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Annals of Neurology

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https://www.readbyqxmd.com/read/28628946/structural-plasticity-of-the-ventral-stream-and-aphasia-recovery
#1
Emilie T McKinnon, Julius Fridriksson, G Russell Glenn, Jens H Jensen, Joseph A Helpern, Alexandra Basilakos, Christopher Rorden, Andy Y Shih, M Vittoria Spampinato, Leonardo Bonilha
Re-strengthening of the residual language network is likely crucial for speech recovery in post-stroke aphasia. Eight participants with chronic aphasia received intensive speech therapy for three weeks, with standardized naming tests and brain MRIs before and after therapy. Kurtosis-based diffusion tensor tractography was used to measure mean kurtosis (MK) along a segment of the inferior longitudinal fasciculus (ILF). Therapy related reduction in the number of semantic but not phonemic errors was associated with strengthening (renormalization) of ILF MK (r=-0...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28628941/a-novel-cause-of-chronic-viral-meningoencephalitis-cache-valley-virus
#2
Michael R Wilson, Dan Suan, Andrew Duggins, Ryan D Schubert, Lillian M Khan, Hannah A Sample, Kelsey C Zorn, Aline Rodrigues Hoffman, Anna Blick, Meena Shingde, Joseph L DeRisi
OBJECTIVE: Immunodeficient patients are particularly vulnerable to neuroinvasive infections that can be challenging to diagnose. Metagenomic next-generation sequencing can identify unusual or novel microbes and is therefore well suited for investigating the etiology of chronic meningoencephalitis in immunodeficient patients. METHODS: We present the case of a 34 year-old man with X-linked agammaglobulinemia from Australia suffering from three years of meningoencephalitis that defied an etiologic diagnosis despite extensive conventional testing, including a brain biopsy...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28628244/phosphorylated-neurofilament-heavy-chain-a-biomarker-of-survival-for-c9orf72-associated-amyotrophic-lateral-sclerosis
#3
Tania F Gendron, Lillian M Daughrity, Michael G Heckman, Nancy N Diehl, Joanne Wuu, Timothy M Miller, Pau Pastor, John Q Trojanowski, Murray Grossman, James D Berry, William T Hu, Antonia Ratti, Michael Benatar, Vincenzo Silani, Jonathan D Glass, Mary Kay Floeter, Andreas Jeromin, Kevin B Boylan, Leonard Petrucelli
As potential treatments for C9ORF72-associated amyotrophic lateral sclerosis (c9ALS) approach clinical trials, the identification of prognostic biomarkers for c9ALS becomes a priority. We show that levels of phosphorylated neurofilament heavy chain (pNFH) in cerebrospinal fluid (CSF) predict disease status and survival in c9ALS patients, and are largely stable over time. Moreover, c9ALS patients exhibit higher pNFH levels, more rapid disease progression, and shorter survival after disease onset than ALS patients without C9ORF72 expansions...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28628235/expanded-phenotypes-and-outcomes-among-256-lgi1-caspr2-igg-positive-patients
#4
Avi Gadoth, Sean J Pittock, Divyanshu Dubey, Andrew McKeon, Jeff W Britton, John E Schmeling, Aurelia Smith, Amy L Kotsenas, Robert E Watson, Daniel H Lachance, Eoin P Flanagan, Vanda A Lennon, Christopher J Klein
OBJECTIVE: To describe an expanded phenotypic spectrum and longitudinal outcome in 256 LGI1-IgG or CASPR2-IgG seropositive patients. METHODS: Patients were identified through service neural autoantibody evaluation. Ninety-five had longitudinal follow-up (7-456 months; median 35). RESULTS: Among 3,910 patients tested, 196 were LGI1-IgG-positive; 51 were CASPR2-IgG-positive and 9 were dual-positive. CSF-testing was less sensitive than serum-testing, detecting only 24/38 LGI1-IgG-positive (63%) and 5/6 CASPR2-IgG-positive (83%)...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28628231/gene-therapy-decreases-seizures-in-a-model-of-incontinentia-pigmenti
#5
Godwin K Dogbevia, Kathrin Töllner, Jakob Körbelin, Sonja Bröer, Dirk A Ridder, Hanna Grasshoff, Claudia Brandt, Jan Wenzel, Beate K Straub, Martin Trepel, Wolfgang Löscher, Markus Schwaninger
OBJECTIVE: Incontinentia pigmenti (IP) is a genetic disease leading to severe neurological symptoms, such as epileptic seizures, but no specific treatment is available. IP is caused by pathogenic variants that inactivate the Nemo gene. Replacing Nemo through gene therapy might provide therapeutic benefits. METHODS: In a mouse model of IP we administered a single intravenous dose of the AAV vector AAV-BR1-CAG-NEMO delivering the Nemo gene to the brain endothelium...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28598015/cutaneous-nerve-biomarkers-in-transthyretin-familial-amyloid-polyneuropathy
#6
Gigi J Ebenezer, Ying Liu, Daniel P Judge, Kelly Cunningham, Shaun Truelove, Noel D Carter, Blessan Sebastian, Kelly Byrnes, Michael Polydefkis
OBJECTIVE: To determine the utility of skin biopsies as a biomarker of disease severity in subjects with amyloid neuropathy. METHODS: Five groups of patients were studied: (1) transthyretin (TTR) familial amyloidotic polyneuropathy (FAP; n = 20), (2) TTR mutation carriers without peripheral neuropathy (TTR-noPN; n = 10), (3) healthy controls (n = 20), (4) diabetic neuropathy disease controls (n = 20), and (5) patients with light-chain (AL) amyloid (n = 2)...
June 9, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28586147/epileptic-networks-in-action-synchrony-between-distant-hemodynamic-responses
#7
Hui Ming Khoo, Nicolás von Ellenrieder, Natalja Zazubovits, François Dubeau, Jean Gotman
OBJECTIVE: Structural and functional imaging studies in focal epilepsy often reveal distributed regions of abnormality. These are interpreted as representing the existence of epileptic networks but the presence of actual neuronal interactions between these regions has not been demonstrated. We sought to determine if the distributed hemodynamic responses often seen in fMRI studies of scalp interictal epileptic discharges (IEDs) actually correspond to synchronized neuronal activities when examining the intracerebral EEG (iEEG) at distant nodes of the network...
June 6, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28586141/connectivity-predicts-deep-brain-stimulation-outcome-in-parkinson-s-disease
#8
Andreas Horn, Martin Reich, Johannes Vorwerk, Ningfei Li, Gregor Wenzel, Qianqian Fang, Tanja Schmitz-Hübsch, Robert Nickl, Andreas Kupsch, Jens Volkmann, Andrea A Kühn, Michael D Fox
OBJECTIVE: The benefit of deep brain stimulation (DBS) for Parkinson's disease (PD) may depend on connectivity between the stimulation site and other brain regions, but which regions and whether connectivity can predict outcome in patients remains unknown. Here, we identify the structural and functional connectivity profile of effective DBS to the subthalamic nucleus (STN) and test its ability to predict outcome in an independent cohort. METHODS: A training dataset of 51 PD patients with STN DBS was combined with publicly available human connectome data (diffusion tractography and resting state functional connectivity) to identify connections reliably associated with clinical improvement (motor score of Unified Parkinson's Disease Rating Scale)...
June 6, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28574152/serum-igf-i-levels-are-associated-with-improved-white-matter-recovery-after-tbi
#9
Claire Feeney, David J Sharp, Peter J Hellyer, Amy E Jolly, James H Cole, Gregory Scott, David Baxter, Sagar Jilka, Ewan Ross, Timothy E Ham, Peter O Jenkins, Lucia M Li, Nikos Gorgoraptis, Mark Midwinter, Anthony P Goldstone
OBJECTIVE: Traumatic brain injury (TBI) is a common disabling condition with limited treatment options. Diffusion tensor imaging (DTI) measures recovery of axonal injury in white matter (WM) tracts after TBI. Growth hormone deficiency (GHD) after TBI may impair axonal and neuropsychological recovery, and serum IGF-I may mediate this effect. We conducted a longitudinal study to determine the effects of baseline serum IGF-I concentrations on WM tract and neuropsychological recovery after TBI...
June 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28556498/sodium-intake-and-multiple-sclerosis-activity-and-progression-in-benefit
#10
Kathryn C Fitzgerald, Kassandra L Munger, Hans P Hartung, Mark S Freedman, Xavier Montalbán, Gilles Edan, Eva-Maria Wicklein, Ernst-Wilhelm Radue, Ludwig Kappos, Christoph Pohl, Alberto Ascherio
OBJECTIVE: To assess whether a high-salt diet, as measured by urinary sodium concentration, is associated with faster conversion from clinically isolated syndrome (CIS) to multiple sclerosis (MS) and MS activity and disability. METHODS: BENEFIT was a randomized clinical trial comparing early versus delayed interferon beta-1b treatment in 465 patients with a CIS. Each patient provided a median of 14 (IQR: 13 to 16) spot urine samples throughout the 5-year follow-up...
May 26, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28556411/the-genetic-landscape-of-familial-congenital-hydrocephalus
#11
Ranad Shaheen, Mohammed Adeeb Sebai, Nisha Patel, Nour Ewida, Wesam Kurdi, Ikhlass Altweijri, Sameera Sogaty, Elham Almardawi, Mohammed Zain Seidahmed, Abdulrahman Alnemri, Sateesh Madirevula, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Tarfa Al-Sheddi, Rana Alomar, Eman Alobeid, Bahauddin Sallout, Badi AlBaqawi, Wajeih AlAali, Nouf Ajaji, Harry Lesmana, Robert J Hopkin, Lucie Dupuis, Roberto Mendoza-Londono, Hadeel Al Rukban, Grace Yoon, Eissa Faqeih, Fowzan S Alkuraya
OBJECTIVE: Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only four genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, two X-linked (L1CAM and AP1S2) and two autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease...
May 26, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28556287/differential-neuronal-susceptibility-and-apoptosis-in-congenital-zikv-infection
#12
Cheng-Ying Ho, Heather M Ames, Ashley Tipton, Gilbert Vezina, Judy S Liu, Joseph Scafidi, Masaaki Torii, Fausto J Rodriguez, Adre du Plessis, Roberta L DeBiasi
To characterize the mechanism of ZIKV-associated microcephaly, we perform immunolabeling on brain tissue from a 20-week fetus with intrauterine ZIKV infection. While ZIKV demonstrated a wide range of neuronal and non-neuronal tropism, the infection rate was highest in intermediate progenitor cells and immature neurons. Apoptosis was observed in both infected and uninfected bystander cortical neurons, suggesting a role for paracrine factors in induction of neuronal apoptosis. Our results highlight differential neuronal susceptibility and neuronal apoptosis as potential mechanisms in the development of ZIKV-associated microcephaly, and may provide insights into the design and best timing of future therapy...
May 26, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28556259/phenobarbital-and-midazolam-increase-neonatal-seizure-associated-neuronal-injury
#13
Daniel Torolira, Lucie Suchomelova, Claude G Wasterlain, Jerome Niquet
Status Epilepticus is common in neonates and infants, and is associated with neuronal injury and adverse developmental outcomes. GABAergic drugs, the standard treatment for neonatal seizures, can have excitatory effects in the neonatal brain, which may worsen the seizures and their effects. Using a recently developed model of status epilepticus in P7 rat pups that results in widespread neuronal injury, we found that the GABAA agonists phenobarbital and midazolam significantly increased Status Epilepticus-associated neuronal injury in various brain regions...
May 26, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28556232/decreased-plasma-%C3%AE-amyloid-in-the-alzheimer-s-disease-app-a673t-variant-carriers
#14
Henna Martiskainen, Sanna-Kaisa Herukka, Alena Stančáková, Jussi Paananen, Hilkka Soininen, Johanna Kuusisto, Markku Laakso, Mikko Hiltunen
We investigated the association of Alzheimer's disease-related rare variants APP A673T and ABCA7 rs200538373-C with the levels of β-amyloid (Aβ) and parameters of metabolic and cardiovascular health in a population-based cohort of healthy middle-aged and elderly men. Carriers of protective APP A673T variant had on average 28% lower levels of Aβ40 and Aβ42 in plasma as compared to the controls and the carriers of ABCA7 rs200538373-C. This is the first report to show decreased Aβ levels in plasma in APP A673T carriers and thus provides evidence that lower Aβ levels throughout the life may be protective against Alzheimer's disease...
May 26, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28556183/a-simple-blood-test-expedites-the-diagnosis-of-glut1-deficiency-syndrome
#15
Domitille Gras, Christelle Cousin, Caroline Kappeler, Cheuk-Wing Fung, Stéphane Auvin, Nouha Essid, Brian Hy Chung, Lydie Da Costa, Elodie Hainque, Marie-Pierre Luton, Vincent Petit, Sandrine Vuillaumier-Barrot, Odile Boespflug-Tanguy, Emmanuel Roze, Fanny Mochel
GLUT1 deficiency syndrome (GLUT1-DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1-DS with predominant movement disorders, 18 patients with movement disorders due to other genetic defects and 346 healthy controls. We detected significantly reduced GLUT1 expression only on red blood cells from patients with GLUT1-DS (23 patients, 78%), including patients with inconclusive genetic analysis...
May 26, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28556092/reduced-glial-activity-after-surgery-a-sign-of-immunoparalysis-of-the-brain
#16
LETTER
Annemieke M Peters van Ton, Matthijs Kox, Peter Pickkers, Wilson F Abdo
No abstract text is available yet for this article.
May 26, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28544007/fletcher-h-mcdowell-md-1923-2017
#17
EDITORIAL
Jesse M Cedarbaum, Mindy Aisen, Bruce T Volpe
No abstract text is available yet for this article.
May 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28543735/the-repetition-of-behavioral-assessments-in-diagnosis-of-disorders-of-consciousness
#18
Sarah Wannez, Lizette Heine, Marie Thonnard, Olivia Gosseries, Steven Laureys
OBJECTIVE: To determine whether repeated examinations using the Coma Recovery Scale-Revised have an impact on diagnostic accuracy of patients with disorders of consciousness and to provide guidelines regarding the number of assessments required for obtaining a reliable diagnosis. METHODS: 123 adult patients with chronic disorders of consciousness were referred to our tertiary center. They were assessed at least 6 times with the Coma Recovery Scale-Revised within a 10-day period...
May 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28543731/neuroimaging-biomarkers-and-impaired-olfaction-in-cognitively-normal-individuals
#19
Maria Vassilaki, Teresa J Christianson, Michelle M Mielke, Yonas E Geda, Walter K Kremers, Mary M Machulda, David S Knopman, Ronald C Petersen, Val J Lowe, Clifford R Jack, Rosebud O Roberts
OBJECTIVE: There is a need for inexpensive noninvasive tests to identify older healthy persons at risk for Alzheimer disease (AD) for enrollment in AD prevention trials. Our objective was to examine whether abnormalities in neuroimaging measures of amyloid and neurodegeneration are correlated with odor identification (OI) in the population-based Mayo Clinic Study of Aging. METHODS: Cognitively normal (CN) participants had olfactory function assessed using the Brief Smell Identification Test (B-SIT), underwent magnetic resonance imaging (n = 829) to assess a composite AD signature cortical thickness and hippocampal volume (HVa), and underwent (11) C-Pittsburgh compound B (n = 306) and (18) fluorodeoxyglucose (n = 305) positron emission tomography scanning to assess amyloid accumulation and brain hypometabolism, respectively...
May 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28543679/the-missing-the-short-and-the-long-levodopa-responses-and-dopamine-actions
#20
Roger L Albin, Daniel K Leventhal
No abstract text is available yet for this article.
May 22, 2017: Annals of Neurology
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