Publications by authors named "Jean-Philippe Neau"

56 Publications

Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.

Brain 2021 Jul 16. Epub 2021 Jul 16.

AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, France.

Heterozygous missense HTRA1 mutations have been associated with an autosomal dominant cerebral small vessel disease whereas the pathogenicity of heterozygous HTRA1 stop codon variants is unclear. We performed a targeted high throughput sequencing of all known cerebral small vessel disease genes, including HTRA1, in 3,853 unrelated consecutive CSVD patients referred for molecular diagnosis. The frequency of heterozygous HTRA1 mutations leading to a premature stop codon in this patient cohort was compared with their frequency in large control databases. An analysis of HTRA1 messenger RNA was performed in several stop codon carrier patients. Clinical and neuroimaging features were characterized in all probands. Twenty unrelated patients carrying a heterozygous HTRA1 variant leading to a premature stop codon were identified. A highly significant difference was observed when comparing our patient cohort with control databases (gnomAD v3.1.1 (p = 3.12 x 10-17, OR = 21.9), TOPMed freeze 5 (p = 7.6 x 10-18, OR = 27.1) and 1000 Genomes (p = 1.5 x 10-5). Messenger RNA analysis performed in eight patients showed a degradation of the mutated allele strongly suggesting a haploinsufficiency. Clinical and neuroimaging features are similar to those previously reported in heterozygous missense mutation carriers, except for penetrance, which seems lower. Altogether, our findings strongly suggest that heterozygous HTRA1 stop codons are pathogenic through a haploinsufficiency mechanism. Future work will help to estimate their penetrance, an important information for genetic counseling.
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http://dx.doi.org/10.1093/brain/awab271DOI Listing
July 2021

Predictors of Early Stroke or Death in Patients Undergoing Transcatheter Aortic Valve Implantation.

J Stroke Cerebrovasc Dis 2021 Aug 12;30(8):105912. Epub 2021 Jun 12.

Department of Neurology, CHU La Milétrie, Poitiers, France and University of Poitiers, France.

Background/objective: While postoperative stroke is a known complication of Transcatheter Aortic Valve Implantation (TAVI), predictors of early stroke occurrence have not been specifically reviewed. The objective of this study was to estimate the predictors and incidence of stroke during the first 30 days post-TAVI.

Methods: A cohort of 506 consecutive patients having undergone TAVI between January 2017 and June 2019 was extracted from a prospective database. Preoperative, intraoperative and postoperative characteristics were analyzed by univariate analysis followed by logistic regression to find predictors of the occurrence of stroke or death within the first 30 days after the procedure.

Results: Incidence of stroke within 30 days post-TAVI was 4.9%, [CI 95% 3.3-7.2], i.e., 25 strokes. Four out of the 25 patients (16%) with a stroke died within 30 days post-TAVI. After logistic regression analysis, the predictors of early stroke related to TAVI were: CHA2Ds2VASc score ≥ 5 (odds ratio [OR] 2.62; 95% CI: 1.06-6.49; p = .037), supra-aortic access vs. femoral access (OR: 9.00, 95%CI: 2.95-27.44; p = .001) and introduction post-TAVI of a single vs. two or three antithrombotic agents (OR: 5.13; CI 95%: 1.99 to 13.19; p = .001). Over the 30-day period, bleeding occurred in 28 patients (5.5%), in 25 of whom, it was associated with femoral or iliac artery access injury. Anti-thrombotic regimen was not associated with bleeding; two patients out of 48 (4.1%) bled with a single anti-thrombotic regimen vs. 26 patients out of 458 (5.6%) with a dual or triple anti-thrombotic regimen (p = 0.94). The overall 30-day mortality rate was 3.9%, [95% CI 2.5-6.0]. Patients with a single post-TAVI antithrombotic agent (OR: 44.07 [CI 95% 13.45-144.39]; p < .0001) and patients with previous coronary artery bypass surgery or coronary artery stenting (OR: 6.16, [CI 95% 1.99-21.29]; p = .002) were at significantly higher risk of death within the 30-day period.

Conclusion: In this large-scale single-center retrospective study, a single post-TAVI antithrombotic regimen independently predicted occurrence of early stroke or death. Dual or triple antithrombotic regimen was not associated with a higher risk of bleeding and should be considered as an option in patients undergoing TAVI.
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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2021.105912DOI Listing
August 2021

Sleep deprivation reduces vagal tone during an inspiratory endurance task in humans.

Sleep 2021 Apr 25. Epub 2021 Apr 25.

Centre d'Investigation Clinique Inserm, Team Acute Lung Injury and VEntilatory support, Centre Hospitalier Universitaire de Poitiers, France.

Study Objectives: Sleep deprivation alters inspiratory endurance by reducing inspiratory motor output. Vagal tone is involved in exercise endurance. This study aimed to investigate the effect of sleep deprivation on vagal tone adaptation in healthy subjects performing an inspiratory effort.

Methods: Vagal tone was assessed using Heart Rate Variability normalized units of frequency domain component HF (high frequency) before, at the start, and the end of an inspiratory loading trial performed until exhaustion by 16 volunteers after one night of sleep deprivation and one night of normal sleep, where sleep deprivation reduced the inspiratory endurance by half compared to the normal sleep condition (30min vs 60 min).

Results: At rest, heart rate was similar in sleep deprivation and normal sleep conditions. In normal sleep condition, heart rate increased during inspiratory loading task; this increase was greater in sleep deprivation condition. In normal sleep condition, vagal tone increased at the beginning of the trial. This vagal tone increase was absent in sleep deprivation condition.

Conclusions: Sleep deprivation abolished vagal tone response to inspiratory load, possibly contributing to a higher heart rate during the trial and to a reduced inspiratory endurance.
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http://dx.doi.org/10.1093/sleep/zsab105DOI Listing
April 2021

Procedural Learning Improves Cognition in Multiple Sclerosis.

J Alzheimers Dis 2020 ;74(3):913-924

Emeriti Professor of Neurology, University Hospital, Poitiers, France.

Background: Multiple sclerosis (MS) is considered a neurodegenerative disease and an inflammatory demyelinating neuropathology in young population. Procedural memory has been poorly investigated in MS.

Objective: We assessed whether the MS group was able to develop a motor-cognitive skill, using a procedural task (PLSC) developed in our laboratory, applying a manual and serial reaction time (RT) paradigm to semantic categorization.

Methods: We evaluated 26 MS patients and 26 socio-demographic matched control participants using the PLSC task.

Results: Using non-parametric statistical analyses, we observed a significant improvement of semantic categorization RTs with practice (p = 0.002), even with new verbal material to categorize in MS patients (p = 0.006), despite their motor and executive moderate deficits. This same profile of semantic procedural learning in MS was observed in previous studies carried out with Alzheimer's and Parkinson's diseases. Moreover, the visual-motor RTs remained stable or slightly improved over the five blocks in both groups, as well as in the AD groups of previous studies. The MS group showed longer visual-motor reaction times than those of the control group (p < 0.042), except in motor initiation aspect (p = 0.064). Both groups showed no significant differences for any type of error. Additionally, disability level and cognitive performances were not associated with the ratio of semantic procedural learning.

Conclusion: The present results support the notion that MS patients may be capable of acquiring semantic skill, despite their motor disabilities and executive troubles. This work also addresses the possibilities to improve motor-cognitive skill RTs in neurodegenerative diseases.
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http://dx.doi.org/10.3233/JAD-191083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7242853PMC
April 2021

Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.

J Hum Genet 2020 Jan 23;65(2):91-98. Epub 2019 Oct 23.

INSERM UMR_S 1256, NGERE-Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre for Inherited Metabolic Diseases (ORPHA67872), University Hospital of Nancy and Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.

Hereditary spastic paraplegias (HSPs) are characterized by lower extremity spasticity and weakness. HSP is often caused by mutations in SPG genes, but it may also be produced by inborn errors of metabolism. We performed next-generation sequencing of 4813 genes in one adult twin pair with HSP and severe muscular weakness occurring at the same age. We found two pathogenic compound heterozygous variants in MTHFR, including a variant not referenced in international databases, c.197C>T (p.Pro66Leu) and a known variant, c.470G>A (p.Arg157Gln), and two heterozygous pathogenic variants in POLG, c.1760C>T (p.Pro587Leu) and c.752C>T (p.Thr251Ile). MTHFR and POLG mutations were consistent with the severe muscle weakness and the metabolic changes, including hyperhomocysteinemia and decreased activity of both N(5,10)methylenetetrahydrofolate reductase (MTHFR) and complexes I and II of the mitochondrial respiratory chain. These data suggest the potential role of MTHFR and POLG mutations through consequences on mitochondrial dysfunction in the occurrence of spastic paraparesis phenotype with combined metabolic, muscular, and neurological components.
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http://dx.doi.org/10.1038/s10038-019-0689-yDOI Listing
January 2020

H- P magnetic resonance spectroscopy: effect of biotin in multiple sclerosis.

Ann Clin Transl Neurol 2019 07 27;6(7):1332-1337. Epub 2019 Jun 27.

DACTIM-MIS Team - LMA CNRS 7348, Poitiers University Medical Center, Poitiers Cedex, France.

Biotin is thought to improve functional impairment in progressive multiple sclerosis (MS) by upregulating bioenergetic metabolism. We enrolled 19 patients suffering from progressive MS (5 primary and 14 secondary Progressive-MS). Using cerebral multinuclear magnetic resonance spectroscopy (MMRS) and clinical evaluation before and after 6 months of biotin cure, we showed significant modifications of: PME/PDE, ATP, and lactate resonances; an improvement of EDSS Neuroscore. Our results are consistent with metabolic pathways concerned with biotin action and could suggest the usefulness of MMRS for monitoring.
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http://dx.doi.org/10.1002/acn3.50825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6649368PMC
July 2019

Transcranial Doppler to detect right-to-left shunt in cryptogenic acute ischemic stroke.

Brain Behav 2019 01 1;9(1):e01091. Epub 2018 Dec 1.

Department of Neurology, Poitiers University Hospital, Poitiers Cedex, France.

Objectives: We aimed to confirm the sensitivity and specificity of contrast transcranial Doppler (cTCD) in the detection of right-to-left shunt (RLS) compared to the current reference standard (i.e., transesophageal echocardiography-TEE) in patients aged <55 years with a cryptogenic acute ischemic stroke (AIS) or high-risk (ABCD score ≥4) transient ischemic attack (TIA), and to calculate the real life delay in detecting RLS by cTCD versus TEE in a tertiary care academic stroke center.

Methods: Consecutive 16- to 54-year-old patients with AIS or high-risk TIA underwent complete diagnostic workup which included, in case of undetermined etiology, cTCD and TEE. Sensitivity and specificity of cTCD, RLS characteristics, and median delay between the two tests were calculated.

Results: Of the 98 included patients, 52 (53%) had a cryptogenic cerebrovascular ischemic event, which displayed a 56% prevalence of RLS related to a patent foramen ovale (PFO) mainly with a high-grade shunt. When comparing TCD with "bubble test" to TEE, sensitivity and specificity were both 100%. Median delays from symptom onset to examination were 2 (min-max 1-10) and 21 (min-max 1-60) days, respectively, for cTCD and TEE. No adverse event occurred during or after cTDC examination.

Conclusions: Transcranial Doppler with "bubble test" appears as the best screening test for the detection of RLS in young and middle-aged adults with cryptogenic acute cerebral ischemic events to select patients potentially suitable for closure procedure after TEE confirmation.
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http://dx.doi.org/10.1002/brb3.1091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346730PMC
January 2019

The coexistence of recurrent cerebral tumefactive demyelinating lesions with longitudinally extensive transverse myelitis and demyelinating neuropathy.

Mult Scler Relat Disord 2019 Jan 3;27:223-225. Epub 2018 Nov 3.

Department of Neurology, CHU Montpellier, 80 avenue Augustin Fliche, Montpellier 34000, France.

Combined central and peripheral demyelination (CCPD) is a rare chronic inflammatory disorder of the nervous system. In this article, we report on a CCPD patient with a very unusual pattern of central demyelination, comprising recurrent cerebral tumefactive demyelinating lesions (three times, each one in a new area of the brain) and one episode of longitudinally extensive transverse myelitis. This patient could not be classified as having multiple sclerosis, or neuromyelitis optica spectrum disorder, or any other well-known inflammatory disorder of the central nervous system, associated with demyelinating neuropathy. A diagnosis of idiopathic inflammatory demyelinating disorder (IIDD) was made while waiting for more knowledge concerning the diseases currently characterized as IIDD.
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http://dx.doi.org/10.1016/j.msard.2018.11.002DOI Listing
January 2019

Neuromyelitis optica spectrum disorder mimicking extensive leukodystrophy.

Mult Scler 2018 08 20;24(9):1256-1258. Epub 2018 Apr 20.

Department of Neurology, CHU Poitiers, Poitiers, France.

Brain MRI was originally considered to appear normal in neuromyelitis optica spectrum disorders (NMO-SD). Typical brain lesions are now well described and have been integrated in the latest revision of NMO-SD criteria, but the NMO-SD MRI pattern remains not yet comprehensive. We report here extensive white matter lesions (EWML) mimicking leukodystrophy in a 50-year-old woman with long-lasting anti-AQP4+ NMO-SD. We suggest that EWML could be a possible brain MRI presentation of NMO-SD patients.
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http://dx.doi.org/10.1177/1352458517743092DOI Listing
August 2018

Peripheral nervous system involvement in Leber's hereditary optic neuropathy.

J Neurol Sci 2018 05 2;388:94-96. Epub 2018 Mar 2.

Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin Hospital), University of Bordeaux, Place Amélie Raba-Léon, 33000 Bordeaux, France. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.03.002DOI Listing
May 2018

Controlled Education of patients after Stroke (CEOPS)- nurse-led multimodal and long-term interventional program involving a patient's caregiver to optimize secondary prevention of stroke: study protocol for a randomized controlled trial.

Trials 2018 Feb 22;19(1):137. Epub 2018 Feb 22.

University Lille, Inserm, CHU, U1171 'Degenerative and vascular cognitive disorders', F-59000, Lille, France.

Background: Setting up a follow-up secondary prevention program after stroke is difficult due to motor and cognitive impairment, but necessary to prevent recurrence and improve patients' quality of life. To involve a referent nurse and a caregiver from the patient's social circle in nurse-led multimodal and long-term management of risk factors after stroke could be an advantage due to their easier access to the patient and family. The aim of this study is to compare the benefit of optimized follow up by nursing personnel from the vascular neurology department including therapeutic follow up, and an interventional program directed to the patient and a caregiving member of their social circle, as compared with typical follow up in order to develop a specific follow-up program of secondary prevention of stroke.

Methods/design: The design is a randomized, controlled, clinical trial conducted in the French Stroke Unit of the Strokavenir network. In total, 410 patients will be recruited and randomized in optimized follow up or usual follow up for 2 years. In both group, patients will be seen by a neurologist at 6, 12 and 24 months. The optimized follow up will include follow up by a nurse from the vascular neurology department, including therapeutic follow up, and a training program on secondary prevention directed to the patient and a caregiving member of their social circle. After discharge, a monthly telephone interview, in the first year and every 3 months in the second year, will be performed by the nurse. At 6, 12 and 24 month, the nurse will give the patient and caregiver another training session. Usual follow up is only done by the patient's general practitioner, after classical information on secondary prevention of risk factors during hospitalization. The primary outcome measure is blood pressure measured after the first year of follow up. Blood pressure will be measured by nursing personnel who do not know the group into which the patient has been randomized. Secondary endpoints are associated mortality, morbidity, recurrence, drug side-effects and medico-economic analysis.

Discussion: The result of this trial is expected to provide the benefit of a nurse-led optimized multimodal and long-term interventional program for management of risk factors after stroke, personalizing the role of the nurse and including the patient's caregiver.

Trial Registration: ClinicalTrials.gov, NCT 02132364. Registered on 7 May 2014. EUDRACT, A 00473-40.
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http://dx.doi.org/10.1186/s13063-018-2483-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824577PMC
February 2018

Should We Screen for Janus Kinase 2 V617F Mutation in Cerebral Venous Thrombosis?

Cerebrovasc Dis 2017 14;44(3-4):97-104. Epub 2017 Jun 14.

Department of Neurology, S. Giovanni Calibita-Fatebenefratelli Hospital, Rome, Italy.

Background: The presence of Janus Kinase 2 (JAK2) V617F mutation represents a major diagnostic criterion for detecting myeloproliferative neoplasms (MPN) and even in the absence of overt MPN, JAK2 V617F mutation is associated with splanchnic vein thrombosis. However, the actual prevalence and diagnostic value of the JAK2 V617F mutation in patients with cerebral venous thrombosis (CVT) are not known. The aims of this study were to assess the prevalence of JAK2 V617F mutation in a large group of consecutive CVT patients, to detect clinical, biological, and radiological features associated with the mutation, and to determine the long-term venous thrombosis recurrence rate in CVT patients with JAK2 mutation but without overt MPN in order to recommend the best preventive treatment.

Methods: This was a prospective study conducted on consecutive patients with a first-ever radiologically confirmed CVT. JAK2 V617F mutation analysis was assessed in all the study subjects. JAK2 V617F-positive patients were followed up to detect new venous thrombotic events.

Results: Of the 125 included subjects, 7 were found to have JAK2 V617F mutation (5.6%; 95% CI 2.3-11.2). Older age (p = 0.039) and higher platelet count (p = 0.004) were independently associated with JAK2 V617F positivity in patients without overt MPN. During a mean follow-up period of 59 (SD 46) months, 2 JAK2 V617F-positive patients presented with 4 new venous thromboembolic events.

Conclusions: Screening for the JAK2 V617F mutation in CVT patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVT because of its relatively high prevalence and the risk of thrombosis recurrence.
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http://dx.doi.org/10.1159/000471891DOI Listing
June 2018

Venous Thrombotic Recurrence After Cerebral Venous Thrombosis: A Long-Term Follow-Up Study.

Stroke 2017 Feb 15;48(2):321-326. Epub 2016 Dec 15.

From the Department of Neurology, Poitiers University Hospital and University of Poitiers, France (P.P., P.A., J.C., M.L., A.B., P.C., J.-P.N.); Department of Neurology, S. Giovanni Calibita-Fatebenefratelli Hospital, Rome, Italy (P.P.); and Clinical Investigation Center INSERM CIC-P 802, Poitiers University Hospital, France (P.I.).

Background And Purpose: After cerebral venous thrombosis (CVT), the risk of venous thrombotic events was estimated at 2% to 3% for a new CVT and 3% to 8% for extracranial events. However, because of the paucity of prospective studies, the clinical course of CVT is still largely unknown. We aimed to prospectively evaluate the rate of thrombosis recurrence in a cohort of CVT patients with a long-term follow-up and to detect predisposing factors for recurrence.

Methods: Consecutive CVT patients with complete clinical, radiological, biological, and genetic data were systematically followed up. New venous thrombotic events were detected after hospital readmission and imaging confirmation.

Results: One-hundred eighty-seven patients (mean age 45±18 years, 67% women) with angiographically confirmed CVT were included. Cause was found in 73% of patients. Coagulation abnormality and JAK2 gene mutation were detected in 20% and 9%, respectively. Median follow-up length was 73 months (range 1-247 months). Mean duration of the oral anticoagulant treatment was 14 months. Mortality rate was 2.5% per year, with 2% in-hospital mortality. During follow-up, CVT reoccurred in 6 patients, whereas 19 subjects had a symptomatic extracranial venous thrombotic event, with cumulative venous thrombotic recurrence rates of 3% at 1 year, 8% at 2 years, 12% at 5 years, and 18% at 10 years. A previous venous thrombotic event (hazard ratio, 2.8; P=0.018), presence of cancer or malignant hemopathies (hazard ratio, 3.2; P=0.039), and unknown CVT causes (hazard ratio, 2.81; P=0.024) were independently associated with recurrence.

Conclusions: In our cohort of CVT patients followed on average for >6 years, subjects with a previous venous thrombotic event, cancer/malignant hemopathies, and unknown CVT causes were found to be at higher risk of recurrence.
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http://dx.doi.org/10.1161/STROKEAHA.116.015294DOI Listing
February 2017

Drug-induced progressive multifocal leukoencephalopathy: a case/noncase study in the French pharmacovigilance database.

Fundam Clin Pharmacol 2017 Apr 24;31(2):237-244. Epub 2016 Nov 24.

Service de Pharmacologie Clinique et Vigilances, CHU de Poitiers, 2 rue de la milétrie, 86021, Poitiers, France.

Progressive multifocal leukoencephalopathy (PML) is an often fatal demyelinating disease of the central nervous system. As effective treatment is unavailable, identification of all drugs that could be associated with PML is essential. The objective of this study was to investigate the putative association of reports of PML and drugs. We used the case/noncase method in the French PharmacoVigilance database (FPVD). Cases were reports of PML in the FPVD between January 2008 and December 2015. Noncases were all other reports during the same period. To assess the association between PML and drug intake, we calculated an adverse drug report odds ratio (ROR) with its 95% confidence interval. We have studied the delay of onset of PML for each drug concerned. Among the 101 cases of PML, 39 drugs were mentioned as suspect. The main therapeutic classes suspected with significant ROR were antineoplastic agents (n = 85), immunosuppressants (n = 67), and corticosteroids. A latent interval from the time of drug initiation to the development of PML is established: the median time to onset was 365 days (123-1095 days). The onset of PML is highly variable and differs among drug classes [from 1 to 96 months (IQR: 39.0-126)]. An association between PML and some immunosuppressant drugs was found as expected, but also with antineoplastic agents and glucocorticoids. An important delay of PML onset after stopping treatment is suspected and should alert prescribers. Prescribers but also patients should be informed about the potential associations with all these drugs. Monitoring could be necessary for many drugs to early detect PML.
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http://dx.doi.org/10.1111/fcp.12247DOI Listing
April 2017

Long-term outcome of basilar stenosis in Erdheim-Chester disease: A case report.

Medicine (Baltimore) 2016 Sep;95(36):e4813

Department of Neurology, CHU of Poitiers, University of Poitiers, Poitiers Department of Internal Medicine and French reference Center for Rare Auto-immune and Systemic Diseases, Assistance Publique-Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital Université Pierre et Marie Curie, UPMC University Paris 6, Paris Department of Pathology, CHU of Poitiers, University of Poitiers, Poitiers, France.

Background: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis. This inflammatory myeloid neoplasm is frequently complicated by neurological symptoms, but stroke is an exceptional manifestation of this disease.

Methods: We report the case of a 59-year-old woman who presented a vertebrobasilar stroke secondary to infiltration and severe stenosis of the basilar artery, improved after interferon-alpha therapy. We performed a review of the relevant literature and reported the few other cases described.

Results: With our patient, we have found only 7 observations of cerebrovascular disorder in ECD. Most of them had supravascular arteries involvement.

Conclusion: Stroke is a rare treatable and potentially reversible complication of ECD. The pathophysiological processes explaining stroke in this disease are uncertain, but periarterial stenosis of cerebral arteries may be a mechanism.
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http://dx.doi.org/10.1097/MD.0000000000004813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023919PMC
September 2016

Guillain-Barré Syndrome (42 Cases) Occurring During a Zika Virus Outbreak in French Polynesia.

Medicine (Baltimore) 2016 Apr;95(14):e3257

From the Department of Neurology (LW, J-PN, SM), Poitiers University Hospital Center, Poitiers, France; Department of Neurology (FG, PL), French Polynesia Hospital Center, Papeete, Tahiti, French Polynesia; and Department of Clinical Neurophysiology (EF), La Pitié-Salpêtrière University Hospital Center, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Bd de l'Hôpital, Paris cedex, France.

Zika virus (transmitted by mosquitoes) reached French Polynesia for the first time in 2013, leading to an epidemic affecting 10% of the total population. So far, it has not been known to induce any neurological complications, but, a few weeks after the outbreak, an unexpectedly high number of 42 patients presented with Guillain-Barré syndrome.We report the clinical and electrophysiological characteristics of this series. Males predominated with a sex ratio of 2.82 (mean age: 46). All patients (except 2) were native Polynesian. At admission, 55% were able to walk unaided against 38% at nadir, 24% had swallowing troubles (nadir: 45%), 74% had motor weakness of the limbs (nadir: 86%) and deep tendon reflexes were diminished or not found in the vast majority of patients. Mean duration of the progressive phase and of the plateau phase was respectively 7 and 9 days. Thirty-eight percent of the patients were admitted in intensive care unit and 10 patients underwent tracheotomy. Nerve electrophysiological studies at admission showed marked distal motor conduction alterations, which had almost completely disappeared at the 4th month; this pattern was more suggestive of acute motor axonal neuropathy (AMAN) than of acute inflammatory demyelinating polyneuropathy (AIDP). Lumbar puncture showed elevated proteins in 90% of the cases, with cell count always inferior to 50/μL.This epidemic raises several questions, such as the potential existence of interactions between Zika virus and Polynesian HLA system and/or the consequences of several recombination events of this virus. This situation should call for increased vigilance, especially in countries where Aedes mosquitoes are present.
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http://dx.doi.org/10.1097/MD.0000000000003257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4998790PMC
April 2016

Posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome after bilateral carotid paraganglioma resection: A case report.

Cephalalgia 2017 Jan 11;37(1):89-93. Epub 2016 Jul 11.

1 Department of Neurology, CHU Poitiers, University of Poitiers, 2 rue de la Milétrie, 86021 Poitiers, France.

Background Paraganglioma is a rare neuroendocrine tumour arising anywhere along the paravertebral sympathetic and parasympathetic chains. In the neck, paraganglioma may affect the carotid body (carotid body tumour). Case report We describe a 43-year-old woman who presented with a reversible vasoconstriction syndrome associated with a posterior reversible encephalopathy syndrome following a surgery for a left carotid paraganglioma (with a past medical history of surgery for a right carotid paraganglioma a few months before). Conclusion A consequence of a baroreflex modification is discussed in order to explain the rare occurrence of such symptoms.
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http://dx.doi.org/10.1177/0333102416629235DOI Listing
January 2017

Intraventricular Silicone Oil: A Case Report.

Medicine (Baltimore) 2016 Jan;95(1):e2359

From the Department of Neurology (SM, JC, J-PN); Department of Ophtalmology (MB); and Department of Radiology, CHU Poitiers, University of Poitiers, 2 rue de la Milétrie, Poitiers, France (J-PT, CS).

Intracranial silicone oil is a rare complication of intraocular endotamponade with silicone oil. We describe a case of intraventricular silicone oil fortuitously observed 38 months after an intraocular tamponade for a complicated retinal detachment in an 82 year-old woman admitted in the Department of Neurology for a stroke. We confirm the migration of silicone oil along the optic nerve. We discuss this rare entity with a review of the few other cases reported in the medical literature. Intraventricular migration of silicone oil after intraocular endotamponade is usually asymptomatic but have to be known of the neurologists and the radiologists because of its differential diagnosis that are intraventricular hemorrhage and tumor.
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http://dx.doi.org/10.1097/MD.0000000000002359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706257PMC
January 2016

Simultaneous Quantification of Unmyelinated Nerve Fibers in Sural Nerve and in Skin.

J Neuropathol Exp Neurol 2016 Jan 7;75(1):53-60. Epub 2015 Dec 7.

From the Department and Laboratory of Neurology (MD, LM, LR, J-MV), Centre de Référence neuropathies périphériques rares, University Hospital Limoges, Limoges, France; Department of Biostatistics (PI), University of Poitiers, Poitiers, France; Department of Neurology (J-PN, SM), University Hospital, Poitiers, France

Peripheral polyneuropathies are common and their diagnosis may be challenging. We compared the results from sural-nerve and skin biopsies in 33 patients with a polyneuropathy and neuropathic pain examined in our hospital over a 6-year period. The biopsies were all from the same lower limb of each patient. Intraepidermal nerve fiber (IENF) densities in the skin were determined by fluorescence microscopy; unmyelinated fiber densities in sural-nerve biopsies (UFNB) were determined by electron microscopy. There was no correlation with age or gender in either biopsy type; there was a weak trend to correlation between UFNB density and IENF density, possibly because of the small sample size. The sensitivity of detection of quantitative abnormalities of unmyelinated fibers was better in the skin than in the nerves. Proximal and distal IENF densities were strongly correlated; and counts of UFNB were highly reproducible. Thus, quantification of unmyelinated fibers in sural-nerve and skin biopsies seem to be complementary. Sural-nerve biopsy may be required to confirm a specific diagnosis, to identify lesion mechanisms, and to devise therapeutic strategies, whereas skin biopsy seems to be more efficient in the follow-up of length-dependent polyneuropathies and in the diagnosis of neuropathic pain.
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http://dx.doi.org/10.1093/jnen/nlv005DOI Listing
January 2016

Rituximab as first-line therapy in neuromyelitis optica: efficiency and tolerability.

J Neurol 2015 Oct 21;262(10):2329-35. Epub 2015 Jul 21.

Pole des Neurosciences, CHU Toulouse and UMR 1043, Université de Toulouse III, Toulouse, France.

Neuromyelitis optica (NMO) is a life-threatening disease without any validated treatment strategy. Recent retrospective studies suggested the efficacy of B cell depletion without any distinction between first-line or rescue therapy. To assess whether rituximab as first-line therapy in NMO could efficiently control the occurrence of relapses. A retrospective analysis of NMO patients from NOMADMUS network found 32 patients receiving rituximab as first-line therapy. Main measures were number of relapse-free patients, changes in the annualized relapse rate (ARR), and changes in the EDSS. Tolerance was reported. At baseline, NMO patients were 45 ± 12.1 years old, with a sex ratio of 5.4, and 87.5 % of them had AQP4 antibodies. The median disease duration was 6.5 months (1-410), the mean EDSS was 5.8 ± 2.4 and the mean ARR was 3.8 ± 4.3. After rituximab with a mean follow-up of 28.7 ± 21 months, twenty-seven patients (84.3 %) were relapse free. Patients presented a 97 % decrease of ARR (p = 0.00001). EDSS decreased significantly to 3.9 ± 2.6 (p = 0.01). No relevant side effect was noted. New retrospective data are presented on RTX use in NMOSD. When used as first-line therapy RTX is highly effective and well tolerated.
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http://dx.doi.org/10.1007/s00415-015-7852-yDOI Listing
October 2015

Neurological Manifestations in Parry-Romberg Syndrome: 2 Case Reports.

Medicine (Baltimore) 2015 Jul;94(28):e1147

From Department of Neurology, CHU Poitiers, University of Poitiers, Poitiers (JV, SM, JPN); Cabinet of Neurology, Niort (ML); and Department of Radiology, CHU Poitiers, University of Poitiers, Poitiers, France (RG).

Parry-Romberg syndrome (PRS) is a variant of morphea usually characterized by a slowly progressive course. Clinical and radiological involvement of the central nervous system may be observed in PRS. We describe 2 patients with PRS and neurological symptoms (one with trigeminal neuralgia associated with deafness, and the second with hemifacial pain associated with migraine without aura) in conjunction with abnormal cerebral MRI including white matter T2 hyperintensities and enhancement with gadolinium. Despite the absence of specific immunosuppressive treatments, both patients have presented stable imaging during follow-up without any clinical neurologic progression. We have performed a large review of the medical literature on patients with PRS and neurological involvement (total of 129 patients). Central nervous system involvement is frequent among PRS patients and is inconsistently associated with clinical abnormalities. These various neurological manifestations include seizures, headaches, movement disorders, neuropsychological symptoms, and focal symptoms. Cerebral MRI may reveal frequent abnormalities, which can be bilateral or more often homolateral to the skin lesions, localized or so widespread so as to involve the whole hemisphere: T2 hyperintensities, mostly in the subcortical white matter, gadolinium enhancement, brain atrophy, and calcifications. These radiological lesions do not usually progress over time. Steroids or immunosuppressive treatments are controversial since it remains unclear to what extent they are beneficial and there is often no neurological progression.
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http://dx.doi.org/10.1097/MD.0000000000001147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617071PMC
July 2015

Anti-NMDA Receptor Encephalitis During Pregnancy: A Case Report.

Medicine (Baltimore) 2015 Jul;94(26):e1034

From the Department of Neurology, CHU Poitiers, Poitiers (SM, JCP, AI, ML, JPN); Department of Neurology, Hôpital d'Angoulême, Angoulême France (CP); and Department of Gynecology, CHU Poitiers, Poitiers, France (FP).

Anti-N-methyl-D-aspartate receptor (anti-MMDAR) encephalitis is an immune-mediated encephalitis mainly affecting young women.We describe the case of a 21-year-old woman who developed a classical form of anti-NMDAR encephalitis during the 10th week of gestation. The patient had been treated with methylpredinsolone and intravenous immunoglobulins. Birth history of the child was normal, with normal APGAR score. The clinical symptoms of the patient have improved after a few months.This rare occurrence during pregnancy (only 9 other cases described) presents an opportunity to highlight the importance of making the earliest possible diagnosis of this treatable and potentially reversible encephalitis, and to educate gynecologists, psychiatrists, anesthetists, and neurologists on this potential cause of psychiatric and neurological manifestations during pregnancy.
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http://dx.doi.org/10.1097/MD.0000000000001034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504573PMC
July 2015

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Brain 2015 Feb 19;138(Pt 2):284-92. Epub 2014 Dec 19.

16 Département de Neurologie, CHU de Bordeaux, 33076 Bordeaux, France.

Inherited white matter diseases are rare and heterogeneous disorders usually encountered in infancy. Adult-onset forms are increasingly recognized. Our objectives were to determine relative frequencies of genetic leukoencephalopathies in a cohort of adult-onset patients and to evaluate the effectiveness of a systematic diagnostic approach. Inclusion criteria of this retrospective study were: (i) symmetrical involvement of white matter on the first available brain MRI; (ii) age of onset above 16 years. Patients with acquired diseases were excluded. Magnetic resonance imaging analysis identified three groups (vascular, cavitary and non-vascular/non-cavitary) in which distinct genetic and/or biochemical testing were realized. One hundred and fifty-four patients (male/female = 60/94) with adult-onset leukoencephalopathies were identified. Mean age of onset was 38.6 years. In the vascular group, 41/55 patients (75%) finally had a diagnosis [including CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, n = 32) and COL4A1 mutation, n = 7]. In the cavitary group, 13/17 (76%) patients had a diagnosis of EIF2B-related disorder. In the third group (n = 82), a systematic biological screening allowed a diagnosis in 23 patients (28%) and oriented direct genetic screening identified 21 additional diseases (25.6%). Adult-onset genetic leukoencephalopathies are a rare but probably underestimated entity. Our study confirms the use of a magnetic resonance imaging-based classification with a final diagnosis rate of 64% (98/154) cases.
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http://dx.doi.org/10.1093/brain/awu353DOI Listing
February 2015

Procedural learning of semantic categorization in Parkinson's disease.

J Alzheimers Dis 2015 ;45(1):205-16

Department of Neurology, University Hospital, CHU La Milétrie, Poitiers, France.

This paper studies the procedural learning of semantic categorization in 29 patients with non-demented Parkinson's disease (PD). We investigated whether the PD group was able to develop semantic skill, using a cognitive procedural task developed in our laboratory, applying a manual and serial reaction time paradigm to semantic categorization. The PD group showed similar scores to those of the control group on semantic categorization. Both groups showed reaction time reduction over the semantic procedural task, but the PD group produced longer reaction times than the control subjects. Contrary to our prediction, we observed an improvement in semantic categorization reaction times with practice, even with new verbal material for the PD patients to categorize despite their motor impairments and executive deficits. By contrast, we found a significant negative correlation between axial motor signs and the ratio of semantic procedural learning, but not for lateral motor signs. The present results support the notion that non-demented PD patients may be capable of acquiring comparable semantic skill to those of the control group.
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http://dx.doi.org/10.3233/JAD-142271DOI Listing
February 2016

Multiple simultaneous intracranial hemorrhages due to hornet stings.

Clin Neurol Neurosurg 2015 Jan 3;128:53-5. Epub 2014 Nov 3.

Department of Neurology, CHU Poitiers, University of Poitiers, 2 rue de la Milétrie, 86021 Poitiers, France.

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http://dx.doi.org/10.1016/j.clineuro.2014.10.014DOI Listing
January 2015

Long-term follow-up study of endarterectomy versus angioplasty in patients with symptomatic severe carotid stenosis trial.

Stroke 2014 Sep 31;45(9):2750-6. Epub 2014 Jul 31.

From the Hôpital Sainte-Anne, Université Paris-Descartes, INSERM U894, DHU Neurovasc-Paris Sorbonne, Paris, France (J.-L.M., D.C.); Hôpital Gui de Chauliac, Université Montpellier 1, Montpellier, France (C.A.); Hôpital Rangueil (A.V., V.L.) and Hôpital Purpan (J.-F.A.), Université Paul Sabatier, Toulouse, France; Hôpital de la Timone, Université de la Méditerranée, Marseille, France (P.P., L.M.); Hôpital Nord, Université Jean Monnet, Saint-Etienne, France (P.G.); Hôpital Côte de Nacre, Université de Caen, Caen, France (F.V.); Hôpital Général, Université de Bourgogne, Dijon, France (M.G.); Hôpital Henri Mondor, Université Paris-Val-de-Marne, Créteil, France (H. Hosseini); Nouvelles Cliniques Nantaises, Nantes, France (G.H.); Hôpital Lariboisière (P.F.) and Hôpital Bichat-Claude Bernard (P.A.), Université Paris Diderot, Paris, France; Hôpital Roger Salengro, Université du Droit et de la Santé, Lille, France (H. Hénon, D.L.); Hôpital La Milétrie, Université de Poitiers, Poitiers, France (J.-P.N.); Hôpital Saint-Julien, Université Henri Poincaré, Nancy, France (X.D.); Fondation Hôpital Saint-Joseph, Marseille, France (R.P.); Hôpital Pellegrin Tripode, Université de Bordeaux, Bordeaux, France (F.R.); Hôpital de Hautepierre, Université de Strasbourg, Strasbourg, France (V.W.); Hôpital Bretonneau, Université François Rabelais, Tours, France (D.S.); Hôpital Saint-Roch, Université Nice Sophia Antipolis, Nice, France (M.-H.M.); Hôpital Saint-Jean, Perpignan, France (D.S.); Hôpital Européen Georges Pompidou, Université Paris-Descartes, Paris, France (B.B., G.C.); Hôpital Jean Minjoz, Université de Franche-Comté, Besançon, France (T.M.); and Université Claude Bernard, Lyon, France (M.L.).

Background And Purpose: We aimed at comparing the long-term benefit-risk balance of carotid stenting versus endarterectomy for symptomatic carotid stenosis.

Methods: Long-term follow-up study of patients included in Endarterectomy Versus Angioplasty in Patients With Symptomatic Severe Carotid Stenosis (EVA-3S), a randomized, controlled trial of carotid stenting versus endarterectomy in 527 patients with recently symptomatic severe carotid stenosis, conducted in 30 centers in France. The main end point was a composite of any ipsilateral stroke after randomization or any procedural stroke or death.

Results: During a median follow-up of 7.1 years (interquartile range, 5.1-8.8 years; maximum 12.4 years), the primary end point occurred in 30 patients in the stenting group compared with 18 patients in the endarterectomy group. Cumulative probabilities of this outcome were 11.0% (95% confidence interval, 7.9-15.2) versus 6.3% (4.0-9.8) in the endarterectomy group at the 5-year follow-up (hazard ratio, 1.85; 1.00-3.40; P=0.04) and 11.5% (8.2-15.9) versus 7.6% (4.9-11.8; hazard ratio, 1.70; 0.95-3.06; P=0.07) at the 10-year follow-up. No difference was observed between treatment groups in the rates of ipsilateral stroke beyond the procedural period, severe carotid restenosis (≥70%) or occlusion, death, myocardial infarction, and revascularization procedures.

Conclusions: The long-term benefit-risk balance of carotid stenting versus endarterectomy for symptomatic carotid stenosis favored endarterectomy, a difference driven by a lower risk of procedural stroke after endarterectomy. Both techniques were associated with low and similar long-term risks of recurrent ipsilateral stroke beyond the procedural period.

Clinical Trial Registration Url: http://www.clinicaltrials.gov. Unique identifier: NCT00190398.
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http://dx.doi.org/10.1161/STROKEAHA.114.005671DOI Listing
September 2014

Paroxysmal sneezing at the onset of syncopes and transient ischemic attack revealing a papillary cardiac fibroelastoma.

Case Rep Neurol Med 2014 17;2014:734849. Epub 2014 Jun 17.

Department of Neurology, University of Poitiers, CHU Poitiers, 2 Rue de la Milétrie, 86021 Poitiers Cedex 05, France.

Sneezing can at times be associated with neurological disorders. The "sneeze center" is localized in the lateral medulla. We report the case of a 50-year-old man who presented three episodes of sneezing, two of them followed by an episode of transient gait instability and dizziness and the third one followed by an episode of transient left hemiparesis due to fibroelastoma of the aortic cardiac valve. To the best of our knowledge, this is the first description of a transient ischemic attack due to cardiac papillary fibroelastoma and revealed by violent episodes of sneezing.
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http://dx.doi.org/10.1155/2014/734849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4086253PMC
July 2014

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.

J Neurol Neurosurg Psychiatry 2014 Oct 14;85(10):1149-52. Epub 2014 May 14.

Department of Translational Medicine and Neurogenetics, IGBMC, Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France Université de Strasbourg, Illkirch, France Collège de France, chaire de génétique humaine, Illkirch, France.

Background: Autosomal dominant (AD) central core disease (CCD) is a congenital myopathy characterised by the presence of cores in the muscle fibres which correspond to broad areas of myofibrils disorganisation, Z-line streaming and lack of mitochondria. Heterozygous mutations in the RYR1 gene were observed in the large majority of AD-CCD families; however, this gene was excluded in some of AD-CCD families.

Objective: To enlarge the genetic spectrum of AD-CCD demonstrating mutations in an additional gene.

Patients And Methods: Four affected AD family members over three generations, three of whom were alive and participate in the study: the mother and two of three siblings. The symptoms began during the early childhood with mild delayed motor development. Later they developed mainly tibialis anterior weakness, hypertrophy of calves and significant weakness (amyotrophic) of quadriceps. No cardiac or ocular involvement was noted.

Results: The muscle biopsies sections showed a particular pattern: eccentric cores in type 1 fibres, associated with type 1 predominance. Most cores have abrupt borders. Electron microscopy confirmed the presence of both unstructured and structured cores. Exome sequencing analysis identified a novel heterozygous missense mutation p.Leu1723Pro in MYH7 segregating with the disease and affecting a conserved residue in the myosin tail domain.

Conclusions: We describe MYH7 as an additional causative gene for AD-CCD. These findings have important implications for diagnosis and future investigations of AD-congenital myopathies with cores, without cardiomyopathy, but presenting a particular involvement of distal and quadriceps muscles.
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http://dx.doi.org/10.1136/jnnp-2013-306754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173876PMC
October 2014

Apathy in Parkinson's disease: an electrophysiological study.

Neurol Res Int 2014 7;2014:290513. Epub 2014 Apr 7.

Department of Neurology, CHU Poitiers, University of Poitiers, 2 rue de la Milétrie, 86021 Poitiers, France.

In Parkinson's disease (PD), apathy (or loss of motivation) is frequent. Nevertheless, the contribution of attentional disorders to its genesis is still not clearly known. We want to determine the relation existing between apathy and attentional disorders by using P300a (or novelty P3) as a marker of the attentional process. The study included 25 patients (13 women and 12 men) with PD for whom we have determined the relationship between automatic attention (represented by P300a) and motor status, apathy, executive dysfunction, mental flexibility, inhibitory control, and depression/anxiety. We have found a correlation between the apathy score and amplitude of novelty P300 during the ON period and also a correlation of the apathy score with a decrease in amplitude of P300 during the OFF period. In a linear regression model, changes in the P300a predicted the severity of apathy independently of any other variable. We concluded firstly that the reduction in amplitude of the P300a wave was a neurophysiological marker of apathy in PD and secondly that apathy led to both dopaminergic denervation (mesolimbic) and nondopaminergic (dorsolateral prefrontal-subcortical) dysfunction.
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http://dx.doi.org/10.1155/2014/290513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3996982PMC
May 2014

Primary angiitis of the central nervous system: description of the first fifty-two adults enrolled in the French cohort of patients with primary vasculitis of the central nervous system.

Arthritis Rheumatol 2014 May;66(5):1315-26

Hôpital Cochin, AP-HP, and Université Paris-Descartes, Paris, France, and Centre Hospitalier Universitaire (CHU) de Caen, Caen, France.

Objective: To describe characteristics and outcomes of a multicenter cohort of patients diagnosed as having primary angiitis of the central nervous system (PACNS).

Methods: In 2010, we initiated a cohort study of adults diagnosed as having PACNS ≤15 years ago and with followup of >6 months (unless they died earlier of biopsy-proven PACNS). Its first analysis was planned at 2 years. Multidisciplinary investigators verified that appropriate investigations were done and excluded patients with possible alternative diagnoses. We analyzed patient demographics and symptoms, laboratory, radiographic, and histologic findings, and treatments. Studied outcomes included treatment response(s), relapse, death, and disability.

Results: We included 52 patients (30 males; median age at diagnosis 43.5 years [range 18-79 years]) in whom PACNS was diagnosed between 1996 and 2012. Nineteen (61%) of 31 patients who had undergone brain biopsy had histologic vasculitis (biopsy-proven PACNS), while the other 12 patients had normal or noncontributive biopsy samples. An additional 21 patients had signs suggestive of PACNS on conventional cerebral angiography. All but 1 patient received corticosteroids, and 44 patients received cyclophosphamide (CYC). After a median followup of 35 months (range 2-148 months) postdiagnosis (1 patient with biopsy-proven PACNS died 2 months after diagnosis), 32 patients responded to treatment with improved modified Rankin scale scores, 4 patients (8%) did not respond, 14 patients (27%) had relapse of their disease at least once, and 3 patients (6%) died (1 patient after a relapse). Relapse was more common in patients with than in those without meningeal gadolinium enhancements on magnetic resonance imaging (MRI) (8 of 10 [80%] versus 6 of 32 [19%]; P = 0.001) and more common in patients with than in those without seizures at diagnosis (8 of 17 [47%] versus 6 of 35 [17%]; P = 0.04).

Conclusion: In this cohort of patients with PACNS, most patients received corticosteroids and CYC, and mortality was low. Patients with seizures at diagnosis or meningeal enhancements on MRI may be prone to relapse and require a different treatment strategy.
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http://dx.doi.org/10.1002/art.38340DOI Listing
May 2014
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