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Although the neurologic complications of HIV- 1 infection during the first two years of life have been defined, the neurologic features in older children are not so well described. The present report is focused on the age-dependent neurologic presentation of HIV-1 infection. Sixty-two vertically HIV-1 infected children underwent detailed serial evaluations: neurologic assessment, neuropsychological tests, neuroimaging studies, and cerebrospinal fluid analysis. Neurologic involvement was found in 30 patients (48.3%). This population was divided into two groups, exhibiting progressive (83.3%) or nonprogressive (16.6%) neurologic signs and symptoms. In the first group of patients, progressive encephalopathy was distinguished from spastic paraparesis, possibly due to spinal cord involvement. The second group, represented by long-term survivors, requires clinical monitoring due to the possible prognostic value of acquired but presently nonprogressive signs of brain involvement. In contrast with the stereotyped features of the early form of progressive encephalopathy, the late form showed a polymorphic picture, with age-dependent neurologic manifestations. Multifocal white matter alterations and cerebral calcifications (sometimes with delayed onset and progression) were the prominent imaging findings. A correlation between cerebrospinal fluid HIV RNA levels, suggestive of viral replication within the central nervous system, and progressive neurological disease were also found. [ABSTRACT FROM AUTHOR]

Mutations in the epsilon-sarcoglycan (SGCE) gene have been associated with DYT11 myoclonus-dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11-MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all of the patients, and included short (mean 89.1 +/- 13.3 milliseconds) electromyographic bursts without any electroencephalographic correlate, sometimes presenting a pseudo-rhythmic course. Massive jerks could be evoked by sudden stimuli in 5 patients, showing a 'startle-like' muscle spreading and latencies consistent with a brainstem origin. Somatosensory evoked potentials and long-loop reflexes were normal, as was silent period and long-term intracortical inhibition evaluated by means of transcranial magnetic stimulation; however, short-term intracortical inhibition revealed subtle impairment, and event-related synchronization (ERS) in the beta band was delayed. Blink reflex recovery was strongly enhanced. Myoclonus in DYT11-MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries. Cortical impairment may depend from subcortical dysfunction, but it can also have a role in influencing the myoclonic presentation. The wide distribution of the defective SCGE in DYT11-MDS may justify the involvement of different brain areas. [ABSTRACT FROM AUTHOR]

It is widely known that humans have a tendency to imitate each other and that appropriate modulation of automatic imitative behaviors has a crucial function in social interactions. Gilles de la Tourette syndrome (GTS) is a childhood-onset neuropsychiatric disorder characterized by motor and phonic tics. Apart from tics, patients with GTS are often reported to show an abnormal tendency to automatically imitate others' behaviors (i.e., echophenomena), which may be related to a failure in top-down inhibition of imitative response tendencies. The aim of the current study is to explore the top-down inhibitory mechanisms on automatic imitative behaviors in youngsters with GTS. Error rates and reaction times from 32 participants with GTS and 32 controls were collected in response to an automatic imitation task assessing the influence of observed movements displayed in the first-person perspective on congruent and incongruent motor responses. Results showed that participants with GTS had higher error rates than controls, and their responses were faster than those of controls in incompatible stimuli. Our findings provide novel evidence of a key difference between youngsters with GTS and typically developing participants in the ability to effectively control the production of own motor responses to sensory inputs deriving from observed actions. [ABSTRACT FROM AUTHOR]

Large carnivores are declining worldwide and few examples of successful reintroductions exist, because of their large home-ranges, low reproductive rates, and penchant for human–wildlife conflict that is the main cause of their decline. Moreover, few studies assess whether habitat suitability predicted before reintroduction, a critical evaluation step, matches post-reintroduction habitat selection. We examined habitat-related factors contributing to a successful brown bear ( Ursus arctos ) reintroduction in central Europe. Starting in 1999, 10 brown bears were translocated from Slovenia to Trentino in the Italian Alps, and this population has since grown by >10%/year. First, we estimated multi-scale resource selection functions (RSF) with GPS collar data and validated models with k-folds cross validation and external VHF data. Then, we used Kappa-statistics to compare our population-scale RSF with a habitat suitability model (HSM) developed to predict potential habitat before reintroduction. Lastly, we employed least-cost path (LCP) analyses integrating our within home-range scale RSF to define movement paths. Overall, the HSM predicted post-reintroduction habitat selection well in many areas, but bears used orchards and shrubs more, and mixed/conifer forests and pastures less than expected prior to reintroduction. Finally, we identified road crossings of predicted paths between preferred habitat patches. We found two potential crossings in the Adige Valley, likely the biggest constraint for the study population to expand eastward and impeding dispersal to/from the closest bear population (Dinaric–Pindos population). Increasing awareness for key brown bear habitats and corridors, especially in potential ecological traps within cultural landscapes, will be necessary for large carnivore conservation. [ABSTRACT FROM AUTHOR]

Purpose.Environmental factors (EF) have an important role on Tourette's symptoms and the same factors can be decisive on the impact that the disease has on people with Tourette syndrome (TS) daily life. The research was carried out by the Neurological Institute Carlo Besta IRCCS Foundation with the principal objective of describing the complete range of functional profiles of children with TS, to define the functioning and the difficulties in social participation. Methods.The research protocol was composed of the ICF-CY questionnaire, WHO-DAS II proxy version, the Vineland Adaptive Behavior Scale and the Kidscreen questionnaires -- Quality of life (QoL) questionnaires for children and adolescents. The research protocol involved a multidisciplinary team (medical staff, psychologist, pedagogist). Results.The children reported higher QoL's level than the QoL attributed by parents. The Vineland scores reflected considerable difficulties in socialisation. Through the EF analysis, this study highlights the facilitating role of the immediate family and health professionals. Conclusions.Beyond the clinical symptoms, this study points out that the therapeutic elements must be identified by a change of environment, and not only in a child's adaptation ability. [ABSTRACT FROM AUTHOR]

This study describes the clinical, immunologic, and virological characteristics of 30 vertically human immunodeficiency virus type 1 (HIV-1)–infected children older than 8 years of age (long-survivors) before the introduction of protease inhibitors therapy. All of them were followed from birth. At the age of 8 years, 7 children presented no HIV-1–associated signs or only mild ones and only 5 had severe clinical manifestations (acquired immune deficiency virus [AIDS]). The remaining 18 children presented moderate signs with some immunodeficiency. The follow-up from 8 years of age (3.5 years on the average) showed that 6 children remained asymptomatic and were therefore defined as long-survivors nonprogressors (average, 13 years) and only 4 children developed AIDS. Progressive encephalopathy was the most striking clinical manifestation at follow-up and occurred in 6 children (always after immunodeficiency) with a polymorphic picture combining eye movement alterations, pyramidal signs and symptoms and mental deterioration. The majority of our long-survivors carried a virus with nonsyncytia-inducing phenotype, thus confirming its association with long survival. A switch to syncytia-inducing phenotype was observed only in 2 cases during the follow-up, but their clinical status did not change at follow-up. [ABSTRACT FROM AUTHOR]

Unlabelled: The case of a 7-month-old boy with vertically acquired immunodeficiency syndrome and multifocal primary cerebral lymphoma is reported. Neither neurological nor neuroradiological findings contributed towards the appropriate diagnosis. Positive Epstein-Barr virus DNA, assessed by means of polymerase chain reaction in cerebrospinal fluid, strongly suggested a diagnosis of primary cerebral lymphoma, which was subsequently confirmed by autopsy.Conclusions: The detection of Epstein-Barr virus DNA using the polymerase chain reaction in cerebrospinal fluid is useful for the diagnosis of primary cerebral lymphoma. [ABSTRACT FROM AUTHOR]

The article reports on a 2015 study that describes neurodegeneration with brain iron accumulation caused by PLA2G6 gene mutations. Topics include aspartate aminotransferase, infantile neuroaxonal dystrophy, lactate dehydrogenase, PLA2G6-associated neurogeneration, hydrolyses glycerophospholipids, and creatine phosphokinase.