be identified in the intracranial vessels by means of conventional neuroimaging in the acute phase. High-resolution ultrasonography may show some features suggestive of cardiac emboli when occluding extracranial carotid arteries. We describe a patient with cardioembolic ischemic stroke in the right hemisphere in whom a left internal carotid artery stenosis paradoxically protected the ipsilateral hemisphere from distal intracranial embolism. The patient also presented multiple acute ischemic embolic lesions in the right middle cerebral artery territory and in the right occipital lobe, which was fed by the posterior cerebral artery, anomally originating from the right carotid siphon. Interestingly, the left internal carotid artery--which showed a severe preexisting stenosis--was occluded by the cardiac clot, whereas the right internal carotid artery only presented a moderate stenosis that had probably allowed the clots to pass. Therefore, the severe left internal carotid artery stenosis may have blocked the cardiac embolus, preventing it from reaching the ipsilateral hemisphere., (Copyright © 2013 Wiley Periodicals, Inc., A Wiley Company.)

Inappropriate sexual behaviors (ISB) represent uncommon and often misdiagnosed clinical disorders among patients with Alzheimer disease. So far, no randomized clinical trials regarding the treatment of ISB in demented people have been conducted, but available data from case series and isolated case reports suggest the efficacy of selective serotonin reuptake inhibitors (SSRIs), antipsychotics, antiandrogens, and H2-receptor antagonists. Controversial data exist on the therapeutic influence of cholinesterase inhibitors on sexual disorders. In the present article, we describe the case of an Alzheimer disease patient presenting hypersexuality, successfully treated with rivastigmine. Thus, we perform a revision of the existing literature regarding the therapeutical effect of cholinesterase inhibitors in the treatment of ISB.

Background: The attachment model, as assessed by means of the Adult Attachment Interview (AAI), is crucial for understanding emotion regulation and feelings of security in human interactions as well as for the construction of the caregiving system. The caregiving system is a set of representations about affiliative behaviors, guided by sensitivity and empathy, and is fully mature in young-adulthood. Here, we examine how different attachment models influence brain responses in areas related to empathy and emotions in young-adult subjects with secure and dismissing attachment models., Methods: By means of AAI, we selected 11 nulliparous young-adult females with a secure model and 12 with a dismissing model. Subjects underwent functional magnetic resonance, whereas imitating or observing and empathizing with infant facial expressions. Subjects were tested for alexithymia and reflective functioning., Results: Dismissing subjects activated motor, mirror, and limbic brain areas to a significantly greater extent, but deactivated the medial orbitofrontal cortex (mOFC) and the perigenual anterior cingulated cortex (pACC). During emotional faces, increased activity in dismissing women was seen in the right temporal pole. Furthermore, greater alexithymia was correlated with greater activity in the entorhinal cortex and greater deactivation in the pACC/mOFC., Conclusions: These findings provide evidence of how the attachment model influences brain responses during a task eliciting attachment. In particular, hyperactivation of limbic and mirror areas may reflect emotional dysregulation of infantile experiences of rejection and lack of protection, whereas increased deactivation of fronto-medial areas may be the expression of the inhibition of attachment behaviors, which is a typical aspect of dismissing attachment., (Copyright © 2012 Wiley Periodicals, Inc.)