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Annals of Clinical and Translational Neurology

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https://www.readbyqxmd.com/read/29046887/erratum-selected-missense-mutations-impair-frataxin-processing-in-friedreich-ataxia
#1
(no author information available yet)
[This corrects the article DOI: 10.1002/acn3.433.].
October 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29046886/reply-to-comment-extravirgin-olive-oil-ameliorates-cognition-and-neuropathology-of-the-3xtg-mice
#2
Elisabetta Lauretti, Luigi Iuliano, Domenico Praticò
No abstract text is available yet for this article.
October 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29046885/comment-on-extra-virgin-olive-oil-ameliorates-cognition-and-neuropathology-of-the-3xtg-mice-role-of-autophagy
#3
James R Roede
No abstract text is available yet for this article.
October 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29046884/selective-intrathecal-enrichment-of-g1m1-positive-b-cells-in-multiple-sclerosis
#4
Andreas Lossius, Alina Tomescu-Baciu, Trygve Holmøy, Christian A Vedeler, Egil Røsjø, Åslaug R Lorentzen, Ilaria Casetta, Frode Vartdal
Immunoglobulin gamma (IgG) heavy chain genes are associated with susceptibility to multiple sclerosis (MS) and IgG levels in the cerebrospinal fluid (CSF). However, how these variants are implicated in disease mechanisms remains unknown. Here, we show that proliferating plasmablasts expressing the G1m1 allotype of IgG1 are selectively enriched in CSF of G1m1/G1m3 heterozygous MS patients, whereas plasmablasts expressing either G1m1 or G1m3 are evenly distributed in blood. Moreover, there was a preferential intrathecal synthesis of oligoclonal IgG1 of the G1m1 allotype in heterozygous patients, whereas controls with Lyme neuroborreliosis displayed oligoclonal IgG1 of both allotypes...
October 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29046883/human-neural-stem-cell-transplantation-into-the-corpus-callosum-of-alzheimer-s-mice
#5
Lisa M McGinley, Osama N Kashlan, Kevin S Chen, Elizabeth S Bruno, John M Hayes, Carey Backus, Seth Feldman, Bader N Kashlan, Karl Johe, Eva L Feldman
The hippocampus has been the target of stem cell transplantations in preclinical studies focused on Alzheimer's disease, with results showing improvements in histological and behavioral outcomes. The corpus callosum is another structure that is affected early in Alzheimer's disease. Therefore, we hypothesize that this structure is a novel target for human neural stem cell transplantation in transgenic Alzheimer's disease mouse models. This study demonstrates the feasibility of targeting the corpus callosum and identifies an effective immunosuppression regimen for transplanted neural stem cell survival...
October 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29046882/biased-numerical-cognition-impairs-economic-decision-making-in-parkinson-s-disease
#6
Qadeer Arshad, Angela Bonsu, Rhannon Lobo, Anne-Sophie Fluri, Rahuman Sheriff, Peter Bain, Nicola Pavese, Adolfo M Bronstein
OBJECTIVE: Previous findings suggest a context-dependent bihemispheric allocation of numerical magnitude. Accordingly, we predicted that lateralized motor symptoms in Parkinson's disease (PD), which reflect hemispheric asymmetries, would induce systematic lateralized biases in numerical cognition and have a subsequent influence on decision-making. METHODS: In 20 PD patients and matched healthy controls we assessed numerical cognition using a number-pair bisection and random number generation task...
October 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29046881/nmnat3-is-protective-against-the-effects-of-neonatal-cerebral-hypoxia-ischemia
#7
Rafael Galindo, Marianne Banks Greenberg, Toshiyuki Araki, Yo Sasaki, Nehali Mehta, Jeffrey Milbrandt, David M Holtzman
OBJECTIVE: To determine whether the NAD+ biosynthetic protein, nicotinamide mononucleotide adenylyltransferase-3 (NMNAT3), is a neuroprotective inducible enzyme capable of decreasing cerebral injury after neonatal hypoxia-ischemia (H-I) and reducing glutamate receptor-mediated excitotoxic neurodegeneration of immature neurons. METHODS: Using NMNAT3-overexpressing mice we investigated whether increases in brain NMNAT3 reduced cerebral tissue loss following H-I. We then employed biochemical methods from injured neonatal brains to examine the inducibility of NMNAT3 and the mechanism of NMNAT3-dependent neuroprotection...
October 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29046880/improved-diagnosis-of-parkinson-s-disease-from-a-detailed-olfactory-phenotype
#8
Richard C Gerkin, Charles H Adler, Joseph G Hentz, Holly A Shill, Erika Driver-Dunckley, Shyamal H Mehta, Marwan N Sabbagh, John N Caviness, Brittany N Dugger, Geidy Serrano, Christine Belden, Brian H Smith, Lucia Sue, Kathryn J Davis, Edward Zamrini, Thomas G Beach
OBJECTIVE: To assess the predictive potential of the complete response pattern from the University of Pennsylvania Smell Identification Test for the diagnosis of Parkinson's disease. METHODS: We analyzed a large dataset from the Arizona Study of Aging and Neurodegenerative Disorders, a longitudinal clinicopathological study of health and disease in elderly volunteers. Using the complete pattern of responses to all 40 items in each subject's test, we built predictive models of neurodegenerative disease, and we validated these models out of sample by comparing model predictions against postmortem pathological diagnosis...
October 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29046879/impaired-synaptic-function-is-linked-to-cognition-in-parkinson-s-disease
#9
Per Selnes, Ane Løvli Stav, Krisztina K Johansen, Atle Bjørnerud, Christopher Coello, Eirik Auning, Lisa Kalheim, Ina Selseth Almdahl, Erik Hessen, Henrik Zetterberg, Kaj Blennow, Dag Aarsland, Tormod Fladby
OBJECTIVE: Cognitive impairment is frequent in Parkinson's disease, but the underlying mechanisms are insufficiently understood. Because cortical metabolism is reduced in Parkinson's disease and closely associated with cognitive impairment, and CSF amyloid-β species are reduced and correlate with neuropsychological performance in Parkinson's disease, and amyloid-β release to interstitial fluid may be related to synaptic activity; we hypothesize that synapse dysfunction links cortical hypometabolism, reduced CSF amyloid-β, and presynaptic deposits of α-synuclein...
October 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28904990/the-multiple-faces-of-spinocerebellar-ataxia-type-2
#10
REVIEW
Antonella Antenora, Carlo Rinaldi, Alessandro Roca, Chiara Pane, Maria Lieto, Francesco Saccà, Silvio Peluso, Giuseppe De Michele, Alessandro Filla
Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease is caused by a CAG expansion in ATXN2 gene, leading to abnormal accumulation of the mutant protein, ataxin-2, in intracellular inclusions. The clinical picture is mainly dominated by cerebellar ataxia, although a number of other neurological signs have been described, ranging from parkinsonism to motor neuron involvement, making the diagnosis frequently challenging for neurologists, particularly when information about the family history is not available...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28904989/antibodies-to-trim46-are-associated-with-paraneoplastic-neurological-syndromes
#11
Marleen H van Coevorden-Hameete, Sam F B van Beuningen, Matthieu Perrenoud, Lena M Will, Esther Hulsenboom, Jean-Francois Demonet, Lidia Sabater, Johan M Kros, Jan J G M Verschuuren, Maarten J Titulaer, Esther de Graaff, Peter A E Sillevis Smitt, Casper C Hoogenraad
Paraneoplastic neurological syndromes (PNS) are often characterized by the presence of antineuronal antibodies in patient serum or cerebrospinal fluid. The detection of antineuronal antibodies has proven to be a useful tool in PNS diagnosis and the search for an underlying tumor. Here, we describe three patients with autoantibodies to several epitopes of the axon initial segment protein tripartite motif 46 (TRIM46). We show that anti-TRIM46 antibodies are easy to detect in routine immunohistochemistry screening and can be confirmed by western blotting and cell-based assay...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28904988/neurite-dispersion-a-new-marker-of-multiple-sclerosis-spinal-cord-pathology
#12
Francesco Grussu, Torben Schneider, Carmen Tur, Richard L Yates, Mohamed Tachrount, Andrada Ianuş, Marios C Yiannakas, Jia Newcombe, Hui Zhang, Daniel C Alexander, Gabriele C DeLuca, Claudia A M Gandini Wheeler-Kingshott
OBJECTIVE: Conventional magnetic resonance imaging (MRI) of the multiple sclerosis spinal cord is limited by low specificity regarding the underlying pathological processes, and new MRI metrics assessing microscopic damage are required. We aim to show for the first time that neurite orientation dispersion (i.e., variability in axon/dendrite orientations) is a new biomarker that uncovers previously undetected layers of complexity of multiple sclerosis spinal cord pathology. Also, we validate against histology a clinically viable MRI technique for dispersion measurement (neurite orientation dispersion and density imaging, NODDI), to demonstrate the strong potential of the new marker...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28904987/respiratory-magnetic-resonance-imaging-biomarkers-in-duchenne-muscular-dystrophy
#13
Ami Mankodi, William Kovacs, Gina Norato, Nathan Hsieh, W Patricia Bandettini, Courtney A Bishop, Hirity Shimellis, Rexford D Newbould, Eunhee Kim, Kenneth H Fischbeck, Andrew E Arai, Jianhua Yao
OBJECTIVE: To examine the diaphragm and chest wall dynamics with cine breathing magnetic resonance imaging (MRI) in ambulatory boys with Duchenne muscular dystrophy (DMD) without respiratory symptoms and controls. METHODS: In 11 DMD boys and 15 controls, cine MRI of maximal breathing was recorded for 10 sec. The lung segmentations were done by an automated pipeline based on a Holistically-Nested Network model (HNN method). Lung areas, diaphragm, and chest wall motion were measured throughout the breathing cycle...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28904986/sex-matters-repetitive-mild-traumatic-brain-injury-in-adolescent-rats
#14
David K Wright, Terence J O'Brien, Sandy R Shultz, Richelle Mychasiuk
OBJECTIVE: Whether sex differences contribute to the heterogeneity of mild traumatic brain injury (mTBI) and repeated mTBI (RmTBI) outcomes in adolescents is unknown. Therefore, this study examined changes in, and differences between, male and female rats following single mTBI and RmTBI. METHODS: Rats were given a single mTBI, RmTBI (i.e., 3x), or sham injuries. Injuries were administered using a lateral impact model that mimics forces common in human mTBI. After the final injury, rats underwent extensive behavioral testing to examine cognition, motor function, and anxiety- and depressive-like behavior...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28904985/cholinergic-activity-and-levodopa-induced-dyskinesia-a-multitracer-molecular-imaging-study
#15
Joachim Brumberg, Sebastian Küsters, Ehab Al-Momani, Giorgio Marotta, Kelly P Cosgrove, Christopher H van Dyck, Ken Herrmann, György A Homola, Gianni Pezzoli, Andreas K Buck, Jens Volkmann, Samuel Samnick, Ioannis U Isaias
OBJECTIVE: To investigate the association between levodopa-induced dyskinesias and striatal cholinergic activity in patients with Parkinson's disease. METHODS: This study included 13 Parkinson's disease patients with peak-of-dose levodopa-induced dyskinesias, 12 nondyskinetic patients, and 12 healthy controls. Participants underwent 5-[(123)I]iodo-3-[2(S)-2-azetidinylmethoxy]pyridine single-photon emission computed tomography, a marker of nicotinic acetylcholine receptors, [(123)I]N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl)nortropane single-photon emission computed tomography, to measure dopamine reuptake transporter density and 2-[(18)F]fluoro-2-deoxyglucose positron emission tomography to assess regional cerebral metabolic activity...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28904984/impact-of-diabetes-in-the-friedreich-ataxia-clinical-outcome-measures-study
#16
Ashley McCormick, Jennifer Farmer, Susan Perlman, Martin Delatycki, George Wilmot, Katherine Matthews, Grace Yoon, Chad Hoyle, Sub H Subramony, Theresa Zesiewicz, David R Lynch, Shana E McCormack
OBJECTIVE: Friedreich ataxia (FA) is a progressive neuromuscular disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene. FA is associated with increased risk of diabetes mellitus (DM). This study assessed the age-specific prevalence of FA-associated DM and its impact on neurologic outcomes. RESEARCH DESIGN AND METHODS: Participants were 811 individuals with FA from 12 international sites in a prospective natural history study (FA Clinical Outcome Measures Study, FACOMS)...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28904983/structure-function-relationships-in-the-visual-system-in-multiple-sclerosis-an-meg-and-oct-study
#17
Prejaas Tewarie, Lisanne J Balk, Arjan Hillebrand, Martijn D Steenwijk, Bernard M J Uitdehaag, Cornelis J Stam, Axel Petzold
BACKGROUND: We conducted a multi-modal optical coherence tomography (OCT) and magnetoencephalography (MEG) study to test whether there is a relationship between retinal layer integrity and electrophysiological activity and connectivity (FC) in the visual network influenced by optic neuritis (ON) in patients with multiple sclerosis (MS). METHODS: One hundred and two MS patients were included in this MEG/OCT study. Retinal OCT data were collected from the optic discs, macular region, and segmented...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28812051/comment-on-ph20-is-not-expressed-in-murine-cns-and-oligodendrocyte-precursor-cells
#18
Larry S Sherman, Stephen A Back
No abstract text is available yet for this article.
August 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28812050/caveats-in-the-established-understanding-of-cmt1a
#19
Jun Li
Charcot-Marie-Tooth disease type-1A (CMT1A) is one of the most common types of inherited peripheral nerve diseases. It is caused by the trisomy of chromosome 17p12 (c17p12), a large DNA segment of 1.4 Mb containing PMP22 plus eight other genes. The size of c17p12 is formidable for any cloning technique to manipulate, and thus precludes production of models in vitro and in vivo that can precisely recapitulate the genetic alterations in humans with CMT1A. This limitation and other factors have led to several assumptions, which have yet been carefully scrutinized, serving as key principles in our understanding of the disease...
August 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28812049/importance-of-adiponectin-activity-in-the-pathogenesis-of-alzheimer-s-disease
#20
REVIEW
Masaaki Waragai, Gilbert Ho, Yoshiki Takamatsu, Kazunari Sekiyama, Shuei Sugama, Takato Takenouchi, Eliezer Masliah, Makoto Hashimoto
A recent study suggested that insulin resistance may play a central role in the pathogenesis of Alzheimer's disease (AD). In this regard, it is of note that upregulation of plasma adiponectin (APN), a benign adipokine that sensitizes the insulin receptor signaling pathway and suppresses inflammation, has recently been associated with the severities of amyloid deposits and cognitive deficits in the elderly, suggesting that APN may enhance the risk of AD. These results are unanticipated because AD has been linked to type II diabetes and other metabolic disorders in which hypoadiponectinemia has been firmly established, and because APN ameliorated neuropathological features in a mouse model of neurodegeneration...
August 2017: Annals of Clinical and Translational Neurology
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