New variant of necklace fibres display peculiar lysosomal structures and mitophagy.

Here, we describe a new variant of necklace fibres with specific myopathological features that have not been described thus far. They were observed in two patients, from two independent families with identical DNM2 (dynamin 2) mutation (c.1106 G > A (p.

Long-Lasting Enhancement of Visual Perception with Repetitive Noninvasive Transcranial Direct Current Stimulation.

Understanding processes performed by an intact visual cortex as the basis for developing methods that enhance or restore visual perception is of great interest to both researchers and medical practitioners. Here, we explore whether contrast sensitivity, a main function of the primary visual cortex (V1), can be improved in healthy subjects by repetitive, noninvasive anodal transcranial direct current stimulation (tDCS). Contrast perception was measured via threshold perimetry directly before and after intervention (tDCS or sham stimulation) on each day over 5 consecutive days (24 subjects, double-blind study).

Multiple, Successful Pregnancies in Pompe Disease.

Pompe disease is an autosomal recessive lysosomal storage disease characterized in adult patients by slowly progressive limb-girdle muscle weakness and respiratory insufficiency. Data on pregnancy in women with Pompe disease, intrauterine development of the fetus and parturition are rare. Here we describe a twin pregnancy followed by a second pregnancy in a 38-year-old female patient with Pompe disease.

Dissociable spatial and non-spatial attentional deficits after circumscribed thalamic stroke.

Thalamic nuclei act as sensory, motor and cognitive relays between multiple subcortical areas and the cerebral cortex. They play a crucial role in cognitive functions such as executive functioning, memory and attention. In the acute period after thalamic stroke attentional deficits are common.

Timing of spatial priming within the fronto-parietal attention network: A TMS study.

The posterior parietal cortex (PPC) and the dorsolateral prefrontal cortex (DLPFC) are known to be part of a cortical network involved in visual spatial attention. Top-down control can modulate processing at target and distractor positions over a sequence of trials, leading to positive priming at prior target positions and negative priming at prior distractor positions. In order to elucidate the exact time course of this top-down mechanism we here propose a transcranial magnetic stimulation (TMS) protocol.

Mechanisms and neuronal networks involved in reactive and proactive cognitive control of interference in working memory.

Cognitive control can be reactive or proactive in nature. Reactive control mechanisms, which support the resolution of interference, start after its onset. Conversely, proactive control involves the anticipation and prevention of interference prior to its occurrence.

Evolution of premotor cortical excitability after cathodal inhibition of the primary motor cortex: a sham-controlled serial navigated TMS study.

Background: Premotor cortical regions (PMC) play an important role in the orchestration of motor function, yet their role in compensatory mechanisms in a disturbed motor system is largely unclear. Previous studies are consistent in describing pronounced anatomical and functional connectivity between the PMC and the primary motor cortex (M1). Lesion studies consistently show compensatory adaptive changes in PMC neural activity following an M1 lesion.

Neurological and neuropsychological characteristics of occipital, occipito-temporal and occipito-parietal infarction.

Neuropsychological deficits after occipital infarction are most often described in case studies and only a small sample of studies has attempted to exactly correlate the anatomical localization of lesions with associated neuropsychological symptoms. The present study investigated a large number of patients (N = 128) in order to provide an overview of neurological and neuropsychological deficits after occipital, occipito-temporal and occipito-parietal infarction. A particular approach of the study was to define exact anatomical correlates of neuropsychological dysfunction by using voxel-based lesion-symptom mapping (VLSM) in 61 patients.

Excitability changes in the visual cortex quantified with signal detection analysis.

Purpose: TDCS can increase excitability in the visual cortex. It is a matter of current debate if tDCS can improve visual performance. Promising parameters to measure detection sensitivity may be those of the signal detection theory ( = SDT), as it allows differentiating between response bias and detection sensitivity changes.

Transcranial direct current stimulation affects visual perception measured by threshold perimetry.

In this study, we aimed to characterize the effect of anodal and cathodal direct current stimulation (tDCS) on contrast sensitivity inside the central 10 degrees of the visual field in healthy subjects. Distinct eccentricities were investigated separately, since at the cortical level, more central regions of the visual field are represented closer to the occipital pole, i.e.

A case of pathological excitability located with navigated-TMS: presurgical evaluation of focal neocortical epilepsy.

Purpose: The quality of presurgical evaluation in focal extratemporal epilepsy surgery is highly dependent on precise structural and functional identification of the epileptic focus. Navigated transcranial magnetic stimulation (nTMS) is a tool that combines the spatial information of high-resolution magnetic resonance imaging (MRI) with the functionality of non-invasive cortical stimulation. The non-invasive character of nTMS suggests that it could be a promising tool for presurgical evaluation of cortical excitability.

Electrophysiological evidence for cognitive control during conflict processing in visual spatial attention.

Event-related potentials were measured to investigate the role of visual spatial attention mechanisms in conflict processing. We suggested that a more difficult target selection leads to stronger attentional top-down control, thereby reducing the effects of arising conflicts. This hypothesis was tested by varying the selection difficulty in a location negative priming (NP) paradigm.

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

Myofibrillar myopathies (MFMs) are an expanding and increasingly recognized group of neuromuscular disorders caused by mutations in DES, CRYAB, MYOT, and ZASP. The latest gene to be associated with MFM was FLNC; a p.W2710X mutation in the 24th immunoglobulin-like repeat of filamin C was shown to be the cause of a distinct type of MFM in several German families.

Transcranial cortex stimulation and fMRI: electrophysiological correlates of dual-pulse BOLD signal modulation.

Unlabelled: Are the local hemodynamic changes in BOLD-fMRI correlated to increased or decreased neuronal activity or both? We combined transcranial electrical cortex stimulation (TES) with simultaneous fMRI and electromyographic (EMG) recording to study the influence of inhibitory and excitatory neuronal activity on the concomitant BOLD signal change. Unilateral or bilateral TES was applied with a postero-anterior orientation. This activates pyramidal cells transsynaptically and allows for the induction of cortical inhibition and excitation of the pyramidal cell, respectively.

Influence of ipsilateral transcranial magnetic stimulation on the triphasic EMG pattern accompanying fast ballistic movements in humans.

Fast ballistic flexion movements of the wrist are produced by a triphasic pattern of electromyographic (EMG) activity in flexor and extensor muscle. Whereas it is generally accepted that the primary motor cortex generates the first agonist burst (AG1), its contribution to the following antagonist burst (ANT) and second agonist burst (AG2) is unresolved. We applied single pulses of suprathreshold transcranial magnetic stimulation (TMS) at different times to the motor cortex ipsilateral to wrist flexion.

Comparison of motor effects following subcortical electrical stimulation through electrodes in the globus pallidus internus and cortical transcranial magnetic stimulation.

Current concepts of transcranial magnetic stimulation (TMS) over the primary motor cortex are still under debate as to whether inhibitory motor effects are exclusively of cortical origin. To further elucidate a potential subcortical influence on motor effects, we combined TMS and unilateral subcortical electrical stimulation (SES) of the corticospinal tract. SES was performed through implanted depth electrodes in eight patients treated with deep brain stimulation (DBS) for severe dystonia.

In vivo study indicating loss of intracortical inhibition in tumor-associated epilepsy.

Transcranial magnetic stimulation was performed in 2 patients with focal motor seizures in the right hand caused by a circumscribed tumor process affecting the left precentral gyrus. In both cases, paired-pulse transcranial magnetic stimulation showed a loss of intracortical inhibition for interstimulus intervals of 2 to 4msec that was replaced by an enormous facilitation in the lesioned hand motor cortex. The uniform impairment of inhibitory mechanisms in epileptogenic tumors with different histologies suggests a common, nonspecific cause of tumor-related epileptogenesis.

Changes in visual cortex excitability in blind subjects as demonstrated by transcranial magnetic stimulation.

Any attempt to restore visual functions in blind subjects with pregeniculate lesions provokes the question of the extent to which deafferented visual cortex is still able to generate conscious visual experience. As a simple approach to assessing activation of the visual cortex, subjects can be asked to report conscious subjective light sensations (phosphenes) elicited by focal transcranial magnetic stimulation (TMS) over the occiput. We hypothesized that such induction of phosphenes can be used as an indicator of residual function of the visual cortex and studied 35 registered blind subjects after partial or complete long-term (>10 years) deafferentation of the visual cortex due to pregeniculate lesions.