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Annals of Neurology

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https://www.readbyqxmd.com/read/28437862/lewis-p-rowland-md-1925-2017
#1
Timothy A Pedley, Richard Mayeux
No abstract text is available yet for this article.
April 24, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28437859/multiple-sclerosis-broke-my-heart
#2
Géraldine Androdias, Emilien Bernard, Damien Biotti, Nicolas Collongues, Françoise Durand-Dubief, Julie Pique, Ingrid Sanchez, Clément Delmas, Jacques Ninet, Romain Marignier, Sandra Vukusic
We report 5 cases of acute heart failure (AHF) related to multiple sclerosis (MS) relapses. AHF was inaugural in 3 patients, always preceded or accompanied by signs of brainstem dysfunction; it was severe, requiring intensive care management. Echocardiography showed left ventricular hypokinesis. No other cause of AHF has been found. All patients showed a new medullary lesion on brain MRI. All had rapid and complete recovery of ventricular function after intravenous corticosteroids. We concluded to a takotsubo phenomenon...
April 24, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28437840/blood-biomarkers-of-carbohydrate-lipid-and-apolipoprotein-metabolisms-and-risk-of-amyotrophic-lateral-sclerosis-a-more-than-20-year-follow-up-of-the-swedish-amoris-cohort
#3
Daniela Mariosa, Niklas Hammar, Håkan Malmström, Caroline Ingre, Ingmar Jungner, Weimin Ye, Fang Fang, Göran Walldius
Objective To assess the associations of blood biomarkers of carbohydrate, lipid and apolipoprotein metabolisms with the future risk of ALS. Methods In the Apolipoprotein-related MOrtality RISk (AMORIS) study, we enrolled 636,132 men and women during 1985-1996 in Stockholm, Sweden with measurements of serum glucose, total cholesterol, triglycerides, apolipoprotein B (apoB), and apolipoprotein A-I (apoA-I). Serum LDL-C and HDL-C were either directly measured or calculated from total cholesterol, triglycerides and apoA-I...
April 24, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28411393/global-exosome-transcriptome-profiling-reveals-biomarkers-for-multiple-sclerosis
#4
Igor Selmaj, Maria Cichalewska, Magdalena Namiecinska, Grazyna Galazka, Wojciech Horzelski, Krzysztof W Selmaj, Marcin P Mycko
OBJECTIVE: Accumulating evidence supports a role for exosomes in immune regulation. In this study, we investigated the total circulating exosome transcriptome in relapsing-remitting multiple sclerosis patients (RRMS) and healthy controls (HC). METHODS: Next generation sequencing (NGS) was used to define the global RNA profile of serum exosomes in 19 RRMS patients (9 in relapse, 10 in remission) and 10 HC. We analyzed 5 million reads and over 50,000 transcripts per sample, including a detailed analysis of microRNA (miRNA) differentially expressed in RRMS...
April 15, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28395123/focused-ultrasound-as-a-novel-strategy-for-alzheimer-s-disease-therapeutics
#5
Ying Meng, Matthew Volpini, Sandra Black, Andres M Lozano, Kullervo Hynynen, Nir Lipsman
Despite decades of advances in the pathology, genetics and imaging of Alzheimer's disease (AD), there remain no effective treatments that significantly alter its natural history. Several late phase clinical trials, focused largely on amyloid beta metabolism and clearance, have unfortunately demonstrated no significant benefit in early AD patients. Recent work investigating blood-brain barrier opening using focused ultrasound in transgenic animal models has shown that repeated ultrasound administration coupled with microbubble-containing contrast can reduce plaque burden and reverse memory deficits...
April 10, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28393430/a-mutation-in-the-tubb4a-gene-leads-to-microtubule-accumulation-with-hypomyelination-and-demyelination
#6
Ian D Duncan, Marianna Bugiani, Abigail B Radcliff, John J Moran, Camila Lopez-Anido, Phu Duong, Benjamin K August, Nicole I Wolf, Marjo S van der Knaap, John Svaren
OBJECTIVE: Our goal was to define the genetic cause of the profound hypomyelination in the taiep rat model and determine its relevance to human white matter disease. METHODS: Based on previous localization of the taiep mutation to rat chromosome 9, we tested if the mutation resided within the Tubb4a (β-tubulin 4A) gene, since mutations in the TUBB4A gene have been described in patients with CNS hypomyelination. To determine whether accumulation of microtubules led to progressive demyelination we analyzed the spinal cord and optic nerves of 2 year old rats by light and electron microscopy...
April 10, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28393423/are-midsagittal-tissue-bridges-predictive-of-outcome-after-cervical-spinal-cord-injury
#7
Eveline Huber, Patrice Lachappelle, Reto Sutter, Armin Curt, Patrick Freund
T2-weighted scans provided data on the extent and dynamics of neuronal tissue damage and midsagittal tissue bridges at the epicenter of traumatic cervical spinal cord lesions in 24 subacute tetraplegic patients. At one month post-injury, smaller lesion area and midsagittal tissue bridges identified those patients with lower extremity evoked potentials and better clinical recovery. Wider midsagittal tissue bridges and smaller lesions at one month post-injury were associated with neurological and functional recovery at 1 year follow-up...
April 10, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28380698/myoclonus-epilepsy-and-ataxia-due-to-kcnc1-mutation-analysis-of-20-cases-and-k-channel-properties
#8
Karen L Oliver, Silvana Franceschetti, Carol J Milligan, Mikko Muona, Simone A Mandelstam, Laura Canafoglia, Anna M Boguszewska-Chachulska, Amos Korczyn, Francesca Bisulli, Carlo Di Bonaventura, Francesca Ragona, Roberto Michelucci, Bruria Ben-Zeev, Rachel Straussberg, Ferruccio Panzica, João Massano, Daniel Friedman, Arielle Crespel, Bernt A Engelsen, Frederick Andermann, Eva Andermann, Krystyna Spodar, Anetta Lasek-Bal, Patrizia Riguzzi, Elena Pasini, Paolo Tinuper, Laura Licchetta, Elena Gardella, Matthias Lindenau, Annette Wulf, Rikke S Møller, Felix Benninger, Zaid Afawi, Guido Rubboli, Christopher A Reid, Snezana Maljevic, Holger Lerche, Anna-Elina Lehesjoki, Steven Petrou, Samuel F Berkovic
OBJECTIVE: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium (K(+) ) channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. METHODS: We analysed clinical, electroclinical and neuroimaging data for twenty patients with MEAK due to recurrent KCNC1 p.R320H mutation. In vitro electrophysiological studies were conducted using whole cell patch clamp to explore biophysical properties of wild-type and mutant KV 3...
April 5, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28380672/randomized-clinical-trial-of-deep-brain-stimulation-for-post-stroke-pain
#9
Scott F Lempka, Donald A Malone, Bo Hu, Kenneth B Baker, Alexandria Wyant, John Ozinga, Ela B Plow, Mayur Pandya, Cynthia S Kubu, Paul J Ford, Andre G Machado
OBJECTIVE: The experience with deep brain stimulation (DBS) for pain is largely based on uncontrolled studies targeting the somatosensory pathways, with mixed results. We hypothesized that targeting limbic neural pathways would modulate the affective sphere of pain and alleviate suffering. METHODS: We conducted a prospective, double-blinded, randomized, placebo-controlled, crossover study of DBS targeting the ventral striatum/anterior limb of the internal capsule (VS/ALIC) in 10 patients with post-stroke pain syndrome...
April 5, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28380659/tailoring-epilepsy-surgery-with-fast-ripples-in-the-intra-operative-electrocorticogram
#10
M A van 't Klooster, N E C van Klink, W J E M Zweiphenning, F S S Leijten, R Zelmann, C H Ferrier, P C van Rijen, W M Otte, K P J Braun, G J M Huiskamp, M Zijlmans
OBJECTIVE: Intra-operative electrocorticography (ECoG) can be used to delineate the resection area in epilepsy surgery. High frequency oscillations (HFOs, 80-500Hz) seem better biomarkers for epileptogenic tissue than spikes. We studied how HFOs and spikes in combined pre- and post-resection ECoG predict surgical outcome in different tailoring approaches. METHODS: We, retrospectively, marked HFOs, divided into fast ripples (FRs, 250-500Hz) and ripples (80-250Hz), and spikes in pre- and post-resection ECoG sampled at 2048 Hz in people with refractory focal epilepsy...
April 5, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28318059/low-normal-csf-a%C3%AE-42-levels-predict-clinical-progression-in-non-demented-subjects
#11
Betty M Tijms, Daniela Bertens, Rosalinde E Slot, Alida A Gouw, Charlotte E Teunissen, Philip Scheltens, Wiesje M van der Flier, Pieter Jelle Visser
We studied whether continuous lower normal cerebrospinal fluid (CSF) amyloid β 1-42 (≥640 pg/ml) levels related with rate of clinical progression in a sample of 393 non-demented memory clinic patients. Lower normal levels were associated with faster clinical progression and this depended on baseline cognitive status (subjective cognitive decline: HR = 0.59, p <.05; mild cognitive impairment: HR=0.12, p <.001), indicating that normal CSF amyloid levels do not exclude incident Alzheimer's disease. These findings suggest that research on preclinical markers for Alzheimer's disease should take the continuum of CSF amyloid β 1-42 levels within the normal range into account...
March 20, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28318044/pathomechanisms-of-anti-cytosolic-5-nucleotidase-1a-autoantibodies-in-sporadic-inclusion-body-myositis
#12
Nozomu Tawara, Satoshi Yamashita, Xiao Zhang, Mai Korogi, Ziwei Zhang, Tsukasa Doki, Yoshimasa Matsuo, Shunya Nakane, Yasushi Maeda, Kazuma Sugie, Naoki Suzuki, Masashi Aoki, Yukio Ando
OBJECTIVE: Sporadic inclusion body myositis (sIBM), an intractable progressive muscle disease, frequently occurs in older persons. sIBM pathogenesis may involve protein degradation dysfunction and immune abnormalities. Autoantibodies recognizing cytosolic 5'-nucleotidase 1A (cN1A) were found in plasma and serum from sIBM patients. However, whether anti-cN1A autoantibodies play a pathogenic role in sIBM is controversial. This study investigated the pathogenic properties of anti-cN1A autoantibodies in sIBM pathogenesis...
March 20, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28318037/deoxycytidine-and-deoxythymidine-treatment-for-thymidine-kinase-2-deficiency
#13
Carlos Lopez-Gomez, Rebecca J Levy, Maria J Sanchez-Quintero, Marti Juanola-Falgarona, Emanuele Barca, Beatriz Garcia-Diaz, Saba Tadesse, Caterina Garone, Michio Hirano
OBJECTIVE: Thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial pyrimidine salvage pathway, is essential for mitochondrial DNA (mtDNA) maintenance. Mutations in the nuclear gene TK2 cause TK2 deficiency, which manifests predominantly in children as myopathy with mtDNA depletion. Molecular bypass therapy with the TK2 products, dCMP and dTMP, prolongs the lifespan of Tk2-deficient (Tk2(-/-) ) mice by 2-3 fold. Because we observed rapid catabolism of the deoxynucleoside monophosphates to deoxythymidine (dT) and deoxycytidine (dC), we hypothesized that: 1) deoxynucleosides might be the major active agents and 2) inhibition of deoxycytidine deamination might enhance dTMP+dCMP therapy...
March 20, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28253549/the-immune-response-of-the-human-brain-to-abdominal-surgery
#14
Anton Forsberg, Simon Cervenka, Malin Jonsson Fagerlund, Lars S Rasmussen, Henrik Zetterberg, Helena Erlandsson Harris, Pernilla Stridh, Eva Christensson, Anna Granström, Anna Schening, Karin Dymmel, Nina Knave, Niccolò Terrando, Mervyn Maze, Jacqueline Borg, Andrea Varrone, Christer Halldin, Kaj Blennow, Lars Farde, Lars I Eriksson
OBJECTIVE: Surgery launches a systemic inflammatory reaction that reaches the brain and associates with immune activation and cognitive decline. Although preclinical studies have in part described this systemic-to-brain signaling pathway, we lack information on how these changes appear in humans. This study examines the short- and long-term impact of abdominal surgery on the human brain immune system by positron emission tomography (PET) in relation to blood immune reactivity, plasma inflammatory biomarkers, and cognitive function...
April 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28253547/wounded-brain-ailing-heart-central-autonomic-network-disruption-in-acute-stroke
#15
Peter Sörös, Vladimir Hachinski
No abstract text is available yet for this article.
March 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28253546/fluorodeoxyglucose-metabolism-associated-with-tau-amyloid-interaction-predicts-memory-decline
#16
Bernard J Hanseeuw, Rebecca A Betensky, Aaron P Schultz, Kathryn V Papp, Elizabeth C Mormino, Jorge Sepulcre, John S Bark, Danielle M Cosio, Molly LaPoint, Jasmeer P Chhatwal, Dorene M Rentz, Reisa A Sperling, Keith A Johnson
OBJECTIVE: The aim of this article was to evaluate in normal older adults and preclinical Alzheimer's disease (AD) the impact of amyloid and regional tauopathy on cerebral glucose metabolism and subsequent memory decline. METHODS: We acquired positron emission tomography using F18 flortaucipir (tau), C11 Pittsburgh compound B (amyloid), and F18 fluorodeoxyglucose in 90 clinically normal elderly of the Harvard Aging Brain Study. RESULTS: Posterior cingulate metabolism decreased when both amyloid and neocortical tau were high and predicted subsequent memory decline in a larger sample of normal elderly...
March 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28253543/computed-tomography-based-acute-stroke-lesion-timing-and-patient-stratification
#17
LETTER
Risto A Kauppinen, Michael J Knight
No abstract text is available yet for this article.
March 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28253542/reply
#18
André Kemmling, Jens Minnerup
No abstract text is available yet for this article.
March 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28253535/homozygous-mutations-in-vamp1-cause-a-presynaptic-congenital-myasthenic-syndrome
#19
Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, Markus Storbeck, Yun Liu, Stephanie Efthymiou, Andreea Manole, Sarah Wiethoff, Qiaohong Ye, Anand Saggar, Kenneth McElreavey, Shyam S Krishnakumar, Matthew Pitt, Oscar D Bello, James E Rothman, Lina Basel-Vanagaite, Monika Weisz Hubshman, Sharon Aharoni, Adnan Y Manzur, Brunhilde Wirth, Henry Houlden
We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC in a Kuwaiti family and c.146G>C in an Israeli family. VAMP1 is crucial for vesicle fusion at presynaptic neuromuscular junction (NMJ). Electrodiagnostic examination showed severely low compound muscle action potentials and presynaptic impairment. We assessed the effect of the nonsense mutation on mRNA levels and evaluated the NMJ transmission in VAMP1(lew/lew) mice, observing neurophysiological features of presynaptic impairment, similar to the patients...
March 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28241384/quantitative-muscle-ultrasound-detects-disease-progression-in-duchenne-muscular-dystrophy
#20
Craig M Zaidman, Jim S Wu, Kush Kapur, Amy Pasternak, Lavanya Madabusi, Sung Yim, Adam Pacheck, Heather Szelag, Tim Harrington, Basil T Darras, Seward B Rutkove
OBJECTIVE: We assessed changes in quantitative muscle ultrasound data in boys with Duchenne muscular dystrophy (DMD) and healthy controls to determine if ultrasound can serve as a biomarker of disease progression. Two approaches were used: grey scale level (GSL), measured from the ultrasound image, and quantitative backscatter analysis (QBA) measured directly from the received echoes. METHODS: GSL and QBA were obtained from six unilateral arm/leg muscles in 36 boys with DMD and 28 healthy boys (age 2-14 years) for up to 2 years...
February 27, 2017: Annals of Neurology
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