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OBJECTIVE This study was undertaken to identify susceptibility loci for cluster headache and obtain insights into relevant disease pathways. METHODS We carried out a genome-wide association study, where 852 UK and 591 Swedish cluster headache cases were compared with 5,614 and 1,134 controls, respectively. Following quality control and imputation, single variant association testing was conducted using a logistic mixed model for each cohort. The 2 cohorts were subsequently combined in a merged analysis. Downstream analyses, such as gene-set enrichment, functional variant annotation, prediction and pathway analyses, were performed. RESULTS Initial independent analysis identified 2 replicable cluster headache susceptibility loci on chromosome 2. A merged analysis identified an additional locus on chromosome 1 and confirmed a locus significant in the UK analysis on chromosome 6, which overlaps with a previously known migraine locus. The lead single nucleotide polymorphisms were rs113658130 (p = 1.92 × 10-17 , odds ratio [OR] = 1.51, 95% confidence interval [CI] = 1.37-1.66) and rs4519530 (p = 6.98 × 10-17 , OR = 1.47, 95% CI = 1.34-1.61) on chromosome 2, rs12121134 on chromosome 1 (p = 1.66 × 10-8 , OR = 1.36, 95% CI = 1.22-1.52), and rs11153082 (p = 1.85 × 10-8 , OR = 1.30, 95% CI = 1.19-1.42) on chromosome 6. Downstream analyses implicated immunological processes in the pathogenesis of cluster headache. INTERPRETATION We identified and replicated several genome-wide significant associations supporting a genetic predisposition in cluster headache in a genome-wide association study involving 1,443 cases. Replication in larger independent cohorts combined with comprehensive phenotyping, in relation to, for example, treatment response and cluster headache subtypes, could provide unprecedented insights into genotype-phenotype correlations and the pathophysiological pathways underlying cluster headache. ANN NEUROL 2021;90:193-202.

Background/Objective Occurrence of post-dural puncture headache (PDPH) after diagnostic lumbar puncture (LP) for idiopathic intracranial hypertension (IIH) may seem very unlikely in clinical practice. Nevertheless, it has been suggested by several studies, mainly in sub-group analyses. We aimed to evaluate the prevalence of PDPH in an IIH population and determine any eventual predictive factors of PDPH occurrence. Methods We conducted a retrospective multiple-center observational study. All newly diagnosed IIH patients who met the International Classification of Headache Disorders (ICHD-3) or the Dandy modified criteria were included from three different French hospitals. They all underwent LP following the same process with the same type of needle. We recorded PDPH occurring within five days after LP, as defined by ICHD-3 criteria. Results Seventy-four IIH patients were recruited, of whom 23 (31%) presented with PDPH. Neither classical risk factors for PDPH such as body mass index, age or gender, nor cerebrospinal fluid opening pressure, or specific IIH features were associated with occurrence of PDPH. Conclusion PDPH can occur after LP in IIH patients. Clinicians should be aware of this possible event during the IIH diagnosis assessment and should not automatically reconsider IIH diagnosis. PDPH prevention using an atraumatic needle and dedicated PDPH treatment seem relevant in IIH patients.

Based on histopathology, Edinburgh diagnostic criteria were proposed to consider a nontraumatic intracerebral lobar hemorrhage (ICH) as related to cerebral amyloid angiopathy (CAA) using the initial computed tomography (CT) scan and the APOE genetic status. We aimed to externally validate the Edinburgh prediction model, excluding the APOE genotyping and based on the modified Boston criteria on the MRI for CAA diagnosis METHODS: We included patients admitted for spontaneous lobar ICH in the emergency department between 2016 and 2019 who underwent noncontrast CT scan and MRI. According to the MRI, patients were classified into the CAA group or into the non-CAA group in the case of other causes of ICH. Two neuroradiologists, blinded to the final retained diagnosis, rated each radiological feature on initial CT scan described in the Edinburgh study on initial CT scan RESULTS: A total of 102 patients were included, of whom 36 were classified in the CAA group, 46 in the non-CAA causes group and 20 of undetermined cause (excluded from the primary analysis). The Edinburgh prediction model, including finger-like projections and subarachnoid extension showed an area under receiver operating characteristic curves (AUC) of 0.760 (95% confidence interval, CI: 0.660-0.859) for the diagnosis of CAA. The AUC reached 0.808 (95% CI: 0.714-0.901) in a new prediction model integrating a third radiologic variable: the ICH cortical involvement.Using the Boston MRI criteria as a final assessment, we provided a new external confirmation of the radiological Edinburgh CT criteria, which are directly applicable in acute settings of spontaneous lobar ICH and further proposed an original 3‑set model considering finger-like projections, subarachnoid extension, and cortical involvement that may achieve a high discrimination performance.

Background: There is no consensus regarding the diagnostic value of cerebrospinal fluid (CSF) Alzheimer’s disease (AD) biomarkers in cerebral amyloid angiopathy (CAA). Objective: To describe the CSF levels of Aβ42, Aβ40, total protein Tau, and phosphorylated-Tau (p-Tau) in a large series of probable CAA patients and to compare with AD patients in order to identify a specific pattern in CAA but also to look for correlations with the neuroimaging profile. Methods: We retrospectively included from 2 French centers probable CAA patients according to modified Boston criteria who underwent lumbar puncture (LP) with CSF AD biomarker quantifications. Two neurologists independently analyzed all MRI sequences. A logistic regression and Spearman’s correlation coefficient were used to identify correlation between MRI and CSF biomarkers in CAA. Results: We included 63 probable CAA and 27 AD patients. Among CAA 50.8% presented with decreased Aβ42 level associated with elevated p-Tau and/or Tau, 34.9% with isolated decreased Aβ42 level and 14.3% patients with normal Aβ42 level. Compared to AD, CAA showed lower levels of Tau (p = 0.008), p-Tau (p = 0.004), and Aβ40 (p = 0.001) but similar Aβ42 level (p = 0.07). No correlation between Aβ42 or Aβ40 levels and neuroimaging was found. Conclusion: CSF biomarkers may improve the accuracy of the modified Boston criteria with altered profile in 85% of the patients fulfilling revised Boston criteria for probable CAA. Aβ40 appears as an interesting selective biomarker in differential diagnosis.

Cluster headache is characterized by recurrent, unilateral attacks of excruciating pain associated with ipsilateral cranial autonomic symptoms. Although a wide array of clinical, anatomical, physiological, and genetic data have informed multiple theories about the underlying pathophysiology, the lack of a comprehensive mechanistic understanding has inhibited, on the one hand, the development of new treatments and, on the other, the identification of features predictive of response to established ones. The first-line drug, verapamil, is found to be effective in only half of all patients, and after several weeks of dose escalation, rendering therapeutic selection both uncertain and slow. Here we use high-dimensional modelling of routinely acquired phenotypic and MRI data to quantify the predictability of verapamil responsiveness and to illuminate its neural dependants, across a cohort of 708 patients evaluated for cluster headache at the National Hospital for Neurology and Neurosurgery between 2007 and 2017. We derive a succinct latent representation of cluster headache from non-linear dimensionality reduction of structured clinical features, revealing novel phenotypic clusters. In a subset of patients, we show that individually predictive models based on gradient boosting machines can predict verapamil responsiveness from clinical (410 patients) and imaging (194 patients) features. Models combining clinical and imaging data establish the first benchmark for predicting verapamil responsiveness, with an area under the receiver operating characteristic curve of 0.689 on cross-validation (95% confidence interval: 0.651 to 0.710) and 0.621 on held-out data. In the imaged patients, voxel-based morphometry revealed a grey matter cluster in lobule VI of the cerebellum (−4, −66, −20) exhibiting enhanced grey matter concentrations in verapamil non-responders compared with responders (familywise error-corrected P = 0.008, 29 voxels). We propose a mechanism for the therapeutic effect of verapamil that draws on the neuroanatomy and neurochemistry of the identified region. Our results reveal previously unrecognized high-dimensional structure within the phenotypic landscape of cluster headache that enables prediction of treatment response with modest fidelity. An analogous approach applied to larger, globally representative datasets could facilitate data-driven redefinition of diagnostic criteria and stronger, more generalizable predictive models of treatment responsiveness., Tso et al. apply complex modelling to data from 708 patients with cluster headache to identify new data-driven clinical subphenotypes and to quantify the predictability of response to verapamil. The results reveal a brain morphometric correlate of treatment responsiveness in lobule VI of the cerebellum.

ObjectivesTo define the characteristics of post-traumatic headache with cluster headache phenotype (PTH-CH) and to compare these characteristics with primary CH.MethodsA retrospective study was conducted of patients seen between 2007 and 2017 in a headache centre and diagnosed with PTH-CH that developed within 7 days of head trauma. A control cohort included 553 patients with primary CH without any history of trauma who attended the headache clinic during the same period. Data including demographics, attack characteristics and response to treatments were recorded.ResultsTwenty-six patients with PTH-CH were identified. Multivariate analysis revealed significant associations between PTH-CH and family history of CH (OR 3.32, 95% CI 1.31 to 8.63), chronic form (OR 3.29, 95% CI 1.70 to 6.49), parietal (OR 14.82, 95% CI 6.32 to 37.39) or temporal (OR 2.04, 95% CI 1.10 to 3.84) location of pain, and presence of prominent cranial autonomic features during attacks (miosis OR 11.24, 95% CI 3.21 to 41.34; eyelid oedema OR 5.79, 95% CI 2.57 to 13.82; rhinorrhoea OR 2.65, 95% CI 1.26 to 5.86; facial sweating OR 2.53, 95% CI 1.33 to 4.93). Patients with PTH-CH were at a higher risk of being intractable to acute (OR 12.34, 95% CI 2.51 to 64.73) and preventive (OR 16.98, 95% CI 6.88 to 45.52) treatments and of suffering from associated chronic migraine (OR 10.35, 95% CI 3.96 to 28.82).ConclusionThis largest series of PTH-CH defines it as a unique entity with specific evolutive profile. Patients with PTH-CH are more likely to suffer from the chronic variant, have marked autonomic features, be intractable to treatment and have associated chronic migraine compared with primary CH.

Background A positive family history predisposes to the development of cluster headache. The distinct characteristics of familial cluster headache have yet to be confirmed, however, evidence suggests a younger age of onset and higher proportion of females in this subgroup. Objectives To assess the rate and mode of inheritance of familial cluster headache in a tertiary referral centre for headache. To describe the clinical features of familial cluster headache. Methods A retrospective study conducted between 2007 and 2017. Cluster headache was confirmed in probands and affected relatives. Differences in demographics, clinical characteristics, and response-to-treatment in familial cluster headache were delineated through multivariate analysis using a control cohort of 597 patients with sporadic cluster headache. Results Familial cluster headache was confirmed in 48 (7.44%) patients and predominantly reflected an autosomal dominant mode of inheritance with reduced penetrance. Familial cases were more likely to report nasal blockage (OR 4.06, 95% CI; 2.600–6.494, p Conclusion These findings add to evidence suggesting a genetic component to cluster headache. Here, we demonstrated prominent nasal blockage, and a higher occurrence of concomitant short-lasting unilateral neuralgiform headache with conjunctival injection and tearing in this subgroup, further delineating the phenotype.

Moyamoya angiopathy is a rare vasculopathy with stenosis and/or occlusion of bilateral intracranial parts of internal carotid arteries and/or proximal parts of middle and anterior cerebral arteries. PHACE syndrome is characterized by large segmental hemangiomas in the cervical-facial region. Both conditions are known to be associated in rare cases. Recently, it was discussed in the literature that RNF213 variants could be etiologically involved in this association. Here, we describe a childhood case with this rare co-occurrence in which we did not identify any rare RNF213 variant. The clinical and genetic backgrounds are discussed.

Background and Purpose Moyamoya angiopathy (MMA) is a rare cerebral vasculopathy outside of Asia. In Japanese patients, a vast majority of patients carry the founder p.R4810K variant in the RNF213 gene, and familial cases are around 10%. In European patients, data about familial occurrence are limited. The aim of this study was to characterize the clinical and molecular features of several European families with a parent-to-child transmission of MMA. Methods Out of 126 MMA probands referred, we identified 113 sporadic probands and 13 familial probands. Segregation analysis showed a vertical parent-to-child pattern of inheritance in the families of 5 of these probands. All 5 families were of German or Dutch ancestry. We investigated the clinical features of affected members and used whole-exome sequencing to screen RNF213 and 13 genes involved in Mendelian MMA and to identify genes recurrently mutated in these families. Results Twelve affected MMA patients were identified, including 9 females and 3 males. Age at clinical onset ranged from 11 to 65 years. In 3 of 5 families, associated livedo racemosa was found. We did not detect any deleterious variants in the 13 known MMA genes. RNF213 rare missense variants predicted to be pathogenic were detected in all affected members of 2 of these families, as well as 2 candidate variants of the PALD1 gene. Conclusions Nonsyndromic MMA was identified in 5 European families, including 2 to 3 clinically affected cases segregating with a parent-to-child pattern of inheritance in each family. Molecular screening detected rare deleterious variants within RNF213 and PALD1 in all affected members of 2 of these 5 families, as well as in some clinically unaffected members. Altogether these data raise the difficult and, to date unanswered, question of the medical indication of presymptomatic screening.

Objective To determine the prevalence and clinical predictors of pituitary adenomas in cluster headache patients, in order to determine the necessity of performing dedicated pituitary magnetic resonance imaging in patients with cluster headache. Methods A retrospective study was conducted of all consecutive patients diagnosed with cluster headache and with available brain magnetic resonance imaging between 2007 and 2017 in a tertiary headache center. Data including demographics, attack characteristics, response to treatments, results of neuroimaging, and routine pituitary function tests were recorded. Results Seven hundred and eighteen cluster headache patients attended the headache clinic; 643 underwent a standard magnetic resonance imaging scan, of whom 376 also underwent dedicated pituitary magnetic resonance imaging. Pituitary adenomas occurred in 17 of 376 patients (4.52%). Non-functioning microadenomas (n = 14) were the most common abnormality reported. Two patients, one of whom lacked the symptoms of pituitary disease, required treatment for their pituitary lesion. No clinical predictors of those adenomas were identified after multivariate analysis using random forests. Systematic pituitary magnetic resonance imaging scanning did not benefit even a single patient in the entire cohort. Conclusion The prevalence of pituitary adenomas in cluster headache is similar to that reported in the general population, thereby precluding an over-representation of pituitary lesions in cluster headache. We conclude that the diagnostic assessment of cluster headache patients should not include specific pituitary screening. Only patients with standard brain magnetic resonance imaging findings or symptoms suggestive of a pituitary disorder require brain magnetic resonance imaging with dedicated pituitary views.

Migraine may be a factor of increased cerebral sensitivity to ischemia. Previous studies were conducted within 6 to 72 after stroke onset. We aimed to determine if an accelerated infarct growth exists in migraine patients within the first 4.5 h.A retrospective case-control study was conducted where all patients admitted for acute stroke started4.5 h before and who underwent perfusion CT were assessed. The hypoperfusion and necrosis volumes on initial CT perfusion were analyzed, as well as the final infarct volume on MRI performed within 72 h after admission. A no-mismatch pattern was defined as a ratio necrosis/hypoperfusion volume 83%.24 patients with personal history of migraine were identified, 8 of them with aura. The control cohort included 51 patients. No difference was found between groups in terms of demographics, initial severity or outcome or presumed cause of stroke. Mean time to CT scan was 125 min in migraine patients and 127 min in the control group. A no-mismatch pattern was equally found in migraine patients and controls, even after adjustment for age, sex and presence of proximal occlusion (p = .22). The final infarct volume was also similar in both groups.Migraine patients did not display more no-mismatch pattern than controls within the 4.5 h of stroke onset. This deviates from previous studies and may be due to our earlier time from stroke onset to CT scan. A history of migraine may lead to malignant progression of ischemia but occurring only after several hours.

Background and ObjectiveTo report a triplication of the amyloid-β precursor protein (APP) locus along with relative messenger RNA (mRNA) expression in a family with autosomal dominant early-onset cerebral amyloid angiopathy (CAA) and Alzheimer disease (AD).MethodsFour copies of the APP gene were identified by quantitative multiplex PCR of short fluorescent fragments, fluorescent in situ hybridization (FISH), and array comparative genomic hybridization. APP mRNA levels were assessed using reverse-transcription–digital droplet PCR in the proband's whole blood and compared with 10 controls and 9 APP duplication carriers.ResultsBeginning at age 39 years, the proband developed severe episodic memory deficits with a CSF biomarker profile typical of AD and multiple lobar microbleeds in the posterior regions on brain MRI. His father had seizures and recurrent cerebral hemorrhage since the age of 37 years. His cerebral biopsy showed abundant perivascular amyloid deposits, leading to a diagnosis of CAA. In the proband, we identified 4 copies of a 506-kb region located on chromosome 21q21.3 and encompassing the whole APP gene without any other gene. FISH suggested that the genotype of the proband was 3 copies/1 copy corresponding to an APP locus triplication, which was consistent with the presence of 2 APP copies in the healthy mother and with the paternal medical history. Analysis of the APP mRNA level showed a 2-fold increase in the proband and a 1.8 fold increase in APP duplication carriers compared with controls.DiscussionIncreased copy number of APP is sufficient to cause AD and CAA, with likely earlier onset in case of triplication compared with duplication.

Cerebral venous thrombosis (CVT) is an underdiagnosed complication of head trauma. To date, initiation of anticoagulation is still a matter of debate because of the risk of worsening traumatic hemorrhage. This report describes a case series of five patients admitted for head injury complicated by CVT. The main associated radiological signs were skull fractures crossing the venous sinus and adjacent traumatic hematoma. In four patients, anticoagulation was introduced within 48-72h of CVT diagnosis, with no subsequent hemorrhagic complications. The present report and data from the literature raise the question of systematic additional venoscans when confronted by associated radiological features of post-traumatic CVT. The safety of anticoagulation in selected patients is also discussed.

The benefits of thrombolysis in patients presenting with acute ischemic stroke (IS) are highly time-dependent. The aim of our study was to evaluate the clinical benefit, after 3 months, of an intrahospital mobile thrombolysis team (MTT) for thrombolysis in IS.A total of 95 consecutive patients treated with IV tPA for acute IS at the neurology department of Rouen University Hospital between 1 January and 31 December 2015 were retrospectively identified. Patients who had benefited from mechanical thrombectomy or hemicraniectomy were excluded. The study compared 33 patients who had benefited from our MTT (thrombolysis whatever the location and as soon as possible by a specific nurse) with 62 patients treated in the usual way (thrombolysis only at the stroke unit). Management timescales, inhospital and 3-month clinical outcomes, and imaging data were also compared between the two groups.Demographic data and factors known to influence the clinical course after thrombolysis were similar between the two groups (P0.05). However, use of the MTT allowed significant decreases in the median onset-to-treatment (OTT) time of 26min and median door-to-needle (DTN) time of 27min (P0.001). The proportion of patients with a DTN time60min was higher in the MTT group than in the usual care (UC) group: 64% vs. 14%, respectively (P0.001), according to American Heart Association/American Stroke Association guidelines. Although there was a smaller proportion of negative 3-month outcomes (modified Rankin Scale score: 6; 6% vs. 16%) and a larger proportion of highly favorable 3-month outcomes (mRS score: 0-1; 79% vs. 64%) in the MTT vs. UC groups, respectively, these differences were not statistically significant (P0.05).Use of an MTT is a simple way to reduce thrombolysis delays, and the present results encourage us to improve the system to make it even more effective and available for all patients.

We report a case of familial trigeminal neuralgia (TN) and Charcot-Marie-Tooth disease (CMT) caused by an identified MPZ mutation with a review of previous cases described in the literature. Background The association of TN in CMT patients has previously been reported in a few cases. The pathophysiological link can be detailed with recent use of genetic analysis in CMT. Methods We report a large family including 7 members affected by CMT, 4 of whom also presented with TN. We then performed a literature review of literature by search of Pubmed from 1950 to September 2018, using the search terms "trigeminal neuralgia" and "Charcot-Marie-Tooth" and the references of relevant articles. Results Overall, we found 29 previously published TN cases in 12 CMT families. Among them, only 7 families (69%) included several affected members, suggesting that not all mutations involved in CMT predispose to TN. TN in this context seems to present with specific characteristics, including earlier age of onset, bilateral presentation, and poor tolerance to preventive treatments with gait disturbance exacerbated by the underlying neuropathy. Conclusion This report of familial TN in CMT with identified MPZ mutation highlighted specific characteristics of this association. Considered as a rare association in the literature, it may be underestimated and the clinician should be aware of its specific pattern, including earlier age of onset, bilateral presentation, and poor tolerance to preventive treatments.

Cervical artery dissection is a frequent cause of stroke, more so in young patients. Innominate artery (IA) dissection is uncommon, and most often associated with dissection of other major arteries like the aorta. The leading cause of IA injury is high-energy thoracic trauma, as in motor vehicle crash. IA dissection after blunt trauma is rare. We described here the unusual case and iconography of an isolated IA dissection after rifle recoil initially presenting as a stroke.

La Presse Medicale - In Press.Proof corrected by the author Available online since jeudi 18 aout 2016

Bath-related thunderclap headache (BRTH) is a rare entity, closed to reversible cerebral vasoconstriction syndrome. It is only described in middle-aged women and mainly Asiatic ethnic origins. Role of estrogen is consequently discussed. We report here a case of a 36-year-old man, admitted for five episodes of thunderclap headaches, triggered by hot shower. This is the first male case of BRTH, opposing only a hormonal hypothesis. Furthermore, this African patient consolidates the non-exclusivity of this affection to Asian ethnic origins.

International audience

International audience

Background There is little experience with the effect of pregnancy on Parkinson disease because the number of women with Parkinson disease who are of childbearing age is small. We report four cases beginning during the postpartum period and discuss the potential contribution of different factors that may influence the occurrence of Parkinson disease in this time period. Cases Four women aged 29-35 years developed arm tremor, shoulder pain, dizziness, or decreased dexterity of the hand in the first few days or months after childbirth. They were initially diagnosed with postpartum depression or psychogenic parkinsonism. Finally, dopamine transporter imaging confirmed the diagnosis of young-onset Parkinson disease. Conclusion Early-onset Parkinson disease may present in postpartum women. In women with atypical motor symptoms in addition to depression, this diagnosis should be considered.

Background Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part of the internal carotid arteries and the development of abnormal collateral deep vessels. Its pathophysiology is unknown. MMA can be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions (moyamoya syndrome) including some Mendelian diseases. We aimed to investigate the genetic basis of moyamoya using a whole exome sequencing (WES) approach conducted in sporadic cases without any overt symptom suggestive of a known Mendelian moyamoya syndrome. Methods A WES was performed in four unrelated early-onset moyamoya sporadic cases and their parents (trios). Exome data were analysed under dominant de novo, autosomal recessive and X-linked hypotheses. A panel of 17 additional sporadic cases with early-onset moyamoya was available for mutation recurrence analysis. Results We identified two germline de novo mutations in CBL in two out of the four trio probands, two girls presenting with an infancy-onset severe MMA. Both mutations were predicted to alter the ubiquitin ligase activity of the CBL protein that acts as a negative regulator of the RAS pathway. These two germline CBL mutations have previously been described in association with a developmental Noonan-like syndrome and susceptibility to juvenile myelomonocytic leukaemia (JMML). Notably, the two mutated girls never developed JMML and presented only subtle signs of RASopathy that did not lead to evoke this diagnosis during follow-up. Conclusions These data suggest that CBL gene screening should be considered in early-onset moyamoya, even in the absence of obvious signs of RASopathy.

International audience; BACKGROUND AND OBJECTIVES:The symptomatic status of unruptured aneurysms has to be looked for. The objective of this retrospective case-control study was to identify the headache semiologic characteristics of symptomatic aneurysms during the 3 months prior to patient admission.PATIENTS AND METHODS:The case cohort was composed of 40 consecutive patients admitted for the treatment of a ruptured intracranial aneurysm (IA) and able to answer a standardized questionnaire by the same neurologist. This cohort was matched with a control cohort of 40 patients operated on for a degenerative lumbar pathology. This questionnaire, using the criteria for headache characteristics according to the International Headache Society (IHS) enabled us to classify headaches during the previous 3 months prior to the rupture (study period) and during the year prior to the period studied (reference period) in both cohorts. Headache status was considered as unstable if there were modifications of semiologic headache characteristics, thunderclap headaches or de novo headaches, or on the contrary stable.RESULTS:During the status period, chronic headaches were reported by 31 patients (77.5%) in the studied cohort and 35 (87.5%) in the control cohort. During the study period, the cephalagia status was stable in 19 patients (47.5%) versus 35 patients (87.5%) in the control cohort (P

International audience; A 29-year-old man was admitted for acute cognitive impairment. Three weeks earlier, he had been admitted for coma due to sniffed heroin abuse responsive to naloxone infusion. At admission, the patient presented with apraxia, severe memory impairment and anosognosia. Brain MRI revealed symmetric hyperintensities of supratentorial white matter, sparing brainstem and cerebellum, on FLAIR and B1000 sequences. Four months later, repeated neuropsychological assessment revealed dramatic improvement of global cognitive functions. Toxic leucoencephalopathy excluding the cerebellum and brainstem is a rare complication of heroin abuse, and seems to concern especially patients that use heroin by sniff or injection. In these patients, cognitive troubles are predominant, prognosis seems better and infratentorial brain structures can be spared. In conclusion, our observation emphasizes that heroin-induced encephalopathy can have a favourable outcome and that imaging and clinical patterns can indicate the mode of drug administration.

Bath-related thunderclap headache (BRTH) is a rare entity, closed to reversible cerebral vasoconstriction syndrome. It is only described in middle-aged women and mainly Asiatic ethnic origins. Role of estrogen is consequently discussed. We report here a case of a 36-year-old man, admitted for five episodes of thunderclap headaches, triggered by hot shower. This is the first male case of BRTH, opposing only a hormonal hypothesis. Furthermore, this African patient consolidates the non-exclusivity of this affection to Asian ethnic origins.

BACKGROUND: Total Tau concentration in cerebrospinal fluid (CSF) is widely used as a biomarker in the diagnosis of neurodegenerative process primarily in Alzheimer's disease (AD). A particularly high Tau level may indicate AD but may also be associated with Creutzfeldt-Jakob disease (CJD). In such situations little is known about the distribution of differential diagnoses. OBJECTIVE: Our study aimed to describe the different diagnoses encountered in clinical practice for patients with dementia and CSF Tau levels over 1000 pg/ml. We studied the p-Tau/Tau ratio to specify its ability to distinguish AD from CJD. METHODS: Patients (n = 202) with CSF Tau levels over 1000 pg/ml were recruited in three memory clinics in France. All diagnoses were made using the same diagnostic procedure and criteria. RESULTS: Patients were diagnosed with AD (n = 148, 73.2%), mixed dementia (n = 38, 18.8%), CJD, vascular dementia (n = 4, 2.0% for each), Lewy body dementia, and frontotemporal dementia (n = 3, 1.5% for each). Dispersion of CSF Tau levels clearly showed an overlap between all diagnoses. Using the p-Tau/Tau ratio suggestive of CJD (

Introduction La proteine Tau dans le LCR est un biomarqueur utilise pour diagnostiquer les maladies neurodegeneratives et principalement la maladie d’Alzheimer (MA). Un dosage eleve peut evoquer une MA mais aussi une maladie de Creutzfeldt-Jakob (MCJ). Objectifs L’objectif etait de decrire la repartition des diagnostics rencontres chez des patients atteints de demence avec Tau > 1000 pg/mL. L’interet du ratio Phospho-Tau/Tau pour distinguer les MA des MCJ a ensuite ete etudie. Patients et methodes Deux cent deux patients ayant beneficie d’une ponction lombaire avec Tau > 1000 pg/mL ont ete recrutes au sein de 3 centres memoire francais (Lille, Rouen, Paris-Lariboisiere) Les modalites diagnostiques, les criteres utilises et les processus analytiques etaient identiques dans chaque centre. Le diagnostic final reposait sur un consensus multidisciplinaire impliquant au minimum deux neurologues et un biochimiste. Resultats Les diagnostics etaient : 148 MA (72,2 %), 40 demences mixtes, 4 MCJ et 4 demences vasculaires (2,0 %), 3 demences a corps de Lewy et 3 demences lobaires frontotemporales. Le dosage seul de Tau etait peu discriminant. En revanche, le ratio p-Tau/Tau Discussion La MA et la demence mixte representent plus de 92 % des cas de demence avec Tau elevee. Bien que ce dosage eleve soit frequemment decrit comme associe a la MCJ, celle-ci ne represente que 2 % de notre cohorte. En utilisant le ratio p-Tau/Tau, la valeur de 0,075 permettait d’identifier 100 % des MCJ et 98 % des MA. Conclusion Notre etude suggere une interpretation des biomarqueurs du LCR en 2 etapes En cas de dosage eleve de Tau, le clinicien pourra utiliser le ratio p-Tau/Tau En dessous de 0,075, une MCJ doit etre consideree.

Introduction La carmustine (Gliadel), chimiotherapie topique est un traitement adjuvant a la chirurgie dans le cadre des glioblastomes. Elle permet d’augmenter la survie mais s’accompagne d’effets indesirables, notamment infectieux. Observation Nous rapportons le cas d’un patient de 59 ans opere d’une recidive de glioblastome multiforme parietal gauche avec mise en place de pastilles de Gliadel in situ. Ce patient a presente, a 1 mois de sa chirurgie, une majoration de son hemiparesie droite revelant une volumineuse lesion kystique en regard de la cavite operatoire. Une IRM cerebrale a ete realise en urgence devant une suspicion d’abces cerebral. Celle-ci, ne retrouvant pas de restriction sur les sequences de diffusion, etait en faveur d’un kyste inflammatoire reactionnel. L’evolution a ete favorable a 1 mois sur le plan clinique et radiologique apres corticotherapie a forte dose pendant 21 jours. Discussion La delivrance in situ du Gliadel se fait principalement pendant les 7 premiers jours et permet de s’affranchir du risque de faible permeabilite de la barriere hemato-encephalique (BHE). Neanmoins, il faut etre attentif aux complications que sont les abces cerebraux dans 7 % des cas, le retard de cicatrisation et la formation rare de kystes postoperatoires liee a la rupture de BHE. Conclusion La formation de kyste reactionnel est une complication peu rapportee de la carmustine. Son traitement est avant tout medical, par corticoides, mais peut necessiter une reintervention.