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Annals of Neurology

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https://www.readbyqxmd.com/read/29908079/targeted-brain-proteomics-uncover-multiple-pathways-to-alzheimer-s-dementia
#1
Lei Yu, Vladislav A Petyuk, Chris Gaiteri, Sara Mostafavi, Tracy Young-Pearse, Raj C Shah, Aron S Buchman, Julie A Schneider, Paul D Piehowski, Ryan L Sontag, Thomas L Fillmore, Tujin Shi, Richard D Smith, Philip L De Jager, David A Bennett
OBJECTIVE: Previous gene expression analysis identified a network of co-expressed genes that is associated with β-amyloid neuropathology and cognitive decline in older adults. The current work targeted influential genes in this network with quantitative proteomics to identify potential novel therapeutic targets. METHODS: Data came from 834 community-based older persons who were followed annually, died and underwent brain autopsy. Uniform structured postmortem evaluations assessed the burden of β-amyloid and other common age-related neuropathologies...
June 16, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29908077/genome-sequencing-uncovers-phenocopies-in-primary-progressive-multiple-sclerosis
#2
Xiaoming Jia, Lohith Madireddy, Stacy Caillier, Adam Santaniello, Federica Esposito, Giancarlo Comi, Olaf Stuve, Yuan Zhou, Bruce Taylor, Trevor Kilpatrick, Filippo Martinelli-Boneschi, Bruce A C Cree, Jorge R Oksenberg, Stephen L Hauser, Sergio E Baranzini
OBJECTIVE: Primary progressive multiple sclerosis (PPMS) causes accumulation of neurologic disability from disease onset without clinical attacks typical of relapsing multiple sclerosis (RMS). However, whether genetic variation influences the disease course remains unclear. We aimed to determine whether mutations causative of neurologic disorders that share features with MS contribute to risk for developing PPMS. METHODS: We examined whole-genome sequencing (WGS) data from 38 PPMS and 81 healthy subjects of European ancestry...
June 16, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29908075/repair-after-brainstem-ischemia-involves-neurogenesis-and-the-rubrospinal-system
#3
Theodor Rüber, Gottfried Schlaug
No abstract text is available yet for this article.
June 16, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29908063/oligonucleotide-therapy-mitigates-disease-in-spinocerebellar-ataxia-type-3-mice
#4
Hayley S McLoughlin, Lauren R Moore, Ravi Chopra, Robert Komlo, Megan McKenzie, Kate G Blumenstein, Hien Zhao, Holly B Kordasiewicz, Vikram G Shakkottai, Henry L Paulson
OBJECTIVE: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common dominantly inherited ataxia. Despite advances in understanding this CAG repeat/polyglutamine expansion disease, there are still no therapies to alter its progressive fatal course. Here we investigate whether an antisense oligonucleotide (ASO) targeting the SCA3 disease gene, ATXN3, can prevent molecular, neuropathological, electrophysiological and behavioral features of the disease in a mouse model of SCA3...
June 16, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29908061/collaborative-science-unites-researchers-and-a-novel-spastic-ataxia-gene
#5
Brent L Fogel
No abstract text is available yet for this article.
June 16, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29752739/filter-probe-diffusion-imaging-improves-spinal-cord-injury-outcome-prediction
#6
Nathan P Skinner, Seung-Yi Lee, Shekar N Kurpad, Brian D Schmit, L Tugan Muftuler, Matthew D Budde
OBJECTIVE: Diffusion weighted imaging (DWI) is a powerful tool for investigating spinal cord injury (SCI), but has limited specificity for axonal damage- the most predictive feature of long-term functional outcome. In this study, a technique designed to detect acute axonal injury, filter-probe double diffusion encoding (FP-DDE) is compared with standard DWI for predicting long-term functional and cellular outcomes. METHODS: This study extends FP-DDE to predict long-term functional and histological outcomes in a rat SCI model of varying severities(n=58)...
May 11, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29752736/chronic-traumatic-encephalopathy-and-age-of-first-exposure-to-american-style-football
#7
Alvaro Pascual-Leone, Ross D Zafonte
No abstract text is available yet for this article.
May 11, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29740908/reply-to-cortico-pallidal-connectivity-lessons-from-patients-with-dystonia
#8
LETTER
Zhen Ni, Mark Hallett, Robert Chen
No abstract text is available yet for this article.
May 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29740898/intriguing-association-of-parkinson-disease-and-epileptic-seizures
#9
LETTER
Stevo Lukić, Boban Biševac, Nataša Krstić
No abstract text is available yet for this article.
May 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29740876/reply-to-%C3%A2-intriguing-association-of-parkinson-disease-and-epileptic-seizures-%C3%A2
#10
LETTER
Katharina Gruntz, Peter Fuhr, Christoph Meier, Stephan Rüegg
No abstract text is available yet for this article.
May 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29740872/prodromal-symptoms-of-multiple-sclerosis-in-primary-care
#11
Giulio Disanto, Chiara Zecca, Sharon MacLachlan, Rosaria Sacco, Lahiru Handunnetthi, Ute C Meier, Alex Simpson, Laura McDonald, Andrea Rossi, Pascal Benkert, Jens Kuhle, Sreeram V Ramagopalan, Claudio Gobbi
OBJECTIVE: Early diagnosis and treatment initiation significantly influence long term disability outcome in multiple sclerosis (MS). We aimed at identifying prodromal symptoms of MS in primary care settings. METHODS: This was a nested case-control study comparing the occurrence of various symptoms in MS patients vs controls at 0-2, 2-5 and 5-10 years before index date (first MS record). A total of 10,204 incident MS cases were identified within the UK Clinical Practice Research Datalink (CPRD) between 01/01/1987 and 28/02/2016 (median (IQR) age=47 (39-57) years, females=7,308 (71...
May 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29740868/de-novo-gain-of-function-variants-in-kcnt2-as-a-novel-cause-of-developmental-and-epileptic-encephalopathy
#12
Paolo Ambrosino, Maria Virginia Soldovieri, Thomas Bast, Peter D Turnpenny, Sabine Uhrig, Saskia Biskup, Miriam Döcker, Thilo Fleck, Ilaria Mosca, Laura Manocchio, Nunzio Iraci, Maurizio Taglialatela, Johannes R Lemke
Variants in several potassium channel genes have been found in developmental and epileptic encephalopathies (DEE). We report two females with de novo variants in KCNT2 with West syndrome followed by Lennox-Gastaut syndrome or with DEE with migrating focal seizures. After in vitro analysis suggested quinidine-responsive gain-of-function effects, we treated one of the girls with quinidine add-on therapy and achieved marked clinical improvements. This suggests that the new spectrum of KCNT2-related disorders do not only share similar phenotypic and in vitro functional and pharmacological features with previously known KCNT1-related disorders but also represents a further example for possible precision medicine approaches...
May 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29740862/integrated-mri-and-11-c-pbr28-pet-imaging-in-amyotrophic-lateral-sclerosis
#13
Mohamad J Alshikho, Nicole R Zürcher, Marco L Loggia, Paul Cernasov, Beverly Reynolds, Olivia Pijanowski, Daniel B Chonde, David Izquierdo Garcia, Caterina Mainero, Ciprian Catana, James Chan, Suma Babu, Sabrina Paganoni, Jacob M Hooker, Nazem Atassi
OBJECTIVE: To characterize [11 C]-PBR28 brain uptake using positron emission tomography (PET) in people with amyotrophic lateral sclerosis (ALS), and primary lateral sclerosis (PLS). We have previously shown increased [11 C]-PBR28 uptake in the precentral gyrus in a small group of ALS patients. Herein, we confirm our initial finding, study the longitudinal changes, and characterize the gray vs. white matter distribution of [11 C]-PBR28 uptake in a larger cohort of patients with ALS and PLS...
May 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29740860/recurrent-scn3a-p-ile875thr-variant-in-patients-with-polymicrogyria
#14
LETTER
Satoko Miyatake, Mitsuhiro Kato, Yukio Sawaishi, Takashi Saito, Mitsuko Nakashima, Takeshi Mizuguchi, Satomi Mitsuhashi, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto
No abstract text is available yet for this article.
May 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29740859/cortico-pallidal-connectivity-lessons-from-patients-with-dystonia
#15
LETTER
Alberto Cacciola, Demetrio Milardi, Giuseppe Anastasi, Angelo Quartarone
No abstract text is available yet for this article.
May 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29740856/reply-to-recurrent-scn3a-p-ile875thr-variant-in-patients-with-polymicrogyria
#16
LETTER
Ethan M Goldberg, Ingo Helbig
No abstract text is available yet for this article.
May 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29733464/randomized-trial-of-lacosamide-vs-fosphenytoin-for-nonconvulsive-seizures
#17
Aatif M Husain, Jong W Lee, Bradley J Kolls, Lawrence J Hirsch, Jonathan J Halford, Puneet K Gupta, Yafa Minazad, Jennifer M Jones, Suzette M LaRoche, Susan T Herman, Christa B Swisher, Saurabh R Sinha, Adriana Palade, Keith E Dombrowski, William B Gallentine, Cecil D Hahn, Elizabeth E Gerard, Manjushri Bhapkar, Yuliya Lokhnygina, M Brandon Westover
OBJECTIVE: The optimal treatment of nonconvulsive seizures in critically ill patients is uncertain. We evaluated the comparative effectiveness of antiseizure drugs (ASD) lacosamide (LCM) and fosphenytoin (fPHT) in this population. METHODS: The Treatment of Recurrent Electrographic Nonconvulsive Seizures (TRENdS) study was a non-inferiority, prospective, multicenter, randomized treatment trial of patients diagnosed with NCS by continuous electroencephalography (cEEG)...
May 7, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29733457/age-related-changes-in-the-gut-microbiota-influence-systemic-inflammation-and-stroke-outcome
#18
Monica S Spychala, Venugopal Reddy Venna, Michal Jandzinski, Sarah J Doran, David J Durgan, Bhanu Priya Ganesh, Nadim J Ajami, Nagireddy Putluri, Joerg Graf, Robert M Bryan, Louise D McCullough
Objective Chronic systemic inflammation contributes to the pathogenesis of many age-related diseases. Although not well understood, alterations in the gut microbiota, or dysbiosis, may be responsible for age-related inflammation. Methods Using stroke as a disease model, we tested the hypothesis that a youthful microbiota, when established in aged mice, produces positive outcomes following ischemic stroke. Conversely, an aged microbiota, when established in young mice, produces negative outcomes after stroke...
May 7, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29727475/subthalamic-nucleus-deep-brain-stimulation-evokes-resonant-neural-activity
#19
Nicholas C Sinclair, Hugh J McDermott, Kristian J Bulluss, James B Fallon, Thushara Perera, San San Xu, Peter Brown, Wesley Thevathasan
Deep brain stimulation (DBS) is a rapidly expanding treatment for neurological and psychiatric conditions; however, a target-specific biomarker is required to optimize therapy. Here, we show that DBS evokes a large-amplitude resonant neural response focally in the subthalamic nucleus. This response is greatest in the dorsal region (the clinically optimal stimulation target for Parkinson disease), coincides with improved clinical performance, is chronically recordable, and is present under general anesthesia...
May 4, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29710395/age-of-first-exposure-to-tackle-football-and-chronic-traumatic-encephalopathy
#20
Michael L Alosco, Jesse Mez, Yorghos Tripodis, Patrick T Kiernan, Bobak Abdolmohammadi, Lauren Murphy, Neil W Kowall, Thor D Stein, Bertrand Russell Huber, Lee E Goldstein, Robert C Cantu, Douglas I Katz, Christine E Chaisson, Brett Martin, Todd M Solomon, Michael D McClean, Daniel H Daneshvar, Christopher J Nowinski, Robert A Stern, Ann C McKee
OBJECTIVE: To examine the effect of age of first exposure to tackle football on CTE pathological severity and age of neurobehavioral symptom onset in tackle football players with neuropathologically-confirmed CTE. METHODS: The sample included 246 tackle football players who donated their brains for neuropathological examination. 211 were diagnosed with CTE (126/211 were without comorbid neurodegenerative diseases) and 35 were without CTE. Informant interviews ascertained age of first exposure and age of cognitive and behavioral/mood symptom onset...
April 30, 2018: Annals of Neurology
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