The Wolfram-like variant WFS1 destabilizes MAM and compromises autophagy and mitophagy in human and mice.

Dominant variants in (wolframin ER transmembrane glycoprotein), the gene coding for a mitochondria-associated endoplasmic reticulum (ER) membrane (MAM) resident protein, have been associated with Wolfram-like syndrome (WLS). and , WFS1 loss results in reduced ER to mitochondria calcium (Ca) transfer, mitochondrial dysfunction, and enhanced macroautophagy/autophagy and mitophagy. However, in the WLS pathological context, whether the mutant protein triggers the same cellular processes is unknown.

Stroke-related restless legs syndrome: Clinical and anatomo-functional characterization of an emerging entity.

Background And Purpose: Stroke-related restless legs syndrome (sRLS) secondary to ischemic lesions is an emerging entity and an interesting condition, but there are limited available data to help us further understand its underlying pathways. In this study, we characterized sRLS clinically, neuroanatomically and functionally.

Methods: Consecutive patients hospitalized in the Stroke Unit of the University Hospital of Strasbourg were assessed clinically and electrophysiologically for sRLS characteristics.

Intravenous Immunoglobulin Therapy Administered Early after Narcolepsy Type 1 Onset in Three Patients Evaluated by Clinical and Polysomnographic Follow-Up.

Narcolepsy type 1 is a rare disabling sleep disorder mainly characterized by excessive daytime sleepiness and cataplexy, an emotion-triggered sudden loss of muscle tone. Patients have a selective degeneration of hypocretin-producing neurons in the dorsolateral posterior hypothalamus with growing evidence supporting the hypothesis of an autoimmune mechanism. Few case studies that reported intravenous immunoglobulin therapy (IVIg) suggest the efficacy of IVIg when administered early after disease onset, but the results are controversial.

Muscle Damage Due to Fusidic Acid-Statin Interaction: Review of 75 Cases From the French Pharmacovigilance Database and Literature Reports.

Background/area Of Uncertainty: Statins, which reduce cardiovascular risk in both primary and secondary prevention, are one of the most widely prescribed therapeutic classes in the world. Usually well-tolerated, statin-associated muscle symptoms are a well-known adverse effect. Fusidic acid (FA) is a bacteriostatic antibiotic of interest in the treatment of methicillin-resistant Staphylococcus aureus infections.

Restless legs syndrome related to hemorrhage of a thoracic spinal cord cavernoma.

Context: Restless legs syndrome (RLS) is a common neurological disorder characterized by an irresistible urge to move the lower limbs often accompanied by unpleasant sensations in the legs, worsened at rest and in the evening. Symptoms are improved by movement. Its pathophysiology remains poorly understood.

Hyperdopaminergism in lenticulostriate stroke-related restless legs syndrome: an imaging study.

Objective: The pathophysiology of restless legs syndrome (RLS) involves a dopaminergic dysregulation that remains poorly understood, with controversial data from the literature. Stroke-related RLS is a rare condition that involves primarily the basal ganglia, the paramedian pons, and the thalamus. Given these elements, we studied dopaminergic metabolism in patients with RLS secondary to lenticulostriate infarction using structural and nuclear imaging in the striatum ipsilateral to the infarction area, as compared to the contralateral side.

Stroke Mimics in a Stroke Care Pathway Based on MRI Screening.

Background: Since the use of tissue plasminogen activator for acute ischemic stroke (IS), stroke care pathways have been developed for patients with suspicion of acute stroke. The aim of this prospective observational study was to analyze the stroke mimic (SM) characteristics in patients who were part of our stroke care pathway.

Methods: All consecutive patients admitted in the code stroke within a 1-year period were prospectively enrolled in this study.

[RESTLESS LEGS SYNDROME--WILLIS-EKBOM DISEASE].

Restless legs syndrome (RLS) is a sensorimotor disorder with a high prevalence (10% in Caucasian populations). It is a purely clinical diagnosis characterized by an urge to move the lower limbs usually accompanied or caused by unpleasant sensations in the legs with an improvement in symptoms with movement. These sensations occur during inactivity or at rest and worsen in the evening or at night.

Brainstem stroke-related restless legs syndrome: frequency and anatomical considerations.

Background: Given the discordant results of studies that have reported cases of RLS associated with brainstem stroke and the absence of RLS in large series describing the clinical spectrum of brainstem infarctions, we decided to assess RLS in all patients admitted for brainstem stroke.

Methods: All patients who were consecutively referred to the Strasbourg stroke unit for brainstem infarction were prospectively evaluated for RLS. The different parameters analyzed were the topography of the ischemic lesions (magnetic resonance imaging), the different symptoms (sensory, motor, cerebellar, cranial nerves and dysarthria) and the NIH stroke scale.

Restless legs syndrome as a first manifestation of a cerebral infarct.

The onset of restless legs syndrome (RLS) is usually progressive and the neural substrates underlying its pathophysiology remain to be identified. Here we report on a patient presenting with acute-onset RLS that was symptomatic of a right anteromedial pontine infarction. This case is exceptional because RLS appeared several hours before the occurrence of a regressive dysarthria clumsy-hand syndrome.

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Objective: Whole genome sequencing and the screening of 103 families recently led us to identify PRRT2 (proline-rich-transmembrane protein) as the gene causing infantile convulsions (IC) with paroxysmal kinesigenic dyskinesia (PKD) (PKD/IC syndrome, formerly ICCA). There is interfamilial and intrafamilial variability and the patients may have IC or PKD. Association of IC with hemiplegic migraine (HM) has also been reported.

[Indications for thrombolysis in ischemic stroke].

Cerebral MRI with angio-MR are more effective than CT scan for selecting patients with ischemic stroke for thrombolysis. The use of cerebral MRI has to be available 24h a day and everyday as a standardized emergency procedure. Off-label criteria for thrombolysis after acute ischemic stroke are too restritive and have to be revised.

[Telemedicine and fibrinolysis in Franche-Comté].

Introduction: The aim of our study was to compare the efficacy and safety of intravenous thrombolysis of cerebral ischemia as it has been established in a distant hospital (DH) through telemedicine tools or in neurovascular unit of the University Hospital of Besançon.

Method: Our work was conducted retrospectively at the University Hospital of Besançon from 1 January 2003 to December 31, 2009.

Results: Fibrinolysis was introduced at the university hospital in 98/161 patients (61%) and a DH in remote 63/161 patients (39%).

CSF biomarkers in posterior cortical atrophy.

Objective: To describe CSF biomarker profiles in posterior cortical atrophy (PCA), which induces high-order visual deficits often associated with Alzheimer disease (AD) pathology, and relate these findings to clinical and neuropsychological assessment.

Methods: This prospective observational study included 22 patients with PCA who underwent CSF biomarker analysis of total tau (t-tau), phosphorylated tau on amino acid 181 (p-tau181), and amyloid β (Aβ(42)). At group level, the CSF profiles of patients with PCA were compared to those of patients with typical AD and patients with other dementia (OD).

L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.

L-2-hydroxyglutaric aciduria (L-2-HGA) is a metabolic disease with an autosomal recessive mode of inheritance. It was first reported in 1980. Patients with this disease have mutations in both alleles of the L2HDGH gene.

[Limbic encephalitis with severe sleep disorder associated with voltage-gated potassium channels (VGKCs) antibodies].

Introduction: Voltage-gated potassium channels (VGKCs) antibodies are associated with neuromyotonia, limbic encephalitis and Morvan syndrome.

Case Report: We report the case of a patient who, after three weeks of fever, presented an anamnestic syndrome, associated with confusion and partial seizures. MRI showed left hyperintensity of mesial temporal structures on Flair images and right hippocampal atrophy on T1 weighted sequences.

[Fatal giant cell arteritis with severe bilateral involvement of the vertebral arteries].

With steroid therapy, it is commonly considered that prognosis is good in giant cell arteritis. However serious or even fatal complications may occur. Here we report the case of a patient who developed fatal giant cell arteritis with severe stenosis of both vertebral arteries and right carotid siphon.

Lessons from CADASIL.

Vascular dementia (VaD) includes several different vascular mechanisms and changes in the brain. Among VaD, CADASIL is an inherited angiopathy caused by mutations in the Notch3 gene. The pathological hallmark of CADASIL is a granular osmiophilic material deposit (GOM) that is not only found in the brain, but also in the peripheral vascular tree.

Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation.

The authors studied a 47-year-old patient who presented with an association of deafness, acute cerebral stroke-like episode, leukoencephalopathy, and extensive basal ganglia calcifications. Late onset and neuroradiologic findings were atypical for MELAS syndrome (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike episodes). A heteroplasmic G to A transition at nucleotide 4332 in the tRNA glutamine gene was identified in the patient's muscle mitochondrial DNA.