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Nature Reviews Disease Primers article number: 15082; doi:10.1038/nrdp.2015.82; published online 7 Jan 2016 In the version of the article originally published, two of the reference highlights were included in the incorrect place. The highlight for reference 128 now reads: This is the first study to compare the severity of dystonia and motor function in children with isolated monogenetic dystonia, progressive dystonias and dystonic cerebral palsy.

Mu and alpha oscillations (8–12 Hz) are the most prominent electroencephalographic rhythms observed in awake, relaxed subjects. Different cortical sources may participate in these oscillations and appear to be modulated by the sensorimotor context and functional demands. In microgravity, the marked reduction in multimodal graviceptive inputs to cortical networks participating in the representation of space could be expected to affect these spontaneous rhythms. Here, we report the results of an experiment conducted over the course of 3 space flights, in which we quantified the power of the mu and alpha rhythms in relation to the arrest reaction (i.e. in 2 distinct physiological states: eyes open and eyes closed). We observed that the power of the spontaneous mu and alpha rhythms recorded in the eyesclosed state in the sensorimotor areas (mu rhythm) and in the parieto-occipital cortex (alpha rhythm) increased in microgravity. The suppression coefficient produced by eye-opening/ closure state transition also increased in microgravity. These results are discussed in terms of current theories on the source and the physiological significance of these EEG rhythms.

BACKGROUND: Individuals with alcoholism are characterized by both attentional bias for alcohol cues and prepotent response inhibition deficit. We tested the hypothesis that alcoholics exhibit greater cognitive disinhibition when the response to be suppressed is associated with alcohol-related information. METHODS: Forty recently detoxified individuals with alcoholism were compared with 40 healthy non-substance abusers on the "Alcohol-Shifting Task", a variant of the go/no-go paradigm requiring a motor response to targets and no response to distracters. The aim was to test the ability of alcoholics to discriminate between alcohol-related and neutral words. Sometimes, the alcohol-related words were the targets for the "go" response, with neutral words as distracters, sometimes the reverse. Several shifts in target type occurred during the task. RESULTS: Alcoholics made significantly more commission errors (i.e. press a key when a distracter displayed) and more omission errors (i.e. not press a key when a target displayed) than controls. Moreover, the number of commission errors was greater in alcoholics when alcohol-related stimuli had to be detected. CONCLUSIONS: These results demonstrate that alcoholics exhibit a basic prepotent response inhibition deficit, which is enhanced when the response to be suppressed is related to alcohol. We discuss clinical and theoretical implications of these findings., Journal Article, info:eu-repo/semantics/published

Background: Unusual acute symptomatic and reversible early-delayed leukoencephalopathy has been reported to be induced by methotrexate (MTX). Objective: We aimed to identify the occurrence of such atypical MTX neurotoxicity in children and document its MR presentation. Materials and methods: We retrospectively reviewed the clinical findings and brain MRI obtained in 90 children treated with MTX for acute lymphoblastic leukaemia or non-B malignant non-Hodgkin lymphoma. All 90 patients had normal brain imaging before treatment. In these patients, brain imaging was performed after treatment completion and/or relapse and/or occurrence of neurological symptoms. Results: Of the 90 patients, 15 (16.7%) showed signs of MTX neurotoxicity on brain MRI, 9 (10%) were asymptomatic, and 6 (6.7%) showed signs of acute leukoencephalopathy. On the routine brain MRI performed at the end of treatment, all asymptomatic patients had classical MR findings of reversible MTX neurotoxicity, such as abnormal high-intensity areas localized in the deep periventricular white matter on T2-weighted images. In contrast, the six symptomatic patients had atypical brain MRI characterized by T2 high-intensity areas in the supratentorial cortex and subcortical white matter (n=6), cerebellar cortex and white matter (n=4), deep periventricular white matter (n=2) and thalamus (n=1). MR normalization occurred later than clinical recovery in these six patients. Conclusions: In addition to mostly asymptomatic classical MTX neurotoxicity, MTX may induce severe but reversible unusual leukoencephalopathy. It is important to recognize this clinicoradiological presentation in the differential diagnosis of acute neurological deterioration in children treated with MTX.

We have investigated the breakpoints in a male child with pharmacoresistant epileptic encephalopathy and a de novo balanced translocation t(Y;4)(q11.2;q21). By fluorescence in situ hybridisation, we have identified genomic clones from both chromosome 4 and chromosome Y that span the breakpoints. Precise mapping of the chromosome 4 breakpoint indicated that the c-Jun N-terminal kinase 3 (JNK3) gene is disrupted in the patient. This gene is predominantly expressed in the central nervous system, and it plays an established role in both neuronal differentiation and apoptosis. Expression studies in the patient lymphoblastoid cell line show that the truncated JNK3 protein is expressed, i.e. the disrupted transcript is not immediately subject to nonsense-mediated mRNA decay, as is often the case for truncated mRNAs or those harbouring premature termination codons. Over-expression studies with the mutant protein in various cell lines, including neural cells, indicate that both its solubility and cellular localisation differ from that of the wild-type JNK3. It is plausible, therefore, that the presence of the truncated JNK3 disrupts normal JNK3 signal transduction in neuronal cells. JNK3 is one of the downstream effectors of the GTPase-regulated MAP kinase cascade, several members of which have been implicated in cognitive function. In addition, two known JNK3-interacting proteins, beta-arrestin 2 and JIP3, play established roles in neurite outgrowth and neurological development. These interactions are likely affected by a truncated JNK3 protein, and thereby provide an explanation for the link between alterations in MAP kinase signal transduction and brain disorders., Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

In-line skating has been reported to cause severe head injury. Basilar skull fracture (BSF) is associated with a high risk of complication. We report two children who had bacterial meningitis following seemingly trivial in-line skating injuries. In both, anterior BSF was diagnosed retrospectively following occurrence of Streptococcus pneumoniae meningitis. The clinical signs indicating BSF depend on the fracture location. Plain skull radiography and computed tomography (CT) are not sensitive enough to detect thin fractures in the anterior cranial fossa. We argue that high resolution multiple-plane CT and coronal T2-weighted magnetic resonance imaging are indicated to diagnose BSF.

We report the clinical, radiological and electrophysiological signs in two unrelated girls with the connatal form of Pelizaeus-Merzbacher disease (PMD). MRI plays an important role in the diagnosis, demonstrating the virtual absence of myelination. PMD is classically described as an X-linked leukodystrophy. Our two cases reinforce the hypothesis of a possible autosomal recessive transmission of the connatal form of PMD in some families, as recently presented.

BACKGROUND: Evoked potentials have been proposed to result from phase-locking of electroencephalographic (EEG) activities within specific frequency bands. However, the respective contribution of phasic activity and phase resetting of ongoing EEG oscillation remains largely debated. We here applied the EEGlab procedure in order to quantify the contribution of electroencephalographic oscillation in the generation of the frontal N30 component of the somatosensory evoked potentials (SEP) triggered by median nerve electrical stimulation at the wrist. Power spectrum and intertrial coherence analysis were performed on EEG recordings in relation to median nerve stimulation. RESULTS: The frontal N30 component was accompanied by a significant phase-locking of beta/gamma oscillation (25-35 Hz) and to a lesser extent of 80 Hz oscillation. After the selection in each subject of the trials for which the power spectrum amplitude remained unchanged, we found pure phase-locking of beta/gamma oscillation (25-35 Hz) peaking about 30 ms after the stimulation. Transition across trials from uniform to normal phase distribution revealed temporal phase reorganization of ongoing 30 Hz EEG oscillations in relation to stimulation. In a proportion of trials, this phase-locking was accompanied by a spectral power increase peaking in the 30 Hz frequency band. This corresponds to the complex situation of 'phase-locking with enhancement' in which the distinction between the contribution of phasic neural event versus EEG phase resetting is hazardous. CONCLUSION: The identification of a pure phase-locking in a large proportion of the SEP trials reinforces the contribution of the oscillatory model for the physiological correlates of the frontal N30. This may imply that ongoing EEG rhythms, such as beta/gamma oscillation, are involved in somatosensory information processing., Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published