European Journal of Neurology

Gargi Banerjee, Gareth Ambler, Duncan Wilson, Isabel C Hostettler, Clare Shakeshaft, Surabhika Lunawat, Hannah Cohen, Tarek Yousry, Rustam Al-Shahi Salman, Gregory Y H Lip, Henry Houlden, Keith W Muir, Martin M Brown, Hans Rolf Jäger, David J Werring
BACKGROUND: We wished to determine whether early and late death are associated with different baseline factors in intracerebral haemorrhage survivors. METHODS: This is a secondary analysis of the multicentre prospective observational CROMIS-2 ICH study. Death was defined as "early" if occurring within 6 months of study entry, and "late" if occurring after this time point. RESULTS: In our cohort (n=1094), there were 306 deaths (per 100 patient-years: absolute event rate 11...
March 29, 2020: European Journal of Neurology
Gabrielle Macaron, Laura E Baldassari, Kunio Nakamura, Stephen M Rao, Marisa P McGinley, Brandon P Moss, Hong Li, Deborah M Miller, Stephen E Jones, Robert A Bermel, Jeffrey A Cohen, Daniel Ontaneda, Devon S Conway
OBJECTIVE: To analyze the relationship between cognitive processing speed, patient-reported outcome measures (PROMs), employment, and MRI metrics in a large multiple sclerosis cohort METHODS: Cross-sectional clinical data, PROMs, employment, and MRI studies within 90 days of completion of the Processing Speed Test (PST), a technology-enabled adaptation of the Symbol Digit Modalities Test, were collected. MRIs were analyzed using semi-automated methods. Correlations of PST with PROMs and MRI metrics were examined using Spearman's rho...
March 28, 2020: European Journal of Neurology
F Zhao, B Mao, X Geng, X Ren, Y Wang, Y Guan, S Li, L Li, S Zhang, Y You, Y Cao, T Yang, X Zhao
BACKGROUND AND PURPOSE: Hereditary sensory and autonomic neuropathies (HSANs) are a group of clinically and genetically heterogeneous neurological disorders characterized by sensory dysfunctions. Here we report 21 affected Chinese families, including nineteen with congenital insensitivity to pain with anhidrosis (CIPA; namely HSAN IV) and two with congenital insensitivity to pain (CIP; namely HSAN IID), respectively caused by biallelic variations in NTRK1 and SCN9A, aiming to identify causative variants in these families and compare how different variants in NTRK1 affect the function of tropomyosin receptor kinase A (TrkA)...
March 27, 2020: European Journal of Neurology
Tong Sun, Junwen Guan
An outbreak of a novel coronavirus (2019-nCoV) that emerged in Wuhan has rapidly spread throughout China and has now become a global public health concern. As of the early March, a total of 100,000 cases have been confirmed in multiple countries. Clinical characteristics of 2019-nCoV that respiratory symptoms, such as cough, are the most common.[1] This is consistent with the finding that the majority of patients are virus-positive in nasopharyngeal and oropharyngeal swabs suggesting it mainly invades and infects the respiratory system, a hypothesis supported by pathological data...
March 26, 2020: European Journal of Neurology
Bettina Balint, Rita Guerreiro, Susana Carmona, Nadia Dehghani, Anna Latorre, Carla Cordivari, Kailash P Bhatia, Jose Bras
BACKGROUND: Despite recent advances in neurogenetics which have facilitated the identification of a number of dystonia genes, many familial dystonia syndromes remain without known cause. OBJECTIVE: To identify the cause of autosomal dominant tremulous myoclonus-dystonia in a UK kindred with affected individuals in three generations. METHODS: Known genetic causes of myoclonus-dystonia were excluded. We combined clinical and electrophysiological phenotyping with whole-exome sequencing and Sanger sequencing to identify candidate causal variants in a family with tremulous myoclonus-dystonia...
March 25, 2020: European Journal of Neurology
Jeffrey Shi Kai Chan
I read with interest the recent meta-analysis by Katsanos et al.(1) The authors are to be applauded for their efforts and careful analysis. In view of the potential significance of the findings, a trial sequential analysis (TSA) was performed to assess the conclusiveness of the presented evidence.
March 23, 2020: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
M Mancuso, M Arnold, A Bersano, A Burlina, H Chabriat, S Debette, C Enzinger, A Federico, A Filla, J Finsterer, D Hunt, S Lesnik Oberstein, E Tournier-Lasserve, H S Markus
BACKGROUND AND PURPOSE: Guidelines on monogenic cerebral small-vessel disease (cSVD) diagnosis and management are lacking. Endorsed by the Stroke and Neurogenetics Panels of the European Academy of Neurology, a group of experts has provided recommendations on selected monogenic cSVDs, i.e. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), autosomal dominant High Temperature Requirement A Serine Peptidase 1 (HTRA1), cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL), pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL), Fabry disease, mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and type IV collagen (COL4)A1/2...
March 20, 2020: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Suzhen Lin, Lu He, Ruinan Shen, Fang, Hong Pan, Xue Zhu, Mengyan Wang, Zhekun Zhou, Zhihao Liu, Xinrui Wang, Savannah Fang, Xiaoyu Sun, Ying Wang, Shengdi Chen, Jianqing Ding
BACKGROUND: Neuroinflammation is known to be involved in the pathogenesis of Parkinson's disease (PD). Abnormal activation of microglia plays a key role in this pathological process. CD200R1 is a membrane glycoprotein that is expressed primarily on myeloid cells including microglia, and is involved in the maintenance of microglia in a stationary status. Our previous study has reported that the regulation of CD200R1 expression is altered in PD patient. Such alteration will lead to neuroinflammation and is related to the pathogenesis of PD...
March 19, 2020: European Journal of Neurology
Rie Saito, Vasileios-Arsenios Lioutas
Cerebral small vessel disease (cSVD) is a leading cause of stroke and lies at the heart of vascular contributions to dementia. Sporadic cSVD is well-recognized and widely studied, whereas monogenic cSVD is incompletely characterized and understood.
March 19, 2020: European Journal of Neurology
Tomoyuki Kawada
I read the article 'Serum neurofilament light chain at time of diagnosis is an independent prognostic factor of survival in amyotrophic lateral sclerosis' [1] with great interest. Thouvenot et al. examined the prognostic value of serum neurofilament light chain (sNfL) in 207 patients with amyotrophic lateral sclerosis (ALS) at the time of diagnosis. By Cox regression analysis, sNfL, weight loss and site at onset were significant predictive factors of death. The same findings had been reported by Lu et al. [2], and I have two concerns with their study...
March 18, 2020: European Journal of Neurology
D Santos-García, T de Deus Fonticoba, E Suárez Castro, A Aneiros Díaz, D McAfee, M J Catalán, F Alonso-Frech, C Villanueva, S Jesús, P Mir, M Aguilar, P Pastor, J García Caldentey, E Esltelrich Peyret, L L Planellas, M J Martí, N Caballol, J Hernández Vara, G Martí Andrés, I Cabo, M A Ávila Rivera, L López Manzanares, N Redondo, P Martinez-Martin
OBJECTIVE: The objective of this study was to analyze the relationship between motor complications and non-motor symptoms (NMS) burden in a population of Parkinson's disease (PD) and also in a subgroup of early PD patients. METHODS: PD patients from the COPPADIS cohort were included in this cross-sectional study. NMS burden was defined according to the NMSS (Non-Motor Symptoms Scale) total score. UPDRS (Unified Parkinson´s Disease Rating Scale) part-IV was used to establish motor complication types and their severity...
March 17, 2020: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Athanasia Printza, Marina Boziki, Christos Bakirtzis, Ioannis Nikolaidis, Maria Kalaitzi, Stefanos Triaridis, Nikolaos Grigoriadis
BACKGROUND: Many patients with multiple sclerosis (MS) present swallowing difficulties. Dysphagia is associated with significant morbidity and mortality, has a profound impact on the quality of life but is under-reported by patients. OBJECTIVE: To investigate the psychometric properties of the Dysphagia in Multiple Sclerosis (DYMUS) questionnaire, and examine whether item reduction is improving them. METHODS: The participants, 153 patients with MS, and 104 healthy controls, completed the DYMUS and the Eating Assessment Tool-10 (EAT-10)...
March 17, 2020: European Journal of Neurology
Roberto Erro, Alessio di Fonzo, Marco Percetti, Edoardo Monfrini, Sara Scannapieco, Marina Picillo, Paolo Barone
Mutations in GNAL have been associated with isolated segmental dystonia, most commonly involving the cranio-cervical region and with onset in adulthood. We describe a 44-year old man with childhood-onset dystonia and additional cerebellar signs, caused by a very rare GNAL mutation, expanding the clinical spectrum of DYT-GNAL.
March 17, 2020: European Journal of Neurology
P A Kowacs
In this issue of European Journal of Neurology, Kim et al. bring to us a relevant study on the incidence of oral anticoagulant (OAC) interruption in patients with atrial fibrillation and subsequent stroke. It is still surprising to see that in the 21st century we are still facing lack of compliance to therapy leading to a potentially devastating condition such as stroke. In a multicenter trial carried out in 11 Korean centers over two years, 3,213 consecutive acute ischemic stroke patients with atrial fibrillation were surveyed and studied...
March 16, 2020: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Mariana Alves, Daniel Caldeira, José M Ferro, Joaquim J Ferreira
Dr. Rodrigues and his team raised awareness of a clinical entity called sudden death in PD (SUDPAR) in their reply to our recently published systematic review about the risk of cardiovascular events in Parkinson's Disease (PD).[1].
March 16, 2020: European Journal of Neurology
Laís D Rodrigues, Leandro F Oliveira, Carla A Scorza, Monica L Andersen, Sergio Tufik, Josef Finsterer, Fulvio A Scorza
Always on the lookout for articles from the European Journal of Neurology, one in particular has attracted a lot of attention because the results are really fascinating. Although replication is needed, Alves and colleagues addressed a priority issue in clinical research demonstrating that Parkinson's disease (PD) was associated with an increased risk of stroke but the risk of myocardial infarction (MI) and cardiovascular mortality was not significantly increased However, a very important issue and still neglected by neuroscientists are the aspects related to sudden death in PD (SUDPAR)...
March 14, 2020: European Journal of Neurology
Giulia Carli, Silvia P Caminiti, Andrea Galbiati, Sara Marelli, Francesca Casoni, Alessandro Padovani, Luigi Ferini-Strambi, Daniela Perani
BACKGROUND: Isolated REM behaviour disorder (iRBD) is a parasomnia, recently recognized as a risk factor for progression to Parkinson's disease, dementia with Lewy Body (DLB) and multiple system atrophy. Biomarker studies in iRBD are relevant due to lack of evidence in this condition. The identification of biomarkers able to predict progression to synucleinopathy diseases is critical for iRBD. FDG-PET imaging might provide information about ongoing neurodegenerative processes. In the present study, we tested for presence of brain hypometabolism patterns, as biomarkers of neurodegeneration in single iRBD individuals...
March 14, 2020: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Maria Petracca, Simona Schiavi, Matteo Battocchio, Mohamed M El Mendili, Lazar Fleysher, Alessandro Daducci, Matilde Inglese
BACKGROUND: although interhemispheric disconnection significantly contributes to disability in multiple sclerosis (MS), the topography, timeline and relationship of callosal damage accrual with hemispheric damage are still unclear. METHODS: streamline density and presence of focal lesions in 5 callosal subregions were computed in 55 people with MS (pwMS) (13 relapsing remitting-RR, 20 secondary progressive-SP, 22 primary progressive-PP) and 24 healthy controls. RESULTS: streamline density decrease was identified in SPMS in all CC subregions, in PPMS in posterior CC and mid-posterior CC and in RRMS in posterior CC...
March 14, 2020: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Weineng Chen, Youna Xie, Minying Zheng, Jianing Lin, Pian Huang, Zhong Pei, Xiaoli Yao
BACKGROUND: Amyotrophic lateral sclerosis (ALS)-related genes and mutations have been increasingly discovered recently, and an improved understanding of genotype-phenotype relationships may help predict the disease course and refine genetic diagnosis. METHODS: We collected clinical data and blood samples from 268 patients and used next generation sequencing to comprehensively assay genetic variations in a panel of known ALS genes from 2015 to 2019. RESULTS: Among these patients, the mean age of onset was 52...
March 12, 2020: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Cai-Yan Liu, Shuang Yan, Bo Hou, Ming-Li Li, Shan Gao, Ang Li, Bing Liu, Wei-Hai Xu
BACKGROUND: The role of intracranial occlusive disease in cognitive impairment and dementia is unclear and has not been well studied. METHODS: Thirty-two consecutive patients (13 males, aged 54±12 years) with asymptomatic steno-occlusive middle cerebral artery disease ,defined as >70% stenosis on maximum intensity projection images or a complete signal loss of middle cerebral artery trunk on magnetic resonance angiography, and 20 age- and education-matched normal controls (12 males, 60±8 years) were compared for neuropsychological performance, gray matter volume and neural network analysis...
March 11, 2020: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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