Elisabeth Ruppert

Common variants in P2RY11 are associated with narcolepsy

Growing evidence supports the hypothesis that narcolepsy with cataplexy is an autoimmune disease. We here report genome-wide association analyses for narcolepsy with replication and fine mapping across three ethnic groups (3,406 individuals of European ancestry, 2,414 Asians and 302 African Americans). We identify a SNP in the 3′ untranslated region of P2RY11, the purinergic receptor subtype P2Y11 gene, which is associated with narcolepsy (rs2305795, combined P = 6.1 × 10−10, odds ratio = 1.28, 95% CI 1.19–1.39, n = 5689). The disease-associated allele is correlated with reduced expression of P2RY11 in CD8+ T lymphocytes (72% reduced, P = 0.003) and natural killer (NK) cells (70% reduced, P = 0.031), but not in other peripheral blood mononuclear cell types. The low expression variant is also associated with reduced P2RY11-mediated resistance to ATP-induced cell death in T lymphocytes (P = 0.0007) and natural killer cells (P = 0.001). These results identify P2RY11 as an important regulator of immune-cell survival, with possible implications in narcolepsy and other autoimmune diseases.

Melanopsin as a sleep modulator: circadian gating of the direct effects of light on sleep and altered sleep homeostasis in Opn4(-/-) mice.

Analyses in mice deficient for the blue-light-sensitive photopigment melanopsin show that direct effects of light on behavior and EEG depend on the time of day. The data further suggest an unexpected role for melanopsin in sleep homeostasis.

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. Statistical analyses used the Bayesian paradigm. Results: Thirty patients have been included, and RLS was observed in three patients (10%). Two patients suffered from an exacerbation of symptoms anterior to the stroke, and the other patient a de novo, but transient, RLS. Patients with stroke-induced sensory symptoms have a higher risk to develop brainstem stroke-related RLS as compared to patients without sensory symptoms. Conclusion: The results suggest that RLS should be systematically screened in patients affected with brainstem stroke, especially in the case of stroke-induced sensory symptoms. Clinicians should be aware of this association, especially as efficient treatments are available and allow improving the management of patients affected with stroke. i 2014 S. Karger AG, Basel

Comparaison de deux agendas du sommeil utilisés dans un service hospitalo-universitaire

Objectif Evaluer la non-inferiorite d’un agenda plus complexe par rapport a l’agenda habituel dans la qualite du remplissage des donnees de base, et les determinants de la qualite du recueil. Methodes Etude prospective randomisee, analysee per-protocole dans une population adulte, consultant pour toute pathologie du sommeil. Le premier groupe recevait un agenda habituel (H), le second groupe un agenda sommeil-lumiere (L). Des criteres preetablis distinguaient les agendas correctement remplis des autres. Resultats Sur 682xa0agendas distribues (340xa0L et 342xa0H) 247xa0ont ete retournes (respectivement 38xa0% H et 34xa0% L de retour) et inclus pour analyse. Les deux groupes etaient comparables pour les caracteristiques sociodemographiques et les pathologies du sommeil. Le taux d’agendas bien remplis etait respectivement de 51,5xa0% H, et 47,0xa0% L. L’hypothese de la non-inferiorite de L pour une difference de 0,1xa0sur la proportion d’agendas remplis selon les criteres preetablis n’a pu etre retenue (−0,045xa0IC95xa0=xa0[−0,15 1]). Donner des explications lors de la remise de l’agenda ameliore significativement la qualite du recueil (ORxa0=xa02,08xa0IC95xa0=xa0[1,43 4,76]). Conclusion Nous avons ete surpris par le faible taux de retour d’agendas bien remplis. Bien que la non-inferiorite de l’agenda sommeil-lumiere n’ait pas ete demontree, les informations sur l’exposition a la lumiere recueillies sont interessantes pour le diagnostic et la therapeutique. Les explications fournies lors de la remise des agendas conditionnent la qualite du remplissage.

Aspects EEG chez quatre patients avec intoxication au baclofène

Le baclofene (Lioresal

Bedtime-related jerks in the upper limbs associated with restless arms syndrome

A 73-year-old man complained at bedtime of “electric shock” sensations, corresponding to myoclonic-like jerks, observed solely in both arms, causing severe insomnia. These involuntary movements appeared at rest and were accompanied by an urge to move that relieved symptoms (video on the Neurology® Web site at Neurology.org). To date, few observations have been reported on arm restlessness and periodic movements of the upper limbs.1,2 This variant shares common features with restless legs syndrome and periodic limb movement disorder, such as therapeutic response to dopaminergic agonists. Clinicians should be aware of restlessness of the upper limbs, which likely remains underdiagnosed and requires appropriate therapeutic management.