Search results for "psicobiologia"
showing 10 items of 285 documents
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abn…
2021
Fragile X syndrome (FXS; MIM 300624) is an X-linked genetic disorder characterized by physical abnormalities associated with intellectual disability and a wide spectrum of neurological and psychiatric impairments. FXS occurs more frequently in males, 1 in 5000 males and 1 in 8000 females accounting for 1-2% of overall intellectual disability (ID). In more than 99% of patients, FXS results from expansions of a CGG triplet repeat (>200 in male) of the FMR1 gene. In the last years an increasing number, albeit still limited, of FXS subjects carrying FMR1 mutations including deletions, splicing errors, missense, and nonsense variants was reported. Nevertheless, the studies concerning the func…
A second family with familial AD and the V717L APP mutation has a later age at onset
2006
Four mutations have been reported at the 717 codon of the amyloid precursor protein (APP), with valine substituted by isoleucine, glycine, phenylalanine, and leucine. While several families with the isoleucine substitution have been described, the other substitutions have been reported in only one family each worldwide. A family with the V717L APP mutation has been previously reported,1 with a mean age at onset of 38 years (range 35 to 39), based on four affected family members, and a mean age at death of 46 years (range 40 to 50). We have identified a second family with a later mean age at onset of 50 years (range 48 to 57) and mean age at death of 61 years (range 57 to 68). Family 171 is …
Neuropsychological performance 10 years after immunization in infancy with thimerosal-containing vaccines
2009
OBJECTIVE. Thimerosal, a mercury compound used as a preservative in vaccines administered during infancy, has been suspected to affect neuropsychological development. We compared the neuropsychological performance, 10 years after vaccination, of 2 groups of children exposed randomly to different amounts of thimerosal through immunization. METHODS. Children who were enrolled in an efficacy trial of pertussis vaccines in 1992–1993 were contacted in 2003. Two groups of children were identified, according to thimerosal content in vaccines assigned randomly in the first year of life (cumulative ethylmercury intake of 62.5 or 137.5 μg), and were compared with respect to neuropsychological outcome…
Feeling physical pain while depressed: The effect of alexithymia
2020
Background: In the literature, depression and alexithymia are associated with greater pain perception. It is unknown whether depression and alexithymia have additive effects on perceived pain. Methods: The present study examined 152 participants (96 women, 56 men). Participants completed the 20-item Toronto Alexithymia Scale, the Hamilton Depression Rating Scale, the Brief Pain Inventory, and the NEO Personality Inventory. There were 49 participants in the active phase of depression with either definite (n = 15) or no alexithymia (n = 34). One hundred three participants showed no depression with either definite (n = 14) or no alexithymia (n = 89). Results: Pain severity showed a small but s…
Resonance of cortico-cortical connections of the motor system with the observation of goal directed grasping movements
2010
Goal directed movements require the activation of parietal, premotor and primary motor areas. In monkeys, neurons of these areas become active also during the observation of movements performed by others, especially for coding the goal of the action (mirror system). Using bifocal transcranial magnetic stimulation (TMS) in healthy subjects, we tested whether the observation of goal directed reach to grasp actions may lead to specific changes in the short-latency connections linking key areas of the mirror system, such as the anterior intraparietal cortex (AIP) and the ventral premotor cortex (PMv), with the primary motor cortex (M1). We found that AIP-M1 and PMv-M1 cortico-cortical interacti…
Cortical networks of procedural learning: Evidence from cerebellar damage
2007
The lateral cerebellum plays a critical role in procedural learning that goes beyond the strict motor control functions attributed to it. Patients with cerebellar damage show marked impairment in the acquisition of procedures, as revealed by their performance on the serial reaction time task (SRTT). Here we present the case of a patient affected by ischemic damage involving the left cerebellum who showed a selective deficit in procedural learning while performing the SRTT with the left hand. The deficit recovered when the cortical excitability of an extensive network involving both cerebellar hemispheres and the dorsolateral prefrontal cortex (DLPFC) was decreased by low-frequency repetitiv…
"I Know that You Know that I Know": Neural Substrates Associated with Social Cognition Deficits in DM1 Patients.
2016
Myotonic dystrophy type-1 (DM1) is a genetic multi-systemic disorder involving several organs including the brain. Despite the heterogeneity of this condition, some patients with non-congenital DM1 can present with minimal cognitive impairment on formal testing but with severe difficulties in daily-living activities including social interactions. One explanation for this paradoxical mismatch can be found in patients' dysfunctional social cognition, which can be assessed in the framework of the Theory of Mind (ToM). We hypothesize here that specific disease driven abnormalities in DM1 brains may result in ToM impairments. We recruited 20 DM1 patients who underwent the "Reading the Mind in th…
The role of right and left posterior parietal cortex in the modulation of spatial attentional biases by self and non-self face stimuli
2012
In the present research we investigated whether the direction of the attentional bias in line bisection judgment displayed by healthy subjects is influenced by the evaluation of the social distance between self and other. We used inhibitory repetitive transcranial magnetic stimulation (rTMS) trains over the right and left parietal cortex to investigate the role of these regions in the task. Following right parietal rTMS, the self face is perceived as closer when it is located at the right line endpoint; following left parietal rTMS, the self face is perceived as closer when it is located at the left line endpoint. In both cases, the side of space ipsilateral to the rTMS is underestimated fr…
The role of the prefrontal cortex in familiarity and recollection processes during verbal and non verbal recognition memory: a rTMS study.
2010
Neuroimaging and lesion studies have documented the involvement of the frontal lobes in recognition memory. However, the precise nature of prefrontal contributions to verbal and non-verbal memory and to familiarity and recollection processes remains unclear. The aim of the current rTMS study was to investigate for the first time the role of the DLPFC in encoding and retrieval of non-verbal and verbal memoranda and its contribution to recollection and familiarity processes. Recollection and familiarity processes were studied using the ROC and unequal variance signal detection methodologies. We found that rTMS delivered over left and right DLPFC at encoding resulted in material specific later…
High-frequency rTMS improves time perception in Parkinson disease.
2004
Patients with Parkinson disease (PD) are impaired in time processing. The authors investigated the effects of high-frequency (5 Hz) repetitive transcranial magnetic stimulation (rTMS) in patients with PD performing a time reproduction task. The authors found significant improvement in time processing induced by rTMS when trains were applied over the right dorsolateral prefrontal cortex (DLPFC) but not over the supplementary motor area, suggesting that the circuit involving the basal ganglia and the DLPFC might constitute the neural network subserving time perception.