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Annals of Clinical and Translational Neurology

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https://www.readbyqxmd.com/read/30349866/g1m1-predominance-of-intrathecal-virus-specific-antibodies-in-multiple-sclerosis
#1
Alina Tomescu-Baciu, Frode Vartdal, Trygve Holmøy, Christian A Vedeler, Andreas Lossius
We have previously shown that plasmablasts of the G1m1 allotype of IgG1 are selectively enriched in the cerebrospinal fluid of G1m1/G1m3 heterozygous patients with multiple sclerosis, whereas both allotypes are equally used in neuroborreliosis. Here, we demonstrate a strong preference for the G1m1 allotype in the intrathecal humoral immune responses against measles, rubella, and varicella zoster virus in G1m1/G1m3 heterozygous multiple sclerosis patients. Conversely, intrathecally synthesized varicella zoster virus-specific IgG1 in varicella zoster virus meningoencephalitis comprised both allotypes...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349865/variably-protease-sensitive-prionopathy-presenting-within-als-ftd-spectrum
#2
Mikel Vicente-Pascual, Marcello Rossi, Josep Gámez, Albert Lladó, Josep Valls, Oriol Grau-Rivera, Rainiero Ávila Polo, Franc Llorens, Inga Zerr, Isidre Ferrer, Carlos Nos, Piero Parchi, Raquel Sánchez-Valle, Ellen Gelpí
We report clinico-pathological features of a 65-year-old woman and a 56-year-old man with a 5-year clinical history who had clinical and neuropathological characteristics of upper and lower motor neuron disease consistent with amyotrophic lateral sclerosis, and a frontotemporal atrophy pattern in case 2 without TDP-43 pathology. Instead, spongiform change and pathological prion protein deposits were observed in several brain regions. No prion protein gene mutations were found. Western blot analysis showed a five-band profile compatible with variably protease-sensitive prionopathy...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349864/-18-f-av-1451-binding-is-increased-in-frontotemporal-dementia-due-to-c9orf72-expansion
#3
Richard W Bevan-Jones, Thomas E Cope, Simon P Jones, Luca Passamonti, Young T Hong, Tim Fryer, Robert Arnold, Jonathan P Coles, Franklin A Aigbirhio, Karalyn Patterson, John T O'Brien, James B Rowe
The PET ligand [18 F]AV-1451 was developed to bind tau pathology in Alzheimer's disease, but increased binding has been shown in both genetic tauopathies and in semantic dementia, a disease strongly associated with TDP-43 pathology. Here we assessed [18 F]AV-1451 binding in behavioral variant frontotemporal dementia due to a hexanucleotide repeat expansion in C9orf72, characterized by TDP-43 pathology. We show that the C9orf72 mutation increases binding in frontotemporal cortex, with a distinctive distribution of binding compared with healthy controls...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349863/differential-impact-of-behavioral-social-and-emotional-apathy-on-parkinson-s-disease
#4
Yuen-Siang Ang, Patricia L Lockwood, Annika Kienast, Olivia Plant, Daniel Drew, Elitsa Slavkova, Marin Tamm, Masud Husain
Apathy is highly prevalent in Parkinson's disease. New findings suggest the syndrome is multifaceted. Here, we investigate whether all aspects of apathy are equally affected in Parkinson's disease and whether different dimensions of apathy were associated with depression and anhedonia. On the Apathy Motivation Index, while behavioral apathy and social apathy were elevated, emotional motivation was relatively preserved in Parkinson's disease, although a few patients did show impaired emotional sensitivity. Behavioral and social, but not emotional, apathy was associated with depression and anhedonia...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349862/phenotypic-expansion-in-ddx3x-a-common-cause-of-intellectual-disability-in-females
#5
Xia Wang, Jennifer E Posey, Jill A Rosenfeld, Carlos A Bacino, Fernando Scaglia, LaDonna Immken, Jill M Harris, Scott E Hickey, Theresa M Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S Leduc, Weimin He, Francesco Vetrini, Magdalena A Walkiewicz, Weimin Bi, Rui Xiao, Pengfei Liu, Yunru Shao, Alper Gezdirici, Elif Y Gulec, Yunyun Jiang, Sandra A Darilek, Adam W Hansen, Michael M Khayat, Davut Pehlivan, Juliette Piard, Donna M Muzny, Neil Hanchard, John W Belmont, Lionel Van Maldergem, Richard A Gibbs, Mohammad K Eldomery, Zeynep C Akdemir, Adekunle M Adesina, Shan Chen, Yi-Chien Lee, Brendan Lee, James R Lupski, Christine M Eng, Fan Xia, Yaping Yang, Brett H Graham, Paolo Moretti
De novo variants in DDX3X account for 1-3% of unexplained intellectual disability (ID) cases and are amongst the most common causes of ID especially in females. Forty-seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique DDX3X variants, including 30 postnatal individuals with complex clinical presentations of developmental delay or ID, and one fetus with abnormal ultrasound findings. Rare or novel phenotypes observed include respiratory problems, congenital heart disease, skeletal muscle mitochondrial DNA depletion, and late-onset neurologic decline...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349861/maternal-immune-activation-alters-brain-microrna-expression-in-mouse-offspring
#6
Jun-Sang Sunwoo, Daejong Jeon, Soon-Tae Lee, Jangsup Moon, Jung-Suk Yu, Dong-Kyu Park, Ji-Yeon Bae, Doo Young Lee, Sangwoo Kim, Keun-Hwa Jung, Kyung-Il Park, Ki-Young Jung, Manho Kim, Sang Kun Lee, Kon Chu
Objective: Maternal immune activation (MIA) is associated with an increased risk of autism spectrum disorder (ASD) in offspring. Herein, we investigate the altered expression of microRNAs (miRNA), and that of their target genes, in the brains of MIA mouse offspring. Methods: To generate MIA model mice, pregnant mice were injected with polyriboinosinic:polyribocytidylic acid on embryonic day 12.5. We performed miRNA microarray and mRNA sequencing in order to determine the differential expression of miRNA and mRNA between MIA mice and controls, at 3 weeks of age...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349860/cerebrospinal-fluid-biomarkers-predict-frontotemporal-dementia-trajectory
#7
Peter A Ljubenkov, Adam M Staffaroni, Julio C Rojas, Isabel E Allen, Ping Wang, Hilary Heuer, Anna Karydas, John Kornak, Yann Cobigo, William W Seeley, Lea T Grinberg, Salvatore Spina, Anne M Fagan, Gina Jerome, David Knopman, Brad F Boeve, Bradford C Dickerson, Joel Kramer, Bruce Miller, Adam L Boxer, Howard J Rosen
Objective: The prognostic value of cerebrospinal fluid neurofilament light chain, total tau, phosphorylated tau181 , and amyloid beta1-42 was examined in frontotemporal dementia subtypes. Methods: We compared baseline biomarkers between 49 controls, 40 patients with behavioral variant frontotemporal dementia, 24 with semantic variant primary progressive aphasia, and 26 with nonfluent variant primary progressive aphasia. Linear mixed effect models were used to assess the value of baseline biomarkers in predicting clinical and radiographic change in patient cohorts over multiple yearly follow up visits...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349859/neurex-digitalized-neurological-examination-offers-a-novel-high-resolution-disability-scale
#8
Peter Kosa, Christopher Barbour, Alison Wichman, Mary Sandford, Mark Greenwood, Bibiana Bielekova
Objective: To develop a sensitive neurological disability scale for broad utilization in clinical practice. Methods: We employed advances of mobile computing to develop an iPad-based App for convenient documentation of the neurological examination into a secure, cloud-linked database. We included features present in four traditional neuroimmunological disability scales and codified their automatic computation. By combining spatial distribution of the neurological deficit with quantitative or semiquantitative rating of its severity we developed a new summary score (called NeurEx; ranging from 0 to 1349 with minimal measurable change of 0...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349858/decreased-plasma-c-reactive-protein-levels-in-apoe-%C3%AE%C2%B5-4-allele-carriers
#9
Henna Martiskainen, Mari Takalo, Alina Solomon, Alena Stančáková, Mikael Marttinen, Teemu Natunen, Annakaisa Haapasalo, Sanna-Kaisa Herukka, Johanna Kuusisto, Hilkka Soininen, Miia Kivipelto, Markku Laakso, Mikko Hiltunen
Objective: Apolipoprotein E ( APOE ) ε 4 allele is a well-established risk factor in Alzheimer's disease (AD). Here, we assessed the effects of APOE polymorphism on cardiovascular, metabolic, and inflammation-related parameters in population-based cohorts. Methods: Association of cardiovascular, metabolic, and inflammation-related parameters with the APOE polymorphism in a large Finnish Metabolic Syndrome in Men (METSIM) cohort and Finnish Geriatric Intervention study to prevent cognitive impairment and disability (FINGER) were investigated...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349857/heterogeneity-in-association-of-remote-herpesvirus-infections-and-pediatric-ms
#10
Bardia Nourbakhsh, Alice Rutatangwa, Michael Waltz, Mary Rensel, Manikum Moodley, Jennifer Graves, Theron Charles Casper, Amy Waldman, Anita Belman, Benjamin Greenberg, Manu Goyal, Yolanda Harris, Ilana Kahn, Timothy Lotze, Soe Mar, Teri Schreiner, Gregory Aaen, Janace Hart, Jayne Ness, Jennifer Rubin, Jan-Mendelt Tillema, Lauren Krupp, Mark Gorman, Leslie Benson, Moses Rodriguez, Tanuja Chitnis, John Rose, Meghan Candee, Bianca Weinstock-Guttman, Xiaorong Shao, Lisa Barcellos, Judith James, Emmanuelle Waubant
Objective: While prior Epstein-Barr virus (EBV) infection has been consistently associated with subsequent risk of developing multiple sclerosis (MS), the association with other common herpesviruses has been more controversial. Our objectives were to determine whether remote infection with EBV and other common herpesviruses affect the susceptibility to pediatric MS and if there are interactions between genetic and demographic factors and viral infections. Methods: Cases with pediatric-onset MS or clinically isolated syndrome within 4 years of disease onset, and controls were recruited from 16 American pediatric MS centers...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349856/altered-tryptophan-metabolism-is-associated-with-pediatric-multiple-sclerosis-risk-and-course
#11
Bardia Nourbakhsh, Pavan Bhargava, Helen Tremlett, Janace Hart, Jennifer Graves, Emmanuelle Waubant
Objective: To determine if altered tryptophan (Trp) metabolism is associated with MS risk or disease severity in children. Methods: Participants with pediatric-onset MS and clinically isolated syndrome (CIS) within 4 years of disease onset and healthy controls underwent collection of serum. Longitudinal disability and processing speed measures and relapse data were collected in cases. Global metabolomics were conducted in 69/67 cases/controls. Targeted Trp measurement was performed in a discovery group (82 cases, 50 controls) and a validation group (92 cases, 50 controls), while functional gut microbiome analysis was done in 17 cases...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349855/multimodal-computational-neocortical-anatomy-in-pediatric-hippocampal-sclerosis
#12
Sophie Adler, Mallory Blackwood, Gemma B Northam, Roxana Gunny, Seok-Jun Hong, Boris C Bernhardt, Andrea Bernasconi, Neda Bernasconi, Thomas Jacques, Martin Tisdall, David W Carmichael, J Helen Cross, Torsten Baldeweg
Objective: In contrast to adult cohorts, neocortical changes in epileptic children with hippocampal damage are not well characterized. Here, we mapped multimodal neocortical markers of epilepsy-related structural compromise in a pediatric cohort of temporal lobe epilepsy and explored how they relate to clinical factors. Methods: We measured cortical thickness, gray-white matter intensity contrast and intracortical FLAIR intensity in 22 patients with hippocampal sclerosis (HS) and 30 controls...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349854/effect-of-smoking-cessation-on-the-risk-of-dementia-a-longitudinal-study
#13
Daein Choi, Seulggie Choi, Sang Min Park
Objective: To determine the risk of developing dementia in relation to duration of smoking cessation by using a nationwide health claims database. Methods: This cohort study included 46,140 men aged 60 years or older from Korean National Health Insurance System - National Health Screening Cohort, a population-based national health screening program from 2002 to 2013. The changes in smoking habit from a questionnaire during the first (2002 and 2003) and second (2004 and 2005) health examination periods, participants were divided into continual smokers, short-term (less than 4 years) quitters, long-term (4 years or more) quitters, and never smokers...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349853/aging-and-apoe-%C3%AE%C2%B54-are-determinative-factors-of-plasma-a-%C3%AE-42-levels
#14
Takumi Nakamura, Takeshi Kawarabayashi, Yusuke Seino, Mie Hirohata, Naoko Nakahata, Sakiko Narita, Ken Itoh, Shigeyuki Nakaji, Mikio Shoji
Objective: The aim of this study was to confirm determinative factors for plasma A β and its association with cognitive function. Methods: Fasting plasma A β 40 and A β 42 levels were measured by ELISA in 1019 participants in the Iwaki Health Promotion Project. The relationships between plasma A β and health-related items, including physical characteristics, cognitive function tests, blood chemistry, and APOE-ε4 genotype were analyzed. Results: The plasma levels of A β 40 and A β 42, and A β 40/42 ratio were found to significantly increase with aging...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349852/alcohol-consumption-and-probable-rapid-eye-movement-sleep-behavior-disorder
#15
Chaoran Ma, Milena Pavlova, Junjuan Li, Ying Liu, Yujie Sun, Zhe Huang, Shouling Wu, Xiang Gao
Objective: To systematically examine the association between alcohol intake and likelihood of having probable rapid eye movement sleep behavior disorder (pRBD) 6 years later. Methods: The study included 11,905 participants (mean age: 47.7 years) of the Kailuan Study, free of stroke, cancer, Parkinson disease, dementia, and head injury in 2006. We determined pRBD using a validated RBD questionnaire-Hong Kong in 2012. Amounts and types of alcohol intake were collected with questionnaire...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349851/novel-csf-biomarkers-to-discriminate-ftld-and-its-pathological-subtypes
#16
Marta Del Campo, Daniela Galimberti, Naura Elias, Lynn Boonkamp, Yolande A Pijnenburg, John C van Swieten, Kelly Watts, Silvia Paciotti, Tommaso Beccari, William Hu, Charlotte E Teunissen
Objective: Frontotemporal lobar degeneration (FTLD) is the second most prevalent dementia in young patients and is characterized by the presence of two main protein aggregates in the brain, tau (FTLD-Tau) or TDP43 (FTLD-TDP), which likely require distinct pharmacological therapy. However, specific diagnosis of FTLD and its subtypes remains challenging due to largely overlapping clinical phenotypes. Here, we aimed to assess the clinical performance of novel cerebrospinal fluid (CSF) biomarkers for discrimination of FTLD and its pathological subtypes...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349850/predictors-of-response-to-opicinumab-in-acute-optic-neuritis
#17
Diego Cadavid, Laura Balcer, Steven Galetta, Orhan Aktas, Tjalf Ziemssen, Ludo J Vanopdenbosch, Letizia Leocani, Mark S Freedman, Gordon T Plant, Jana Lizrova Preiningerova, Focke Ziemssen, Luca Massacesi, Yi Chai, Lei Xu
Objective: The objective of this study was to evaluate prespecified and post hoc analyses in RENEW subgroups to identify participants more likely to benefit from opicinumab. Methods: RENEW assessed the efficacy/safety of opicinumab versus placebo in participants with a first unilateral acute optic neuritis (AON) episode. Difference in visual evoked potential (VEP) latency of the affected eye at 24 weeks versus the fellow eye at baseline was the primary endpoint...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349849/urban-air-quality-and-associations-with-pediatric-multiple-sclerosis
#18
Amy M Lavery, Emmanuelle Waubant, T Charles Casper, Shelly Roalstad, Meghan Candee, John Rose, Anita Belman, Bianca Weinstock-Guttman, Greg Aaen, Jan-Mendelt Tillema, Moses Rodriguez, Jayne Ness, Yolanda Harris, Jennifer Graves, Lauren Krupp, Leigh Charvet, Leslie Benson, Mark Gorman, Manikum Moodley, Mary Rensel, Manu Goyal, Soe Mar, Tanuja Chitnis, Teri Schreiner, Tim Lotze, Benjamin Greenberg, Ilana Kahn, Jennifer Rubin, Amy T Waldman
Background: We previously identified air quality as a risk factor of interest for pediatric multiple sclerosis. The purpose of this study is to more closely examine the association between the six criteria air pollutants and pediatric MS as well as identify specific areas of toxic release using data from the Toxic Release Inventory. Methods: Pediatric MS cases ( N = 290) and healthy controls ( N = 442) were included as part of an ongoing case-control study. We used the National Emissions Inventory system to estimate particulate exposure by county of residence for each participant...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30250871/reply-to-comment-on-zika-virus-and-guillain-barr%C3%A3-syndrome-in-bangladesh
#19
Corine H GeurtsvanKessel, Zhahirul Islam, Bart C Jacobs, Hubert P Endtz
No abstract text is available yet for this article.
September 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30250870/comment-on-zika-virus-and-guillain-barr%C3%A3-syndrome-in-bangladesh
#20
Yhojan Rodríguez, Juan-Manuel Anaya
No abstract text is available yet for this article.
September 2018: Annals of Clinical and Translational Neurology
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