journal

Journal of Neurology

journal
https://read.qxmd.com/read/32647901/neuromyelitis-optica-and-myotonic-dystrophy-type-2-a-rare-association-with-diagnostic-implications
#1
LETTER
Stefano Gelibter, Lucia Moiola, Stefano Carlo Previtali, Massimo Filippi
No abstract text is available yet for this article.
July 9, 2020: Journal of Neurology
https://read.qxmd.com/read/32647900/association-of-neuronal-injury-blood-marker-neurofilament-light-chain-with-mild-to-moderate-covid-19
#2
LETTER
Markus Ameres, Susanne Brandstetter, Antoaneta A Toncheva, Michael Kabesch, David Leppert, Jens Kuhle, Sven Wellmann
No abstract text is available yet for this article.
July 9, 2020: Journal of Neurology
https://read.qxmd.com/read/32647899/deep-brain-stimulation-reduces-nocturnal-dyskinetic-exacerbations-in-patients-with-adcy5-mutation-a-case-series
#3
Ana Luísa de Almeida Marcelino, Tina Mainka, Patricia Krause, Werner Poewe, Christos Ganos, Andrea A Kühn
Mutations in the ADCY5 gene can cause a complex hyperkinetic movement disorder. Episodic exacerbations of dyskinesia are a particularly disturbing symptom as they occur predominantly during night and interrupt sleep. We present the clinical short- and long-term effects of pallidal deep brain stimulation (DBS) in three patients with a confirmed pathogenic ADCY5 mutation. Patients were implanted with bilateral pallidal DBS at the age of 34, 20 and 13 years. Medical records were reviewed for clinical history...
July 9, 2020: Journal of Neurology
https://read.qxmd.com/read/32642786/comment-on-structural-correlates-of-attention-dysfunction-in-lewy-body-dementia-and-alzheimer-s-disease-an-ex-gaussian-analysis
#4
LETTER
Daniela Andriuta, Alexandre Perron, Martine Roussel, Olivier Godefroy
No abstract text is available yet for this article.
July 8, 2020: Journal of Neurology
https://read.qxmd.com/read/32642785/yield-of-the-pmp22-deletion-analysis-in-patients-with-compression-neuropathies
#5
Vukan Ivanovic, Marija Brankovic, Bogdan Bjelica, Aleksandra Kacar, Radoje Tubic, Milena Jankovic, Ana Marjanovic, Ivana Novakovic, Vidosava Rakocevic-Stojanovic, Stojan Peric
INTRODUCTION: Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare neuromuscular disorder, mostly caused by PMP22 deletion. AIM: To determine a yield of the genetic analysis of PMP22 gene deletion in patients with compression neuropathies. METHOD: We included 112 patients with clinical suspicion of HNPP diagnosis. Nerve conduction studies (NCS) were performed for motor and sensory nerves bilaterally. Number of the PMP22 gene copies was determined using a real-time polymerase chain reaction (RT-PCR)...
July 8, 2020: Journal of Neurology
https://read.qxmd.com/read/32638112/urinary-neopterin-a-new-marker-of-the-neuroinflammatory-status-in-amyotrophic-lateral-sclerosis
#6
Christian Lunetta, Andrea Lizio, Francesca Gerardi, Claudia Tarlarini, Massimo Filippi, Nilo Riva, Lucio Tremolizzo, Susanna Diamanti, Cinzia Carla Dellanoce, Lorena Mosca, Valeria Ada Sansone, Jonica Campolo
OBJECTIVE: To comprehensively assess whether neopterin in urine could be a candidate biomarker for determining the neuroinflammatory status in ALS. METHODS: We performed an observational, cross-sectional study in 81 pALS, 68 age- and sex-comparable healthy controls (HC), 14 patients affected by MS and 24 OND patients. ALS patients underwent a neurological evaluation to assess the global functional status evaluated by Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) and the disease progression rate...
July 8, 2020: Journal of Neurology
https://read.qxmd.com/read/32638111/clinical-and-radiological-differences-between-patients-with-probable-cerebral-amyloid-angiopathy-and-mixed-cerebral-microbleeds
#7
Ulf R Jensen-Kondering, Caroline Weiler, Patrick Langguth, Naomi Larsen, Charlotte Flüh, Gregor Kuhlenbäumer, Olav Jansen, Nils G Margraf
BACKGROUND: The key imaging features of cerebral amyloid angiopathy (CAA) are lobar, cortical, or cortico-subcortical microbleeds, macrohaemorrhages and cortical superficial siderosis (cSS). In contrast, hypertensive angiopathy is characterized by (micro) haemorrhages in the basal ganglia, thalami, periventricular white matter or the brain stem. Another distinct form of haemorrhagic microangiopathy is mixed cerebral microbleeds (mixed CMB) with features of both CAA and hypertensive angiopathy...
July 8, 2020: Journal of Neurology
https://read.qxmd.com/read/32638110/disease-progression-but-not-physical-state-per-se-determines-mental-wellbeing-in-als
#8
Cynthia R Vázquez Medrano, Helena E A Aho-Özhan, Ulrike Weiland, Ingo Uttner, Albert C Ludolph, Dorothée Lulé
BACKGROUND: Studies provide inconclusive results on the question whether loss of mental wellbeing is actually associated with decline in physical function in amyotrophic lateral sclerosis (ALS). The purpose of this study was to determine predictors of mental wellbeing in ALS. METHODS: In total, n = 330 ALS patients were interviewed on parameters of mental wellbeing to evaluate the patients' capacity of psychosocial adaptation. These parameters were global and subjective quality of life (QoL), and depressiveness...
July 8, 2020: Journal of Neurology
https://read.qxmd.com/read/32638109/mild-covid-19-infection-in-an-nmo-patient-treated-with-tocilizumab-a-confirmation-of-anti-il-6-protective-role
#9
LETTER
Vittorio Mantero, Andrea Rigamonti, Paola Basilico, Marta Crespi, Roberto Balgera, Andrea Salmaggi
No abstract text is available yet for this article.
July 7, 2020: Journal of Neurology
https://read.qxmd.com/read/32638108/covid-19-reveals-influence-of-physical-activity-on-symptom-severity-in-hereditary-spastic-paraplegia
#10
LETTER
Lotte van de Venis, Bart P C van de Warrenburg, Vivian Weerdesteyn, Bas J H van Lith, Alexander C H Geurts, Jorik Nonnekes
No abstract text is available yet for this article.
July 7, 2020: Journal of Neurology
https://read.qxmd.com/read/32638107/impact-of-covid-19-on-u-s-and-canadian-neurologists-therapeutic-approach-to-multiple-sclerosis-a-survey-of-knowledge-attitudes-and-practices
#11
Farrah J Mateen, Shawheen Rezaei, Nicholas Alakel, Brittany Gazdag, Aditya Ravi Kumar, Andre Vogel
OBJECTIVE: To report the understanding and decision-making of neuroimmunologists and their treatment of patients with multiple sclerosis (MS) during the early stages of the SARS-CoV-2 (COVID-19) outbreak. METHODS: A survey instrument was designed and distributed online to neurologists in April 2020. RESULTS: There were 250 respondents (response rate 21.8%). 243 saw >  = 10 MS patients in the prior 6 months (average 197 patients) and were analyzed further (92% USA, 8% Canada; average practice duration 16 years; 5% rural, 17% small city, 38% large city, 40% highly urbanized)...
July 7, 2020: Journal of Neurology
https://read.qxmd.com/read/32638106/biomarkers-in-the-diagnosis-and-prognosis-of-alzheimer-s-disease
#12
N Davda, R Corkill
No abstract text is available yet for this article.
July 7, 2020: Journal of Neurology
https://read.qxmd.com/read/32638105/targeted-next-generation-sequencing-study-in-familial-als-ftd-portuguese-patients-negative-for-c9orf72-hre
#13
Marta Gromicho, Ana Margarida Coutinho, Ana Catarina Pronto-Laborinho, Rita Raposeiro, Joana Tavares, Diana Antunes, Mamede de Carvalho
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with clinical and etiological heterogeneity and a complex genetic contribution. Clinical, neuropathological, and genetic evidence revealed that ALS and frontotemporal dementia (FTD) are in part of a single disease continuum. Genetic causes have been identified in sporadic (SALS) and familial patients (FALS) and the recurrent genetic factor underlying ALS and FTD is the C9orf72 hexanucleotide repeat expansion (HRE). However, in our population, the concomitance of ALS and FTD cannot be explained by C9orf72 HRE in many FALS and SALS cases...
July 7, 2020: Journal of Neurology
https://read.qxmd.com/read/32638104/neurological-update-neuroimaging-in-dementia
#14
Timothy Rittman
Neuroimaging for dementia has made remarkable progress in recent years, shedding light on diagnostic subtypes of dementia, predicting prognosis and monitoring pathology. This review covers some updates in the understanding of dementia using structural imaging, positron emission tomography (PET), structural and functional connectivity, and using big data and artificial intelligence. Progress with neuroimaging methods allows neuropathology to be examined in vivo, providing a suite of biomarkers for understanding neurodegeneration and for application in clinical trials...
July 7, 2020: Journal of Neurology
https://read.qxmd.com/read/32623596/cell-based-assays-for-the-detection-of-mog-antibodies-a-comparative-study
#15
Matteo Gastaldi, Silvia Scaranzin, Sven Jarius, Brigitte Wildeman, Elisabetta Zardini, Giulia Mallucci, Eleonora Rigoni, Elisa Vegezzi, Thomas Foiadelli, Salvatore Savasta, Paola Banfi, Maurizio Versino, Luana Benedetti, Giovanni Novi, Margherita Maria Mancardi, Thea Giacomini, Pietro Annovazzi, Damiano Baroncini, Diana Ferraro, Vito Lampasona, Markus Reindl, Patrick Waters, Diego Franciotta
BACKGROUND: The detection of antibodies to myelin oligodendrocyte glycoprotein (MOG) is fundamental for the identification of MOG antibody-associated disorders (MOGAD), and the differential diagnosis of acquired demyelinating syndromes of the CNS, among which multiple sclerosis (MS). We compared the diagnostic performance of four cell-based assays (CBAs) for their detection. METHODS: Consecutive sera from 204 patients with 'possible MOGAD' (55), MS (112), and other neurological disorders (OND, 37) were tested for MOG-IgG with a live-CBA with anti-heavy-and-light chain secondary-antibody (LCBA-IgGH+L ), and a live-CBA for IgG1 (LCBA-IgG1 )...
July 4, 2020: Journal of Neurology
https://read.qxmd.com/read/32623595/treatment-of-mog-antibody-associated-disorders-results-of-an-international-survey
#16
D H Whittam, V Karthikeayan, E Gibbons, R Kneen, S Chandratre, O Ciccarelli, Y Hacohen, J de Seze, K Deiva, R Q Hintzen, B Wildemann, S Jarius, I Kleiter, K Rostasy, P Huppke, B Hemmer, F Paul, O Aktas, A K Pröbstel, G Arrambide, M Tintore, M P Amato, M Nosadini, M M Mancardi, M Capobianco, Z Illes, A Siva, A Altintas, G Akman-Demir, L Pandit, M Apiwattankul, J Y Hor, S Viswanathan, W Qiu, H J Kim, I Nakashima, K Fujihara, S Ramanathan, R C Dale, M Boggild, S Broadley, M A Lana-Peixoto, D K Sato, S Tenembaum, P Cabre, D M Wingerchuk, B G Weinshenker, B Greenberg, M Matiello, E C Klawiter, J L Bennett, A I Wallach, I Kister, B L Banwell, A Traboulsee, D Pohl, J Palace, M I Leite, M Levy, R Marignier, T Solomon, M Lim, S Huda, A Jacob
INTRODUCTION: While monophasic and relapsing forms of myelin oligodendrocyte glycoprotein antibody associated disorders (MOGAD) are increasingly diagnosed world-wide, consensus on management is yet to be developed. OBJECTIVE: To survey the current global clinical practice of clinicians treating MOGAD. METHOD: Neurologists worldwide with expertise in treating MOGAD participated in an online survey (February-April 2019). RESULTS: Fifty-two responses were received (response rate 60...
July 4, 2020: Journal of Neurology
https://read.qxmd.com/read/32623594/bi-allelic-variants-in-pnpla6-possibly-associated-with-parkinsonian-features-in-addition-to-spastic-paraplegia-phenotype
#17
Kuntal Sen, Melesilika Finau, Pritha Ghosh
Variants in the PNPLA6 gene are known to cause 4 distinct phenotypes. One known phenotype is Hereditary Spastic Paraplegia type 39 (HSP 39), a rare neurodegenerative condition characterized by variable onset of lower limb spasticity, weakness and ataxia. Little is known about complications of HSP 39 in adulthood. Here, we report a family of three siblings who presented with bilateral lower limb spasticity in childhood, consistent with HSP, with confirmed bi-allellic PNPLA6 mutations. Two siblings developed parkinsonian features in middle age, a novel finding in this sibship...
July 4, 2020: Journal of Neurology
https://read.qxmd.com/read/32621104/neurogenic-calf-amyotrophy-with-ck-elevation-by-entrapment-radiculopathy-clinical-radiological-and-pathological-analyses-of-18-cases
#18
Makoto Shibata, Hiroo Kasahara, Kouki Makioka, Masaki Ikeda, Kazuaki Nagashima, Yukio Fujita, Yoshio Ikeda
OBJECTIVE: To characterize the clinical, radiological, and pathological manifestations of 18 cases showing neurogenic calf amyotrophy with creatine kinase (CK) elevation by entrapment radiculopathy (NCACKEER). METHODS: We retrospectively reviewed and evaluated the medical records of patients who complained of weakness or atrophy of the calf muscles in our department between 2004 and 2019. We identified 18 cases fulfilling the proposed criteria of NCACKEER. We extracted neurological, laboratory, neurophysiological, and neuroradiological data from all cases...
July 3, 2020: Journal of Neurology
https://read.qxmd.com/read/32621103/reduced-accuracy-of-mri-deep-grey-matter-segmentation-in-multiple-sclerosis-an-evaluation-of-four-automated-methods-against-manual-reference-segmentations-in-a-multi-center-cohort
#19
Alexandra de Sitter, Tom Verhoeven, Jessica Burggraaff, Yaou Liu, Jorge Simoes, Serena Ruggieri, Miklos Palotai, Iman Brouwer, Adriaan Versteeg, Viktor Wottschel, Stefan Ropele, Mara A Rocca, Claudio Gasperini, Antonio Gallo, Marios C Yiannakas, Alex Rovira, Christian Enzinger, Massimo Filippi, Nicola De Stefano, Ludwig Kappos, Jette L Frederiksen, Bernard M J Uitdehaag, Frederik Barkhof, Charles R G Guttmann, Hugo Vrenken
BACKGROUND: Deep grey matter (DGM) atrophy in multiple sclerosis (MS) and its relation to cognitive and clinical decline requires accurate measurements. MS pathology may deteriorate the performance of automated segmentation methods. Accuracy of DGM segmentation methods is compared between MS and controls, and the relation of performance with lesions and atrophy is studied. METHODS: On images of 21 MS subjects and 11 controls, three raters manually outlined caudate nucleus, putamen and thalamus; outlines were combined by majority voting...
July 3, 2020: Journal of Neurology
https://read.qxmd.com/read/32617659/discontinuation-of-disease-modifying-treatments-for-multiple-sclerosis-in-patients-aged-over-50-with-disease-inactivity
#20
Anne-Laure Kaminsky, Abdou Yacoubou Omorou, Marc Soudant, Sophie Pittion-Vouyovitch, Maud Michaud, René Anxionnat, Francis Guillemin, Marc Debouverie, Guillaume Mathey
BACKGROUND: Treatments may become redundant in older patients with multiple sclerosis (MS). Our aim was to explore whether stopping treatments might be possible in patients aged over 50 with disease inactivity. METHODS: Patients over 50 were included from the population-based MS Lorraine registry if they had a relapsing-remitting course at onset and had experienced no relapse for ≥ 3 years. Patients who stopped treatments were defined as "stoppers", and the others as "stayers"...
July 2, 2020: Journal of Neurology
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