journal
https://read.qxmd.com/read/34292398/episodic-ataxia-and-severe-infantile-phenotype-in-spinocerebellar-ataxia-type-14-expansion-of-the-phenotype-and-novel-mutations
#1
Giovanna De Michele, Daniele Galatolo, Serena Galosi, Andrea Mignarri, Gabriella Silvestri, Carlo Casali, Vincenzo Leuzzi, Ivana Ricca, Melissa Barghigiani, Alessandra Tessa, Ettore Cioffi, Caterina Caputi, Vittorio Riso, Maria Teresa Dotti, Francesco Saccà, Giuseppe De Michele, Sirio Cocozza, Alessandro Filla, Filippo M Santorelli
INTRODUCTION: Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in PRKCG, a gene encoding protein kinase C gamma (PKCγ), a master regulator of Purkinje cells development. METHODS: We performed next-generation sequencing targeted resequencing panel encompassing 273 ataxia genes in 358 patients with genetically undiagnosed ataxia. RESULTS: We identified fourteen patients in ten families harboring nine pathogenic heterozygous variants in PRKCG, seven of which were novel...
July 22, 2021: Journal of Neurology
https://read.qxmd.com/read/34292397/cerebrospinal-fluid-metallomics-in-cerebral-amyloid-angiopathy-an-exploratory-analysis
#2
Gargi Banerjee, Niklas Forsgard, Gareth Ambler, Ashvini Keshavan, Ross W Paterson, Martha S Foiani, Jamie Toombs, Amanda Heslegrave, Edward J Thompson, Michael P Lunn, Nick C Fox, Henrik Zetterberg, Jonathan M Schott, David J Werring
INTRODUCTION: Cerebral amyloid angiopathy (CAA) is associated with symptomatic intracerebral haemorrhage. Biomarkers of clinically silent bleeding events, such as cerebrospinal fluid (CSF) ferritin and iron, might provide novel measures of disease presence and severity. METHODS: We performed an exploratory study comparing CSF iron, ferritin, and other metal levels in patients with CAA, control subjects (CS) and patients with Alzheimer's disease (AD). Ferritin was measured using a latex fixation test; metal analyses were performed using inductively coupled plasma mass spectrometry...
July 22, 2021: Journal of Neurology
https://read.qxmd.com/read/34292396/risk-of-multiple-sclerosis-relapses-when-switching-from-fingolimod-to-cell-depleting-agents-the-role-of-washout-duration
#3
D Ferraro, P Iaffaldano, T Guerra, M Inglese, M Capobianco, V Brescia Morra, M Zaffaroni, M Mirabella, G Lus, F Patti, P Cavalla, M Cellerino, S Malucchi, E Pisano, F Vitetta, D Paolicelli, P Sola, M Trojano
BACKGROUND: Fingolimod (FTY) induces sequestration of lymphocytes in secondary lymphoid organs and the average lymphocyte recovery following discontinuation takes 1-2 months. It has been hypothesized that the therapeutic effects of subsequent cell-depleting agents may be compromised if initiated before lymphocyte recovery has occurred. OBJECTIVE: To assess the risk of relapses following FTY discontinuation and the initiation of a B/T cell-depleting agent in relation to washout duration using data from the Italian MS Register...
July 22, 2021: Journal of Neurology
https://read.qxmd.com/read/34291313/posterior-reversible-encephalopathy-syndrome-and-brain-haemorrhage-as-covid-19-complication-a-review-of-the-available-literature
#4
REVIEW
Francesco Motolese, Mario Ferrante, Mariagrazia Rossi, Alessandro Magliozzi, Martina Sbarra, Francesca Ursini, Massimo Marano, Fioravante Capone, Francesco Travaglino, Raffaele Antonelli Incalzi, Vincenzo Di Lazzaro, Fabio Pilato
BACKGROUND: SARS-CoV-2 infection has been associated with various neurological manifestations. Since patients affected by SARS-CoV-2 infection present coagulation and immune system dysregulation, ischemic or haemorragic stroke is not uncommon, irrespective of respiratory distress. However, the occurrence of focal neurological deficits together with other symptoms like headache, cortical blindness, seizure and altered mental status should prompt the diagnosis of Posterior Reversible Encephalopathy Syndrome (PRES)...
July 21, 2021: Journal of Neurology
https://read.qxmd.com/read/34283286/serum-neurofilament-light-chain-or-glial-fibrillary-acidic-protein-in-the-diagnosis-and-prognosis-of-brain-metastases
#5
Xinqing Lin, Tingting Lu, Haiyi Deng, Chunxin Liu, Yilin Yang, Tao Chen, Yinyin Qin, Xiaohong Xie, Zhanhong Xie, Ming Liu, Ming Ouyang, Shiyue Li, Yong Song, Nanshan Zhong, Wei Qiu, Chengzhi Zhou
INTRODUCTION: Brain metastases (BM) remains the most cumbersome disease burden in patients with lung cancer. This study aimed to investigate whether serum brain injury biomarkers can indicate BM, to further establish related diagnostic models, or to predict prognosis of BM. MATERIALS AND METHODS: This was a prospective study of patients diagnosed with lung cancer with BM (BM group), with lung cancer without BM (NBM group), and healthy participants (control group)...
July 20, 2021: Journal of Neurology
https://read.qxmd.com/read/34282471/epidemiology-work-and-economic-impact-of-migraine-in-a-large-hospital-cohort-time-to-raise-awareness-and-promote-sustainability
#6
Edoardo Caronna, Victor José Gallardo, Alicia Alpuente, Marta Torres-Ferrus, Patricia Pozo-Rosich
BACKGROUND: Migraine is not routinely assessed at work, making impossible to realize its impact and the potential benefit of migraine-related health strategies. We aimed to assess epidemiology, work and economic impact of migraine in a workplace cohort of a tertiary hospital. METHODS: Cross-sectional analysis of a cohort of employees working in a Spanish tertiary hospital. Through a web questionnaire, we screened participants for migraine, collecting demographic data, work characteristics, work impairment due to headache (WPAI), treatments and healthcare resource utilization...
July 20, 2021: Journal of Neurology
https://read.qxmd.com/read/34274994/hypermetabolism-associated-with-worse-prognosis-of-amyotrophic-lateral-sclerosis
#7
Ji He, Jiayu Fu, Wei Zhao, Chuan Ren, Ping Liu, Lu Chen, Dan Li, Lu Tang, Lequn Zhou, Yixuan Zhang, Xinran Ma, Gaoqi Zhang, Nan Li, Dongsheng Fan
BACKGROUND AND OBJECTIVE: Exploration of hypermetabolism in amyotrophic lateral sclerosis (ALS) with different ethnicities is needed to understand its metabolic implications for clinical management. We aimed to evaluate the features of hypermetabolism and investigate its association with clinical characteristics and prognosis of ALS in a prospective Chinese cohort. METHODS: This prospective study was conducted at Peking University Third Hospital, China from 2017 to 2020...
July 18, 2021: Journal of Neurology
https://read.qxmd.com/read/34274993/outcome-after-surgical-treatment-of-cerebrospinal-fluid-leaks-in-spontaneous-intracranial-hypotension-a-matter-of-time
#8
Levin Häni, Christian Fung, Christopher Marvin Jesse, Christian Thomas Ulrich, Eike Immo Piechowiak, Jan Gralla, Andreas Raabe, Tomas Dobrocky, Jürgen Beck
OBJECTIVE: Spinal cerebrospinal fluid (CSF) leaks cause spontaneous intracranial hypotension (SIH). Microsurgery can sufficiently seal spinal CSF leaks. Yet, some patients suffer from residual symptoms. Aim of the study was to assess predictors for favorable outcome after surgical treatment of SIH. METHODS: We included consecutive patients with SIH treated surgically from January 2013 to May 2020. Subjects were surveyed by a questionnaire. Primary outcome was resolution of symptoms as rated by the patient...
July 18, 2021: Journal of Neurology
https://read.qxmd.com/read/34275010/frequency-of-silent-brain-infarction-in-transient-global-amnesia
#9
Ramanan Ganeshan, Manja Betz, Jan F Scheitz, Hebun Erdur, Heinrich J Audebert, Jochen B Fiebach, Kersten Villringer
BACKGROUND AND PURPOSE: To determine the frequency and distribution pattern of acute DWI lesions outside the hippocampus in patients clinically presenting with Transient Global Amnesia (TGA). METHODS: Consecutive patients clinically presenting with TGA between January 2010 and January 2017 admitted to our hospital were retrospectively evaluated. All patients fulfilled diagnostic criteria of TGA. We analyzed imaging and clinical data of all patients undergoing MRI with high-resolution diffusion-weighted imaging within 72 h from symptom onset...
July 17, 2021: Journal of Neurology
https://read.qxmd.com/read/34272978/risk-of-intracranial-haemorrhage-and-ischaemic-stroke-after-convexity-subarachnoid-haemorrhage-in-cerebral-amyloid-angiopathy-international-individual-patient-data-pooled-analysis
#10
Isabel Charlotte Hostettler, Duncan Wilson, Catherine Arnold Fiebelkorn, Diane Aum, Sebastián Francisco Ameriso, Federico Eberbach, Markus Beitzke, Timothy Kleinig, Thanh Phan, Sarah Marchina, Romain Schneckenburger, Maria Carmona-Iragui, Andreas Charidimou, Isabelle Mourand, Sara Parreira, Gareth Ambler, Hans Rolf Jäger, Shaloo Singhal, John Ly, Henry Ma, Emmanuel Touzé, Ruth Geraldes, Ana Catarina Fonseca, Teresa Melo, Pierre Labauge, Pierre-Henry Lefèvre, Anand Viswanathan, Steven Mark Greenberg, Juan Fortea, Marion Apoil, Marion Boulanger, Fausto Viader, Sandeep Kumar, Velandai Srikanth, Ashan Khurram, Franz Fazekas, Veronica Bruno, Gregory Joseph Zipfel, Daniel Refai, Alejandro Rabinstein, Jonathan Graff-Radford, David John Werring
OBJECTIVE: To investigate the frequency, time-course and predictors of intracerebral haemorrhage (ICH), recurrent convexity subarachnoid haemorrhage (cSAH), and ischemic stroke after cSAH associated with cerebral amyloid angiopathy (CAA). METHODS: We performed a systematic review and international individual patient-data pooled analysis in patients with cSAH associated with probable or possible CAA diagnosed on baseline MRI using the modified Boston criteria. We used Cox proportional hazards models with a frailty term to account for between-cohort differences...
July 17, 2021: Journal of Neurology
https://read.qxmd.com/read/34263351/bilateral-vestibulopathy-decreases-self-motion-perception
#11
Lisa van Stiphout, Florence Lucieer, Maksim Pleshkov, Vincent Van Rompaey, Josine Widdershoven, Nils Guinand, Angélica Pérez Fornos, Herman Kingma, Raymond van de Berg
OBJECTIVE: Current diagnostic criteria for bilateral vestibulopathy (BV) primarily involve measurements of vestibular reflexes. Perceptual self-motion thresholds however, are not routinely measured and their clinical value in this specific population is not yet fully determined. Objectives of this study were (1) to compare perceptual self-motion thresholds between BV patients and control subjects, and (2) to explore patterns of self-motion perception performance and vestibular function in BV patients...
July 14, 2021: Journal of Neurology
https://read.qxmd.com/read/34259910/contribution-of-multi-modal-imaging-to-our-understanding-of-dystonia-pathogenesis
#12
Claire MacIver, Kathryn Peall
No abstract text is available yet for this article.
July 14, 2021: Journal of Neurology
https://read.qxmd.com/read/34259909/adult-onset-mitochondrial-movement-disorders-a-national-picture-from-the-italian-network
#13
V Montano, D Orsucci, V Carelli, C La Morgia, M L Valentino, C Lamperti, S Marchet, O Musumeci, A Toscano, G Primiano, F M Santorelli, C Ticci, M Filosto, A Rubegni, T Mongini, P Tonin, S Servidei, R Ceravolo, G Siciliano, Michelangelo Mancuso
INTRODUCTION: Both prevalence and clinical features of the various movement disorders in adults with primary mitochondrial diseases are unknown. METHODS: Based on the database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases", we reviewed the clinical, genetic, neuroimaging and neurophysiological data of adult patients with primary mitochondrial diseases (n = 764) where ataxia, myoclonus or other movement disorders were part of the clinical phenotype...
July 14, 2021: Journal of Neurology
https://read.qxmd.com/read/34258633/vestibular-function-testing-in-patients-with-rfc1-mutations
#14
LETTER
Gábor M Halmágyi, David J Szmulewicz
No abstract text is available yet for this article.
July 13, 2021: Journal of Neurology
https://read.qxmd.com/read/34255182/safety-of-alemtuzumab-in-a-nationwide-cohort-of-finnish-multiple-sclerosis-patients
#15
Ilkka Rauma, Tiina Mustonen, Juha Matti Seppä, Maritta Ukkonen, Marianne Männikkö, Auli Verkkoniemi-Ahola, Marge Kartau, Jukka T Saarinen, Liisa Luostarinen, Sakari Simula, Mervi Ryytty, Riitta Ahmasalo, Jussi O T Sipilä, Ilkka Pieninkeroinen, Tero Tapiola, Anne M Remes, Hanna Kuusisto
BACKGROUND: Alemtuzumab is an effective disease-modifying therapy (DMT) for highly active multiple sclerosis (MS). However, safety concerns limit its use in clinical practice. OBJECTIVES: To evaluate the safety of alemtuzumab in a nationwide cohort of Finnish MS patients. METHODS: In this retrospective case series study, we analyzed the data of all but two MS patients who had received alemtuzumab in Finland until 2019. Data were systematically collected from patient files...
July 13, 2021: Journal of Neurology
https://read.qxmd.com/read/34255181/irritable-bowel-syndrome-and-subsequent-risk-of-parkinson-s-disease-a-nationwide-population-based-matched-cohort-study
#16
Seo Yeon Yoon, Jaeyong Shin, Seok-Jae Heo, Jee Suk Chang, Mun Kyung Sunwoo, Yong Wook Kim
BACKGROUND: Gastrointestinal dysfunction (GI) is the most prevalent non-motor symptom of Parkinson's disease (PD), and its role in the risk of PD has been studied. In this study, we tried to evaluate whether irritable bowel syndrome (IBS) increased the risk of PD development stratified by sex, age, and IBS duration using a large nationwide cohort in Korea. METHODS: Patients aged ≥ 20 years with a primary diagnosis of IBS (ICD-10 codes: G56) more than three times were selected...
July 13, 2021: Journal of Neurology
https://read.qxmd.com/read/34245346/a-rise-in-cases-of-nitrous-oxide-abuse-neurological-complications-and-biological-findings
#17
Maximilian Einsiedler, Paul Voulleminot, Stanislas Demuth, Pauline Kalaaji, Thomas Bogdan, Lucas Gauer, Cécile Reschwein, Aleksandra Nadaj-Pakleza, Jérôme de Sèze, Laurent Kremer, Ivana Schroder, Kévin Bigaut
BACKGROUND: The recent lockdown due to the COVID-19 pandemic has been linked to a higher incidence of psychiatric manifestations and substance abuse. The recreative use of nitrous oxide is more and more widespread and neurological complications are frequent. METHODS: We report clinical characteristics and biological findings of five consecutive patients presenting to our tertiary care center between April 2020 and February 2021 with various neurological symptoms occurring after recent nitrous oxide abuse...
July 10, 2021: Journal of Neurology
https://read.qxmd.com/read/34245345/retina-thickness-in-atypical-parkinsonism-a-systematic-review-and-meta-analysis
#18
REVIEW
Xiaoli Ma, Yujie Wang, Nan Wang, Ruijun Zhang
BACKGROUND AND PURPOSE: To investigate the retina thickness assessed using optical coherence tomography in atypical parkinsonism in comparison with health controls (HC) and patients with Parkinson's disease (PD). METHODS: PubMed and EMBASE were searched for potentially eligible studies that reported retina thickness in atypical parkinsonism [including progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and corticobasal degeneration] in comparison with that of HC and PD patients from their dates of inception to Jan 24, 2021...
July 10, 2021: Journal of Neurology
https://read.qxmd.com/read/34244842/acute-vestibular-syndrome-is-skew-deviation-a-central-sign
#19
Athanasia Korda, Ewa Zamaro, Franca Wagner, Miranda Morrison, Marco Domenico Caversaccio, Thomas C Sauter, Erich Schneider, Georgios Mantokoudis
OBJECTIVE: Skew deviation results from a dysfunction of the graviceptive pathways in patients with an acute vestibular syndrome (AVS) leading to vertical diplopia due to vertical ocular misalignment. It is considered as a central sign, however, the prevalence of skew and the accuracy of its test is not well known . METHODS: We performed a prospective study from February 2015 until September 2020 of all patients presenting at our emergency department (ED) with signs of AVS...
July 9, 2021: Journal of Neurology
https://read.qxmd.com/read/34240321/the-angiographic-presentation-of-european-moyamoya-angiopathy
#20
Sara Pilgram-Pastor, René Chapot, Markus Kraemer
BACKGROUND AND PURPOSE: Little is known about the angiographic presentation of Moyamoya angiopathy (MMA) in non-Asian patients. METHODS: Conventional cerebral angiograms from 155 Caucasian patients diagnosed as MMA were analyzed with respect to extracranial champagne bottle neck sign, Suzuki stages, collateral status, as well as presence of aneurysms and posterior cerebral artery stenosis. RESULTS: In 84 of 155 angiograms, the extracranial carotid artery was visualized, in 65 of them (77...
July 8, 2021: Journal of Neurology
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