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Annals of Clinical and Translational Neurology

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https://www.readbyqxmd.com/read/30128327/reply-to-a-genomic-cause-of-cerebral-palsy-should-not-change-the-clinical-classification
#1
Yusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, Shigeo Kure
No abstract text is available yet for this article.
August 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30128326/a-genomic-cause-of-cerebral-palsy-should-not-change-the-clinical-classification
#2
Alastair MacLennan, Jozef Gecz, Luis Pérez-Jurado
No abstract text is available yet for this article.
August 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30128325/paroxysmal-motor-disorders-expanding-phenotypes-lead-to-coalescing-genotypes
#3
REVIEW
Laura Zima, Sophia Ceulemans, Gail Reiner, Serena Galosi, Dillon Chen, Michelle Sahagian, Richard H Haas, Keith Hyland, Jennifer Friedman
Paroxysmal movement disorders encompass varied motor phenomena. Less recognized features and wide phenotypic and genotypic heterogeneity are impediments to straightforward molecular diagnosis. We describe a family with episodic ataxia type 1, initially mis-characterized as paroxysmal dystonia to illustrate this diagnostic challenge. We summarize clinical features in affected individuals to highlight underappreciated aspects and provide comprehensive phenotypic description of the rare familial KCNA1 mutation...
August 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30128324/unexpected-good-outcome-in-severe-cerebral-fat-embolism-syndrome
#4
Bertrand Hermann, Hélène Brisson, Olivier Langeron, Nadya Pyatigorskaya, Julie Paquereau, Hélène Robert, Johan Stender, Marie-Odile Habert, Lionel Naccache, Antoine Monsel
In this case study, we report the longitudinal and multimodal follow-up of a catastrophic initial presentation of cerebral fat embolism syndrome. We show that despite the initial severity, the cognitive outcome was ultimately very good but with a highly nonlinear time-course and prolonged loss of consciousness (more than 2 months). Repeated clinical assessments and brain-imaging techniques (electroencephalography, event-related potential, 18 -Fluoro-Deoxy-Glucose-PET and magnetic resonance imaging) allowed us to monitor and anticipate this dynamic, providing relevant information to guide decision making in front of withdrawal of life-sustaining therapy discussions...
August 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30128323/-mapt-deletion-fails-to-rescue-premature-lethality-in-two-models-of-sodium-channel-epilepsy
#5
Chunling Chen, Jerrah K Holth, Rosie Bunton-Stasyshyn, Charles K Anumonwo, Miriam H Meisler, Jeffrey L Noebels, Lori L Isom
Deletion of Mapt , encoding the microtubule-binding protein Tau, prevents disease in multiple genetic models of hyperexcitability. To investigate whether the effect of Tau depletion is generalizable across multiple sodium channel gene-linked models of epilepsy, we examined the Scn1b -/- mouse model of Dravet syndrome, and the Scn8a N1768D/+ model of Early Infantile Epileptic Encephalopathy. Both models display severe seizures and early mortality. We found no prolongation of survival between Scn1b -/- ,Mapt +/+ , Scn1b -/- ,Mapt +/-, or Scn1b -/- ,Mapt -/- mice or between Scn8a N1768D/+ ,Mapt +/+ , Scn8a N1768D/+ ,Mapt +/- , or Scn8a N1768D/+ ,Mapt -/- mice...
August 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30128322/olfactory-dysfunction-in-amyotrophic-lateral-sclerosis
#6
Cristina Viguera, Jiangxia Wang, Elizabeth Mosmiller, Aiana Cerezo, Nicholas J Maragakis
We utilized the well-validated University of Pennsylvania Smell Identification Test (UPSIT) to examine whether olfactory dysfunction occurs in ALS participants. After adjusting for relevant confounders in a multiple linear regression model, ALS participants scored significantly lower on the UPSIT compared with control participants, with an estimated mean difference of 2.31 points ( P = 0.015). ALS participants also had twice the rate of olfactory dysfunction (microsmia or anosmia). This study suggests that olfactory dysfunction exists in ALS patients, which expands our understanding of the extramotor findings in ALS...
August 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30128321/primary-resistance-of-human-patients-to-botulinum-neurotoxins-a-and-b
#7
Marco Pirazzini, Stefan Carle, Holger Barth, Ornella Rossetto, Cesare Montecucco
Botulinum neurotoxin serotypes A and B are successfully used to treat a variety of human diseases characterized by hyperactive peripheral nerve terminals. However, a number of patients are primary resistant to these pharmaceuticals, without having antitoxin-neutralizing antibodies. A straightforward explanation of this phenomenon posits that mutations of the toxin sites of interaction with their receptors or protein substrates prevent their neuroparalytic action. After a careful investigation of available human genomic databases, we conclude that it is very unlikely that humans are resistant to these two therapeutic neurotoxins because of mutations that would affect their binding or intracellular proteolytic actions...
August 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30128320/ccl2-and-cxcl10-are-associated-with-poor-outcome-after-intracerebral-hemorrhage
#8
Margaret J Landreneau, Michael T Mullen, Steven R Messé, Brett Cucchiara, Kevin N Sheth, Louise D McCullough, Scott E Kasner, Lauren H Sansing
Objective: Intracerebral hemorrhage carries a high mortality and survivors are frequently left with significant disability. Immunological mechanisms may play an important role in hemorrhage-induced brain injury, however, research linking these mechanisms with clinical outcome remains limited. We aim to identify serum inflammatory mediators that are associated with outcome after intracerebral hemorrhage in order to translate data from experimental models to a patient cohort and identify potential targets worthy of reverse translation...
August 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30128319/multifocal-visual-evoked-potentials-in-chronic-inflammatory-demyelinating-polyneuropathy
#9
Jonas Graf, Lea Jansen, Jens Ingwersen, Marius Ringelstein, Jens Harmel, Jana Rybak, Robert Kolbe, Laura Rhöse, Lena Gemerzki, John-Ih Lee, Alexander Klistorner, Rainer Guthoff, Hans-Peter Hartung, Orhan Aktas, Philipp Albrecht
Objective: Studies using conventional full-field visual evoked potentials (ffVEP) have reported subtle abnormalities in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). We hypothesize that these abnormalities can be detected in the majority of CIDP patients using enhanced methods. Methods: We performed a cross-sectional noninterventional study comparing 18 CIDP patients and 18 matched healthy controls using multifocal VEP (mfVEP) as a technique with enhanced sensitivity to detect conduction abnormalities across the spectrum of optic nerve fibers...
August 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30128318/monoclonal-antibodies-from-a-patient-with-anti-nmda-receptor-encephalitis
#10
Rashmi Sharma, Fetweh H Al-Saleem, Jessica Panzer, Jiwon Lee, Rama Devudu Puligedda, Liza F Felicori, Chandana Devi Kattala, Amy J Rattelle, Gregory Ippolito, Robert H Cox, David R Lynch, Scott K Dessain
Objective: Anti-NMDA receptor encephalitis (ANRE) is a potentially lethal encephalitis attributed to autoantibodies against the N -methyl-D-aspartate receptor (NMDAR). We sought to clone and characterize monoclonal antibodies (mAbs) from an ANRE patient. Methods: We used a hybridoma method to clone two IgG mAbs from a female patient with ANRE without teratoma, and characterized their binding activities on NMDAR-transfected cell lines, cultured primary rat neurons, and mouse hippocampus...
August 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30128317/alzheimer-s-genetic-risk-is-reduced-in-primary-age-related-tauopathy-a-potential-model-of-resistance
#11
Corey T McMillan, Edward B Lee, Kyra Jefferson-George, Adam Naj, Vivianna M Van Deerlin, John Q Trojanowski, David A Wolk
Objective: Nearly all adults >50 years of age have evidence for neurofibrillary tau tangles (NFTs) and a significant proportion of individuals additionally develop amyloid plaques (A β ) consistent with Alzheimer's disease (AD). In an effort to identify the independent genetic risk factors for NFTs and A β , we investigated genotypic frequencies of AD susceptibility loci between autopsy-confirmed AD and primary age-related tauopathy (PART), a neuropathological condition defined by characteristic neurofibrillary tau tangles (NFTs) with minimal or absent A β ...
August 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30128316/placebo-controlled-phase-2-trial-of-drisapersen-for-duchenne-muscular-dystrophy
#12
Craig M McDonald, Brenda Wong, Kevin M Flanigan, Rosamund Wilson, Sjef de Kimpe, Afrodite Lourbakos, Zhengning Lin, Giles Campion
Objective: This double-blind, randomized, placebo-controlled Phase 2 study (NCT01462292) assessed the 24-week efficacy, safety, tolerability, and pharmacokinetics of two different subcutaneous drisapersen doses, and the 24-week off-dose persistent effect, in ambulant Duchenne muscular dystrophy (DMD) patients. Methods: Male DMD patients (≥5 years; time to rise from floor ≤15 s) were randomized to drisapersen 3 mg/kg/week, 6 mg/kg/week or placebo. The primary efficacy endpoint was change from baseline in 6-minute walking distance (6MWD) at week 24...
August 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30128315/7-tesla-mri-of-balo-s-concentric-sclerosis-versus-multiple-sclerosis-lesions
#13
Janina R Behrens, Julia Wanner, Joseph Kuchling, Lennard Ostendorf, Lutz Harms, Klemens Ruprecht, Thoralf Niendorf, Sven Jarius, Brigitte Wildemann, René M Gieß, Michael Scheel, Judith Bellmann-Strobl, Jens Wuerfel, Friedemann Paul, Tim Sinnecker
Background: Baló's concentric sclerosis (BCS) is a rare condition characterized by concentrically layered white matter lesions. While its pathogenesis is unknown, hypoxia-induced tissue injury and chemotactic stimuli have been proposed as potential causes of BCS lesion formation. BCS has been suggested to be a variant of multiple sclerosis (MS). Here, we aimed to elucidate similarities and differences between BCS and MS by describing lesion morphology and localization in high-resolution 7 Tesla (7 T) magnetic resonance imaging (MRI) scans...
August 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30009209/corrigendum
#14
(no author information available yet)
[This corrects the article DOI: 10.1002/acn3.533.].
July 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30009208/using-automated-electrode-localization-to-guide-stimulation-management-in-dbs
#15
Mikkel V Petersen, Andreas Husch, Christine E Parsons, Torben E Lund, Niels Sunde, Karen Østergaard
Deep Brain Stimulation requires extensive postoperative testing of stimulation parameters to achieve optimal outcomes. Testing is typically not guided by neuroanatomical information on electrode contact locations. To address this, we present an automated reconstruction of electrode locations relative to the treatment target, the subthalamic nucleus, comparing different targeting methods: atlas-, manual-, or tractography-based subthalamic nucleus segmentation. We found that most electrode contacts chosen to deliver stimulation were closest or second closest to the atlas-based subthalamic nucleus target...
July 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30009207/csf-nonphosphorylated-tau-as-a-biomarker-for-the-discrimination-of-ad-from-cjd
#16
Natalia Ermann, Piotr Lewczuk, Matthias Schmitz, Peter Lange, Tobias Knipper, Stefan Goebel, Johannes Kornhuber, Inga Zerr, Franc Llorens
Creutzfeldt-Jakob disease and Alzheimer's disease are characterized by the presence of elevated total-Tau cerebrospinal fluid concentrations while the presence of hyperphosphorylated Tau forms in the cerebrospinal fluid is rather a hallmark of Alzheimer's disease. Here we aimed to investigate potential contribution of nonphospho-Tau epitopes (non-P-Tau) in the discrimination between both diseases. Non-P-Tau cerebrospinal fluid concentration was highly increased in Creutzfeldt-Jakob disease ( n = 57, 3683 ± 3599 pg/mL) compared to Alzheimer's disease ( n = 41, 148 ± 219 pg/mL) and neurological controls ( n = 56, 62 ± 40 pg/mL), and significantly improved the proportion of correctly classified patients (99%) compared to that achieved by total-Tau (90%), P-Tau (62%) and 14-3-3 (91%)...
July 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30009206/serum-neurofilament-light-chain-is-increased-in-hereditary-spastic-paraplegias
#17
Carlo Wilke, Tim W Rattay, Holger Hengel, Milan Zimmermann, Kathrin Brockmann, Ludger Schöls, Jens Kuhle, Rebecca Schüle, Matthis Synofzik
Blood biomarkers are still largely missing in hereditary spastic paraplegias (HSPs). We here explored Neurofilament light chain (NfL) as a biomarker in HSP. Serum NfL was assessed in 96 HSP (63 genetically confirmed), 96 healthy control, and 33 ALS subjects by single molecule array (Simoa). Compared to controls, NfL was increased in HSP ( P < 0.001), correlating with cross-sectional disease progression ( ρ = 0.28). Levels were lower than in ALS ( P < 0.001), allowing to differentiate HSP from ALS (AUC = 0...
July 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30009205/immunosuppressants-and-risk-of-parkinson-disease
#18
Brad A Racette, Anat Gross, Scott Martin Vouri, Alejandra Camacho-Soto, Allison W Willis, Susan Searles Nielsen
We performed a population-based case-control study of United States Medicare beneficiaries age 60-90 in 2009 with prescription data (48,295 incident Parkinson disease cases and 52,324 controls) to examine the risk of Parkinson disease in relation to use of immunosuppressants. Inosine monophosphate dehydrogenase inhibitors (relative risk = 0.64; 95% confidence interval 0.51-0.79) and corticosteroids (relative risk = 0.80; 95% confidence interval 0.77-0.83) were both associated with a lower risk of Parkinson disease...
July 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30009204/pallidal-deep-brain-stimulation-and-intraoperative-neurophysiology-for-treatment-of-poststroke-hemiballism
#19
Adolfo Ramirez-Zamora, Robert S Eisinger, Sameah A Haider, Youngwon Youn, Damian Shin, Eric S Molho, Julie G Pilitsis
Deep brain stimulation is a recognized and effective treatment for several movement disorders. Nevertheless, the efficacy of this intervention on abnormal movements secondary to structural brain pathologies is less consistent. In this report, we describe a case of hemiballism-hemichorea due to a peripartum ischemic stroke-treated with deep brain stimulation of the globus pallidus internus. Patient observed marked improvement in her symptoms at long-term follow-up. Neurophysiologic data revealed lower globus pallidus internus firing rates compared to other hyperkinetic disorders...
July 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30009203/combined-transcranial-magnetic-stimulation-in-the-treatment-of-chronic-tinnitus
#20
Martin Formánek, Petra Migaľová, Petra Krulová, Michal Bar, Debora Jančatová, Hana Zakopčanová-Srovnalová, Hana Tomášková, Karol Zeleník, Pavel Komínek
Objective: Repetitive transcranial magnetic stimulation (rTMS) is currently being tested for suppressing the symptoms of subjective chronic primary tinnitus, although its effect is controversial. The aim of this randomized double-blinded controlled trial was to determine the effect of rTMS with unique settings for tinnitus treatment. Methods: Fifty-three adult patients suffering from chronic subjective unilateral or bilateral nonpulsatile primary tinnitus for at least 6 months were randomly assigned to rTMS (group 1, n = 20), sham stimulation (group 2, n = 12), or medicament therapy only (group 3, n = 21)...
July 2018: Annals of Clinical and Translational Neurology
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