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Annals of Clinical and Translational Neurology

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https://www.readbyqxmd.com/read/28078317/corrigendum
#1
(no author information available yet)
[This corrects the article DOI: 10.1002/acn3.307.].
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078316/covert-narrative-capacity-mental-life-in-patients-thought-to-lack-consciousness
#2
Lorina Naci, Mackenzie Graham, Adrian M Owen, Charles Weijer
Despite the apparent absence of external signs of consciousness, a significant proportion of behaviorally nonresponsive patients can respond to commands by willfully modulating their brain activity. However, little is known about the mental life of these patients. We discuss a recent innovative approach, which sheds light on the preserved cognitive capacities of these patients, including executive function, theory of mind, and the experience of affective states. This research represents a fundamental shift in our understanding of these patients, and has important implications for both their continued treatment and care...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078315/degenerative-ataxias-challenges-in-clinical-research
#3
REVIEW
Sub H Subramony
The degenerative ataxias are a very heterogeneous group of disorders that include numerous genetic diseases as well as apparently "sporadic" entities. There has been an explosion of discoveries related to genetic defects and related pathomechanisms that has brought us to the threshold of meaningful therapies in some but not all of these diseases. There also continues to be lack of knowledge of the causation of disease in a sizeable proportion of these patients. The overall rarity of ataxias as a whole and certainly of the individual genetic entities together with slow and variable progression and variable prognosis in juxtaposition with a rapid development of possible therapies in the horizon such as gene replacement and gene knock-down strategies places the ataxias in a unique position distinct from other similar neurodegenerative diseases...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078314/onset-of-secondary-progressive-ms-after-long-term-rituximab-therapy-a-case-report
#4
H-Christian von Büdingen, Antje Bischof, Erica L Eggers, Shengzhi Wang, Carolyn J Bevan, Bruce A C Cree, Roland G Henry, Stephen L Hauser
A patient with relapsing multiple sclerosis (RMS) was treated with a standard immunomodulatory therapy, but due to ongoing disease activity was switched to rituximab. Relapses ceased, but secondary progressive MS (SPMS) eventually appeared, associated with new focal spinal cord white matter lesions. Cerebrospinal fluid (CSF) showed persistent oligoclonal bands (OCB) and clonally related B cells in CSF and peripheral blood. The treatment escalation approach failed to prevent evolution to SPMS, raising the question of whether initiation of B-cell depleting therapy at the time of RMS diagnosis should be tested to more effectively address the immune pathology leading to SPMS...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078313/unilobar-surgery-for-symptomatic-epileptic-spasms
#5
Carmen Barba, Roberto Mai, Laura Grisotto, Francesca Gozzo, Simona Pellacani, Laura Tassi, Stefano Francione, Flavio Giordano, Francesco Cardinale, Renzo Guerrini
OBJECTIVE: To assess factors associated with favorable seizure outcome after surgery for symptomatic epileptic spasms and improve knowledge on pathophysiology of this seizure type. METHODS: Inclusion criteria were: (1) age between 6 months and 15 years at surgery; (2) active epileptic spasms; (3) follow-up after surgery >1 year. RESULTS: We retrospectively studied 80 children (aged 1.3 ± 2 years at seizure onset; 5.8 ± 4 years at surgery, 11...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#6
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078311/common-variant-rs356182-near-snca-defines-a-parkinson-s-disease-endophenotype
#7
Christine A Cooper, Nimansha Jain, Michael D Gallagher, Daniel Weintraub, Sharon X Xie, Yosef Berlyand, Alberto J Espay, Joseph Quinn, Karen L Edwards, Thomas Montine, Vivianna M Van Deerlin, John Trojanowski, Cyrus P Zabetian, Alice S Chen-Plotkin
OBJECTIVE: Parkinson's disease (PD) presents clinically with several motor subtypes that exhibit variable treatment response and prognosis. Here, we investigated genetic variants for their potential association with PD motor phenotype and progression. METHODS: We screened 10 SNPs, previously associated with PD risk, for association with tremor-dominant (TD) versus postural-instability gait disorder (PIGD) motor subtypes. SNPs that correlated with the TD/PIGD ratio in a discovery cohort of 251 PD patients were then evaluated in a multi-site replication cohort of 559 PD patients...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078310/polg2-deficiency-causes-adult-onset-syndromic-sensory-neuropathy-ataxia-and-parkinsonism
#8
Lionel Van Maldergem, Arnaud Besse, Boel De Paepe, Emma L Blakely, Vivek Appadurai, Margaret M Humble, Juliette Piard, Kate Craig, Langping He, Pierre Hella, François-Guillaume Debray, Jean-Jacques Martin, Marion Gaussen, Patrice Laloux, Giovanni Stevanin, Rudy Van Coster, Robert W Taylor, William C Copeland, Eric Mormont, Penelope E Bonnen
OBJECTIVE: Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult-onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable combination with parkinsonism, seizures, cognitive decline, and ophthalmoplegia. We sought to identify the underlying molecular etiology and characterize the mitochondrial pathophysiology of this neurological syndrome...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27844035/intravenous-thrombolysis-in-acute-ischemic-stroke-after-dabigatran-reversal-with-idarucizumab-a-case-report
#9
Johannes Sebastian Mutzenbach, Slaven Pikija, Ferdinand Otto, Ursula Halwachs, Friedrich Weymayr, Johann Sellner
Much excitement has been generated with the approval of idarucizumab, a humanized monoclonal antigen-binding antibody fragment that is capable of reversing the anticoagulant activity of dabigatran. Here, we describe our initial experience of using tissue plasminogen activator (tPA) in an acute posterior circulation ischemic stroke after dabigatran reversal with idarucizumab. Both treatments were well tolerated and no hemorrhagic or procoagulatory complications were observed. We propose that the option of dabigatran reversal needs to be considered for contemporary treatment concepts of acute ischemic stroke...
November 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27844034/neural-coupling-of-cooperative-hand-movements-after-stroke-role-of-ipsilateral-afference
#10
Miriam Schrafl-Altermatt, Volker Dietz
We investigated the role of ipsilateral ascending pathways in the neural coupling underlying cooperative hand movements of stroke subjects. Ipsi- and contralateral somatosensory evoked potentials (SSEP) were recorded following ulnar nerve stimulation during cooperative and non-cooperative hand movements. The amplitude ratio, that is, ipsilateral divided by contralateral amplitude, was highest during the cooperative task when the affected arm was stimulated, reflecting an enhanced afferent volley to the unaffected hemisphere...
November 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27844033/novel-nalcn-variant-altered-respiratory-and-circadian-rhythm-anesthetic-sensitivity
#11
Bernarda Lozic, Stefan Johansson, Sanja Lovric Kojundzic, Josko Markic, Per Morten Knappskog, Angelika F Hahn, Helge Boman
The sodium leak channel, a Na(+)-permeable, nonselective cation channel, is widely expressed in the nervous system, contributing a basal Na(+)-leak conductance and regulating neuronal excitability. A 3-year-old girl, heterozygous for a de novo missense mutation in NALCN (c.956C>T; p.Ala319Val) predicted to be deleterious, presented from birth with: stimulus-induced, episodic contractures of the limbs and face with associated respiratory distress; distal arthrogryposis; severe axial hypotonia; and severe global developmental delay (CLIFAHDD syndrome)...
November 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27844032/predicting-disease-progression-in-amyotrophic-lateral-sclerosis
#12
Albert A Taylor, Christina Fournier, Meraida Polak, Liuxia Wang, Neta Zach, Mike Keymer, Jonathan D Glass, David L Ennist
OBJECTIVE: It is essential to develop predictive algorithms for Amyotrophic Lateral Sclerosis (ALS) disease progression to allow for efficient clinical trials and patient care. The best existing predictive models rely on several months of baseline data and have only been validated in clinical trial research datasets. We asked whether a model developed using clinical research patient data could be applied to the broader ALS population typically seen at a tertiary care ALS clinic. METHODS: Based on the PRO-ACT ALS database, we developed random forest (RF), pre-slope, and generalized linear (GLM) models to test whether accurate, unbiased models could be created using only baseline data...
November 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27844031/clinical-and-biophysical-characterization-of-19-gjb1-mutations
#13
Pei-Chien Tsai, De-Ming Yang, Yi-Chu Liao, Tai-Yu Chiu, Hung-Chou Kuo, Yu-Ping Su, Yuh-Cherng Guo, Bing-Wen Soong, Kon-Ping Lin, Yo-Tsen Liu, Yi-Chung Lee
OBJECTIVE: Charcot-Marie-Tooth disease type X1 (CMTX1), which is caused by mutations in the gap junction (GJ) protein beta-1 gene (GJB1), is the second most common form of Charcot-Marie-Tooth disease (CMT). GJB1 encodes the GJ beta-1 protein (GJB1), which forms GJs within the myelin sheaths of peripheral nerves. The process by which GJB1 mutants cause neuropathy has not been fully elucidated. This study evaluated the biophysical characteristics of GJB1 mutants and their correlations with the clinical features of CMTX1 patients...
November 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27844030/archetypal-notch3-mutations-frequent-in-public-exome-implications-for-cadasil
#14
Julie W Rutten, Hans G Dauwerse, Gido Gravesteijn, Martine J van Belzen, Jeroen van der Grond, James M Polke, Manuel Bernal-Quiros, Saskia A J Lesnik Oberstein
OBJECTIVE: To determine the frequency of distinctive EGFr cysteine altering NOTCH3 mutations in the 60,706 exomes of the exome aggregation consortium (ExAC) database. METHODS: ExAC was queried for mutations distinctive for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), namely mutations leading to a cysteine amino acid change in one of the 34 EGFr domains of NOTCH3. The genotype-phenotype correlation predicted by the ExAC data was tested in an independent cohort of Dutch CADASIL patients using quantified MRI lesions...
November 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27844029/dose-dependent-inhibition-of-demyelination-and-microglia-activation-by-ivig
#15
Meike Winter, Christine Baksmeier, Julia Steckel, Sumanta Barman, Manish Malviya, Melanie Harrer-Kuster, Hans-Peter Hartung, Norbert Goebels
OBJECTIVE: Intravenous immunoglobulin (IVIG) is an established treatment for numerous autoimmune conditions. Clinical trials of IVIG for multiple sclerosis, using diverse dose regimens, yielded controversial results. The aim of this study is to dissect IVIG effector mechanisms on demyelination in an ex vivo model of the central nervous system (CNS)-immune interface. METHODS: Using organotypic cerebellar slice cultures (OSC) from transgenic mice expressing green fluorescent protein (GFP) in oligodendrocytes/myelin, we induced extensive immune-mediated demyelination and oligodendrocyte loss with an antibody specific for myelin oligodendrocyte glycoprotein (MOG) and complement...
November 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27752517/respiratory-training-in-an-individual-with-amyotrophic-lateral-sclerosis
#16
Lauren C Tabor, Karen M Rosado, Raele Robison, Karen Hegland, Ianessa A Humbert, Emily K Plowman
We examined the impact of expiratory muscle strength training on maximum expiratory pressure, cough spirometry, and disease progression in a 71-year-old male with amyotrophic lateral sclerosis. Maximum expiratory pressure declined 9% over an 8-week sham training period, but subsequently improved by 102% following 8 weeks of expiratory muscle strength training. Improvements in cough spirometry and mitigated disease progression were also observed post expiratory muscle strength training. Improvements in maximum expiratory pressures were maintained 6 months following expiratory muscle strength training and were 79% higher than baseline data obtained 301 days prior...
October 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27752516/alpha-synuclein-rt-quic-in-the-csf-of-patients-with-alpha-synucleinopathies
#17
Graham Fairfoul, Lynne I McGuire, Suvankar Pal, James W Ironside, Juliane Neumann, Sharon Christie, Catherine Joachim, Margaret Esiri, Samuel G Evetts, Michal Rolinski, Fahd Baig, Claudio Ruffmann, Richard Wade-Martins, Michele T M Hu, Laura Parkkinen, Alison J E Green
We have developed a novel real-time quaking-induced conversion RT-QuIC-based assay to detect alpha-synuclein aggregation in brain and cerebrospinal fluid from dementia with Lewy bodies and Parkinson's disease patients. This assay can detect alpha-synuclein aggregation in Dementia with Lewy bodies and Parkinson's disease cerebrospinal fluid with sensitivities of 92% and 95%, respectively, and with an overall specificity of 100% when compared to Alzheimer and control cerebrospinal fluid. Patients with neuropathologically confirmed tauopathies (progressive supranuclear palsy; corticobasal degeneration) gave negative results...
October 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27752515/rapid-number-naming-in-chronic-concussion-eye-movements-in-the-king-devick-test
#18
John-Ross Rizzo, Todd E Hudson, Weiwei Dai, Joel Birkemeier, Rosa M Pasculli, Ivan Selesnick, Laura J Balcer, Steven L Galetta, Janet C Rucker
OBJECTIVE: The King-Devick (KD) test, which is based on rapid number naming speed, is a performance measure that adds vision and eye movement assessments to sideline concussion testing. We performed a laboratory-based study to characterize ocular motor behavior during the KD test in a patient cohort with chronic concussion to identify features associated with prolonged KD reading times. METHODS: Twenty-five patients with a concussion history (mean age: 31) were compared to control participants with no concussion history (n = 42, mean age: 32)...
October 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27752514/white-matter-hyperintensities-incident-mild-cognitive-impairment-and-cognitive-decline-in-old-age
#19
Patricia A Boyle, Lei Yu, Debra A Fleischman, Sue Leurgans, Jingyun Yang, Robert S Wilson, Julie A Schneider, Zoe Arvanitakis, Konstantinos Arfanakis, David A Bennett
OBJECTIVE: Examine the association of white matter hyperintensities (WMH) with risk of incident mild cognitive impairment (MCI) and rate of decline in multiple cognitive systems in community-based older persons. METHODS: Participants (n = 354) were older persons initially free of cognitive impairment from two ongoing longitudinal epidemiologic studies of aging. All underwent brain magnetic resonance imaging (MRI) for quantification of WMH and gray matter volumes and detailed annual clinical evaluations including 17 cognitive tests...
October 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27752513/longitudinal-profile-of-iron-accumulation-in-good-grade-subarachnoid-hemorrhage
#20
Christoph Scherfler, Alois Josef Schiefecker, Margarete Delazer, Ronny Beer, Thomas Bodner, Georg Spinka, Mario Kofler, Bettina Pfausler, Christian Kremser, Michael Schocke, Thomas Benke, Elke R Gizewski, Erich Schmutzhard, Raimund Helbok
OBJECTIVE: MRI parameters of iron concentration (R2*, transverse relaxation rate), microstructural integrity (mean diffusivity and fractional anisotropy), as well as gray and white matter volumes were analyzed in patients with subarachnoid hemorrhage (SAH) and uncomplicated clinical course to detect the evolution of brain tissue changes 3 weeks and 12 months after ictus. METHODS: MRI scans of 14 SAH patients (aneurysm of the anterior communicating artery, n = 5; no aneurysm n = 9) were compared with 14 age-matched healthy control subjects...
October 2016: Annals of Clinical and Translational Neurology
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