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Annals of Neurology

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https://www.readbyqxmd.com/read/29691892/congenital-titinopathy-comprehensive-characterisation-and-pathogenic-insights
#1
Emily C Oates, Kristi J Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E Smith, James S Ware, Kyle S Yau, Lindsay C Swanson, Nicola Whiffin, Anthony J Peduto, Adam Bournazos, Leigh B Waddell, Michelle A Farrar, Hugo A Sampaio, Hooi Ling Teoh, Phillipa J Lamont, David Mowat, Robin B Fitzsimons, Alastair J Corbett, Monique M Ryan, Gina L O'Grady, Sarah A Sandaradura, Roula Ghaoui, Himanshu B Joshi, Jamie L Marshall, Melinda A Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E Leach, A Reghan Foley, Diana Bharucha-Goebel, James Collins, Anne M Connolly, Heather R Gilbreath, Susan T Iannaccone, Diana Castro, Beryl B Cummings, Richard I Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho-Ming Luk, Neil H Thomas, Nicola C Foulds, Marjorie A Illingworth, Sian Ellard, Catriona A McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T Cooper, Erik-Jan Kamsteeg, Eric P Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N North, Nigel F Clarke, Monkol Lek, Alan H Beggs, Carsten G Bönnemann, Daniel G MacArthur, Henk Granzier, Mark R Davis, Nigel G Laing
OBJECTIVE: Comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively parallel sequencing we identified 30 patients from 27 families with two pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathology and imaging features of these patients. RESULTS: All patients had prenatal- or early-onset hypotonia and/or congenital contractures...
April 25, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29689135/intravenous-thrombolysis-in-unwitnessed-stroke-onset-mr-witness-trial-results
#2
Lee H Schwamm, Ona Wu, Shlee S Song, Lawrence L Latour, Andria L Ford, Amie W Hsia, Alona Muzikansky, Rebecca A Betensky, Albert J Yoo, Michael H Lev, Gregoire Boulouis, Arne Lauer, Pedro Cougo, William A Copen, Gordon J Harris, Steven Warach
OBJECTIVE: Most acute ischemic stroke (AIS) patients with unwitnessed symptom onset are ineligible for intravenous thrombolysis due to timing alone. Lesion evolution on FLAIR MRI correlates with stroke duration, and quantitative mismatch of diffusion-weighted MRI (DWI) with FLAIR (qDFM) might indicate stroke duration within guideline-recommended thrombolysis. We tested if intravenous thrombolysis ≤4.5 h from time of symptom discovery is safe in patients with qDFM in an open-label, phase 2a, prospective study (NCT01282242)...
April 24, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29679441/feasibility-safety-and-outcome-of-recanalisation-treatment-in-childhood-stroke
#3
Sandra Bigi, Andrea Dulcey, Jan Gralla, Corrado Bernasconi, Amber Melliger, Alexandre N Datta, Marcel Arnold, Johannes Kaesmacher, Joel Fluss, Annette Hackenberg, Oliver Maier, Johannes Weber, Claudia Poloni, Urs Fischer, Maja Steinlin
Objective Intravenous thrombolysis and endovascular therapy (IVT/EVT) are evidence-based treatments for adults with arterial ischemic stroke (AIS). However, randomized controlled trials in pediatric patients are lacking. This study aimed to describe feasibility, safety, and outcome of IVT/EVT in children with AIS. Methods Retrospective study (01/2000-12/2015) of a multicenter, population-based consecutive cohort of patients aged 1 month - 16 years diagnosed with AIS presenting with a pedNIHSS ≥4. Clinical and radiological data of patients receiving IVT/EVT were compared to those receiving standard care (SC) using linear regression to adjust for potential confounders...
April 20, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29679417/a-probiotic-modulates-the-microbiome-and-immunity-in-multiple-sclerosis
#4
Stephanie K Tankou, Keren Regev, Brian C Healy, Emily Tjon, Luca Laghi, Laura M Cox, Pia Kivisäkk, Isabelle V Pierre, Hrishikesh Lokhande, Roopali Gandhi, Sandra Cook, Bonnie Glanz, James Stankiewicz, Howard L Weiner
OBJECTIVE: Effect of a probiotic on the gut microbiome and peripheral immune function in healthy controls and relapsing-remitting multiple sclerosis (RRMS) patients. METHODS: MS patients (N=9) and controls (N=13) were orally administered a probiotic containing Lactobacillus, Bifidobacterium and Streptococcus twice daily for two months. Blood and stool specimens were collected at baseline, after completion of the 2-month treatment, and 3 months after discontinuation of therapy...
April 20, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29679388/somatic-slc35a2-variants-in-the-brain-are-associated-with-intractable-neocortical-epilepsy
#5
Melodie R Winawer, Nicole G Griffin, Jorge Samanamud, Evan H Baugh, Dinesh Rathakrishnan, Senthilmurugan Ramalingam, David Zagzag, Catherine A Schevon, Patricia Dugan, Manu Hegde, Sameer A Sheth, Guy M McKhann, Werner K Doyle, Gerald A Grant, Brenda E Porter, Mohamad A Mikati, Carrie R Muh, Colin D Malone, Ann Marie R Bergin, Jurriaan M Peters, Danielle K McBrian, Alison M Pack, Cigdem I Akman, Christopher M LaCoursiere, Katherine M Keever, Joseph R Madsen, Edward Yang, Hart G W Lidov, Catherine Shain, Andrew S Allen, Peter Canoll, Peter B Crino, Annapurna H Poduri, Erin L Heinzen
OBJECTIVE Somatic variants are a recognized cause of epilepsy-associated focal malformations of cortical development (MCD). We hypothesized that somatic variants may underlie a wider range of focal epilepsy, including non-lesional focal epilepsy (NLFE). Through genetic analysis of brain tissue, we evaluated the role of somatic variation in focal epilepsy with and without MCD. METHODS We identified somatic variants through high-depth exome and ultra-high-depth candidate gene sequencing of DNA from epilepsy surgery specimens and leukocytes from 18 individuals with NLFE and 38 with focal MCD...
April 20, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29665155/defining-mechanisms-of-neural-plasticity-after-brainstem-ischemia-in-rats
#6
Jens Minnerup, Jan-Kolja Strecker, Lydia Wachsmuth, Maike Hoppen, Antje Schmidt, Dirk M Hermann, Heinz Wiendl, Sven Meuth, Cornelius Faber, Kai Diederich, Wolf Rüdiger Schäbitz
OBJECTIVE: Neurological recovery after stroke mainly depends on the location of the lesion. A substantial portion of strokes affects the brainstem. However, patterns of neural plasticity following brainstem ischemia are almost unknown. METHODS: Here, we established a rat brainstem ischemia model that resembles key features of the human disease and investigated mechanisms of neural plasticity including neurogenesis and axonal sprouting as well as secondary neurodegeneration...
April 17, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29665124/how-does-dementia-with-lewy-bodies-start-prodromal-cognitive-changes-in-rem-sleep-behavior-disorder
#7
Daphné Génier Marchand, Ronald B Postuma, Frédérique Escudier, Jessie De Roy, Amélie Pelletier, Jacques Montplaisir, Jean-François Gagnon
Objective We describe the progression of cognitive decline and identify the predictive values of cognitive tests in three groups of REM sleep behavior disorder (RBD) patients classified at their last follow-up as having Parkinson's disease (PD), dementia with Lewy bodies (DLB), or still-idiopathic. Methods Patients (n=109) underwent polysomnographic, neurological, and neuropsychological assessments. We used linear mixed-model analyses to compare the progression of cognitive test performance between the three groups over a three-year prodromal period, and performed linear regressions for a six-year prodromal period...
April 17, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29665116/atrophy-and-microglial-distribution-in-primary-progressive-aphasia-with-tdp-43
#8
Garam Kim, Kabriya Bolbolan, Tamar Gefen, Sandra Weintraub, Eileen H Bigio, Emily Rogalski, Marek-Marsel Mesulam, Changiz Geula
OBJECTIVE: To quantitatively determine the density and distribution of activated microglia across cortical regions and hemispheres in the brains of primary progressive aphasia (PPA) participants with pathologic diagnoses of FTLD-TDP, and to examine the relationships between microglial densities, patterns of focal atrophy, TDP-43 inclusions, and clinical phenotype. METHODS: Activated microglia and TDP-43 inclusions were visualized in whole-hemisphere brain sections using immunohistochemical methods from 5 participants with PPA-TDP...
April 17, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29665094/newborn-screening-a-disease-changing-intervention-for-glutaric-aciduria-type-1
#9
Nikolas Boy, Katharina Mengler, Eva Thimm, Katharina A Schiergens, Thorsten Marquardt, Natalie Weinhold, Iris Marquardt, Anibh M Das, Peter Freisinger, Sarah C Grünert, Judith Vossbeck, Robert Steinfeld, Matthias R Baumgartner, Skadi Beblo, Andrea Dieckmann, Andrea Näke, Martin Lindner, Jana Heringer, Georg F Hoffmann, Chris Mühlhausen, Esther M Maier, Regina Ensenauer, Sven F Garbade, Stefan Kölker
OBJECTIVE: Untreated individuals with glutaric aciduria type 1 (GA1) commonly present with a complex, predominantly dystonic movement disorder (MD) following acute or insidious onset striatal damage. Implementation of GA1 into newborn screening (NBS) programmes has improved the short-term outcome. It remains unclear, however, whether NBS changes the long-term outcome and which variables are predictive. METHODS: This prospective, observational, multi-centre study includes 87 patients identified by NBS, four patients missed by NBS and three women with GA1 identified by positive NBS results of their unaffected children...
April 17, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29665066/serotonin-beta-amyloid-and-cognition-in-parkinson-disease
#10
Vikas Kotagal, Cathie Spino, Nicolaas I Bohnen, Robert A Koeppe, Roger L Albin
OBJECTIVE: Serotoninergic neurotransmission may modulate beta-amyloid peptide (Aβ) metabolism through up-regulation of alpha-secretase. Early Parkinson disease (PD) shows variable serotoninergic denervation, which may impact Aβ deposition. METHODS: We conducted three analyses to explore associations between serotoninergic neurotransmission and cerebral Aβ burden in PD. The first was a cross-sectional imaging study of PD subjects (n=23) using the serotoninergic transporter positron emission tomography (PET) ligand [11 C]DASB and amyloid PET Pittsburgh compound B ([11 C]PiB)...
April 17, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29665046/intrathecal-igm-production-a-promising-high-risk-marker-in-cis-patients
#11
André Huss, Ahmed Abdelhak, Steffen Halbgebauer, Benjamin Mayer, Makbule Senel, Markus Otto, Hayrettin Tumani
Markers predicting the course of patients with clinically isolated syndrome (CIS) towards multiple sclerosis (MS) are urgently needed. We evaluated the predictive values of an intrathecal IgG and IgM production with different methods towards conversion to definite MS according to revised McDonald 2010 criteria in a cohort of 126 CIS patients. An intrathecal IgM production showed the highest likelihood ratio for the conversion of CIS patients to definite MS of 6.3, whereas it was 1.4 for oligoclonal IgG bands...
April 17, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29659054/tuning-in-c-nociceptors-to-reveal-mechanisms-in-chronic-neuropathic-pain
#12
Robin Jonas, Barbara Namer, Lenka Stockinger, Kim Chisholm, Mark Schnakenberg, Gunther Landmann, Mateusz Kucharczyk, Christoph Konrad, Roland Schmidt, Richard Carr, Stephen McMahon, Martin Schmelz, Roman Rukwied
OBJECTIVE: Develop and validate a low-intensity sinusoidal electrical stimulation paradigm to preferentially activate C-fibers in human skin. METHODS: Sinusoidal transcutaneous stimulation (4 Hz) was assessed psychophysically in healthy volunteers (n=14) and neuropathic pain patients (n=9). Pursuing laser Doppler imaging and single nociceptor recordings in vivo in humans (microneurography) and pigs confirmed the activation of "silent" C-nociceptors. Synchronized C-fiber compound action potentials were evoked in isolated human nerve fascicles in vitro...
April 16, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29659050/continuous-electroencephalography-predicts-delayed-cerebral-ischemia-after-subarachnoid-hemorrhage-a-prospective-study-of-diagnostic-accuracy
#13
Eric S Rosenthal, Siddharth Biswal, Sahar F Zafar, Kathryn L O'Connor, Sophia Bechek, Apeksha V Shenoy, Emily J Boyle, Mouhsin M Shafi, Emily J Gilmore, Brandon P Foreman, Nicolas Gaspard, Thabele M Leslie-Mazwi, Jonathan Rosand, Daniel B Hoch, Cenk Ayata, Sydney S Cash, Andrew J Cole, Aman B Patel, M Brandon Westover
OBJECTIVE: Delayed cerebral ischemia (DCI) is a common, disabling complication of subarachnoid hemorrhage (SAH). Preventing DCI is a key focus of neurocritical care, but interventions carry risk and cannot be applied indiscriminately. While retrospective studies have identified continuous EEG (cEEG) measures associated with DCI, no study has characterized the accuracy of cEEG with sufficient rigor to justify using it to triage patients to interventions or clinical trials. We therefore prospectively assessed the accuracy of cEEG for predicting DCI, following the Standards for Reporting Diagnostic Accuracy Studies...
April 16, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29637605/epidemiology-of-autoimmune-versus-infectious-encephalitis
#14
LETTER
Alberto Vogrig, Francesco Brigo, Mariarosaria Valente, Gian Luigi Gigli
No abstract text is available yet for this article.
April 10, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29637601/bp-and-risk-of-incident-ad-dementia-by-antihypertensive-and-apoe-%C3%AE%C2%B54-allele
#15
Kumar B Rajan, Lisa L Barnes, Robert S Wilson, Jennifer Weuve, Elizabeth A McAninch, Denis A Evans
OBJECTIVE: To examine the association of blood pressure (BP) with incident Alzheimer's disease (AD) dementia. METHODS: This work is based on a longitudinal, cohort study of 18 years, the Chicago Health and Aging Project (CHAP) performed in 2,137 participants (55% African American [AA]) with systolic BP measured about 8.1 years before incident AD dementia. RESULTS: The association of BP with risk of AD dementia was U-shaped, with the lowest risks of AD dementia near the center of the SBP and DBP distributions, and modestly elevated risk at lower BPs, and greater risk at higher BPs...
April 10, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29637594/reply-to-epidemiology-of-autoimmune-versus-infectious-encephalitis
#16
LETTER
Divyanshu Dubey, Sean J Pittock, Michel Toledano, Eoin P Flanagan
No abstract text is available yet for this article.
April 10, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29633334/ischemic-stroke-in-cancer-patients-a-review-of-an-underappreciated-pathology
#17
REVIEW
Babak B Navi, Costantino Iadecola
Currently one-in-ten patients with ischemic stroke have comorbid cancer and this frequency is expected to increase with continued advances in cancer therapeutics prolonging median survival. Well known for its association with venous thrombosis, cancer has recently emerged as a significant risk factor for arterial thromboembolism including stroke, however, the underlying mechanisms are uncertain. In addition, the optimal strategies to prevent and acutely treat stroke in cancer patients is yet to be established...
April 6, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29630738/the-epilepsy-phenotypic-spectrum-associated-with-a-recurrent-cux2-variant
#18
Nicolas Chatron, Rikke S Møller, Neena L Champaigne, Amy L Schneider, Alma Kuechler, Audrey Labalme, Thomas Simonet, Lauren Baggett, Claire Bardel, Erik-Jan Kamsteeg, Rolph Pfundt, Corrado Romano, Johan Aronsson, Antonino Alberti, Mirella Vinci, Maria J Miranda, Amy Lacroix, Dragan Marjanovic, Vincent des Portes, Patrick Edery, Dagmar Wieczorek, Elena Gardella, Ingrid E Scheffer, Heather Mefford, Damien Sanlaville, Gemma L Carvill, Gaetan Lesca
OBJECTIVE: Cut homeodomain transcription factor CUX2 plays an important role in dendrite branching, spine development, and synapse formation in layer II-III neurons of the cerebral cortex. We identify a recurrent de novo CUX2 p.Glu590Lys as a novel genetic cause for developmental and epileptic encephalopathy (DEE). METHODS: The de novo p.Glu590Lys variant was identified by whole-exome sequencing (n=5) or targeted gene panel (n=4). We performed electroclinical and imaging phenotyping on all patients...
April 6, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29604233/permeability-of-the-blood-brain-barrier-predicts-no-evidence-of-disease-activity-at-two-years-after-natalizumab-or-fingolimod-treatment-in-relapsing-remitting-multiple-sclerosis
#19
Stig P Cramer, Helle J Simonsen, Aravinthan Varatharaj, Ian Galea, Jette L Frederiksen, Henrik B W Larsson
OBJECTIVE: To investigate if blood-brain barrier (BBB) permeability, as measured by dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI), can provide early detection of sub-optimal treatment response in relapsing-remitting multiple sclerosis (RRMS). METHODS: 35 RRMS patients starting on fingolimod or natalizumab, drugs with a common effect of decreasing lymphocyte influx into the CNS, were scanned with DCE-MRI at 3T prior to treatment and at three and six-months post-treatment...
March 31, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29604226/stem-cell-modeling-of-mitochondrial-parkinsonism-reveals-key-functions-of-opa1
#20
Mindaugas Jonikas, Martin Madill, Alexandre Mathy, Theresa Zekoll, Christos E Zois, Simon Wigfield, Marzena Kurzawa-Akanbi, Cathy Browne, David Sims, Patrick F Chinnery, Sally A Cowley, George K Tofaris
OBJECTIVE: Defective mitochondrial function due to OPA1 mutations causes primarily optic atrophy and less commonly neurodegenerative syndromes. The pathomechanism by which OPA1 mutations trigger diffuse loss of neurons in some but not all patients is unknown. Here we used a tractable iPSC-based model to capture the biology of OPA1 haploinsufficiency in cases presenting with classic eye disease versus syndromic parkinsonism. METHODS: iPSC were generated from two patients with OPA1 haploinsufficiency and two controls and differentiated into dopaminergic neurons...
March 31, 2018: Annals of Neurology
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