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The duplication of the Williams-Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language. Herein, we studied, by using functional morphological and volumetric magnetic resonance, a 17-year-old male patient who displays a de novo 7q11.23 duplication and ASD. The limbic system of the patient appeared hypo-functional, while the total brain volume was increased, thus contrasting, in an opposite and intriguing manner, with the global brain volume reduction reported in WBS. Even if these findings come from the analysis of a single patient and, therefore, have to be considered preliminary results, they encourage carrying on further functional and volumetric studies in patients with 7q11.23 duplication, to fully elucidate the role of this genedosage alteration on brain development and limbic system function. Keywords Autism spectrum disorders * 7q11.23 Duplication * Amygdala * Williams-Beuren syndrome * Limbic system * Magnetic resonance * Functional magnetic resonance, Introduction Genome-wide analyses of copy-number variants (CNVs) have demonstrated that the duplication of the 7q11.23 region is associated with autism spectrum disorder (ASD) (7dupASD, OMIM #609757) and with a highly [...]

Background and Purpose: Wearing-off is one of the most frequent problems encountered by levodopa-treated patients. Entacapone, a peripheral inhibitor of catechol-O-methyltransferase (COMT), reduces this motor complication by prolonging the effect of levodopa. We sought to understand the impact of COMT-inhibition on movement execution in PD patients with wearing-off by comparing functional magnetic resonance imaging (f-MRI) activation patterns prior to and during entacapone treatment. Our hypothesis was to determine whether changes in cortical activation are associated to COMT-inhibitor treatment. Methods: Nine levodopa-treated non-demented PD patients with wearing-off were prospectively studied in two f-MRI session, prior to and during entacapone treatment. A group of control subjects were also studied for comparison. Results: The patients significantly improved under COMT-inhibitor treatment based on home diaries. F-MRI results showed that at baseline the patients presented a bilateral activation of the primary motor, controlateral premotor cortex and supplementary motor area, as well as ipsilateral cerebellum. During treatment with entacapone, PD patients showed reductions in the activations of these cortical areas and a decreased activation in the ipsilateral cerebellum. Conclusions: Our preliminary findings indicate that f-MRI is able to detect cortical activation changes during long-term modulation of dopaminergic treatment in PD patients with wearing-off, and thus, this technique could be further investigated in advanced PD patients. [ABSTRACT FROM AUTHOR]

Cerebral maturation is characterized by different age-dependent molecular and cellular processes and follows a different course for grey matter (GM) and white matter (WM). During brain development, a crucial point seems to be represented by the establishment of a hemispheric specialization with the left hemisphere dominant for language and motor control and the right hemisphere dominant for visuospatial processing and attention. Therefore, motor and cognitive development are strongly connected. Atypical motor development and lateralization can be associated with neurodevelopmental disorders, such as Language Disorder, Learning Disorders (Dysgraphia and Dyslexia), Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder. The aim of our research was to investigate the possible effects of intensive motor training on WM plasticity and writing skills in children with Developmental Dysgraphia through a tractography study of the main WM tracts. Considering the effect of training for the Mean Diffusivity (MD) over 18 WM tracts, in 6 collaborating dysgraphic patient MD decrease (-4.3%) and in 3 not. Intensive motor training affects both stimulated and not stimulated WM tracts and showed a double not-specificity: for not stimulated hemilate and for not directly stimulated WM tracts. Intensive motor training improves both some lateralized brain functions and intra- and inter-hemispheric connectivity in our patients with good compliance with motor treatment. Moreover, our findings have shown that WM plasticity improvement concerned cortical areas responsible for both motor and cognitive functions.

Music is a very important factor in everyday life, involving mood, emotions and memories. The effect of music on the brain is very debated. Certainly, music activates a complex network of neurones in auditory areas, mesolimbic areas, cerebellum and multisensory areas. In particular, music exerts its effects on the brain of patients with epilepsy, having a dichotomous influence: it can either be seizure-promoting in musicogenic epilepsy or antiepileptic. Several studies have shown that seizure-prone neural networks may be stimulated by certain periodicities while other frequencies may prevent seizure activity. There are a lot of data in the literature about the so-called "Mozart effect" (Rauscher et al. 1993). In previous studies we observed that in institutionalized subjects with severe/profound intellectual disability and drug-resistant epilepsy, a systematic music listening protocol reduced the frequency of seizures in about 50% of the cases. In this study we are conducting a survey on the observation of what happens to the brain of patients suffering from drug-resistant epilepsy through electroencephalographic investigations, brain MRI and behavioural analysis before and after six months of listening to Mozart music (Sonata K.448). The first step is to present the data of the first patient under investigation.