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https://www.readbyqxmd.com/read/28102150/ultra-rare-genetic-variation-in-common-epilepsies-a-case-control-sequencing-study
#1
(no author information available yet)
BACKGROUND: Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional gene-discovery analyses. We aimed to assess the contribution of ultra-rare genetic variation to common epilepsies. METHODS: We did a case-control sequencing study with exome sequence data from unrelated individuals clinically evaluated for one of the two most common epilepsy syndromes: familial genetic generalised epilepsy, or familial or sporadic non-acquired focal epilepsy...
February 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28095900/post-stroke-dementia-a-comprehensive-review
#2
REVIEW
Milija D Mijajlović, Aleksandra Pavlović, Michael Brainin, Wolf-Dieter Heiss, Terence J Quinn, Hege B Ihle-Hansen, Dirk M Hermann, Einor Ben Assayag, Edo Richard, Alexander Thiel, Efrat Kliper, Yong-Il Shin, Yun-Hee Kim, SeongHye Choi, San Jung, Yeong-Bae Lee, Osman Sinanović, Deborah A Levine, Ilana Schlesinger, Gillian Mead, Vuk Milošević, Didier Leys, Guri Hagberg, Marie Helene Ursin, Yvonne Teuschl, Semyon Prokopenko, Elena Mozheyko, Anna Bezdenezhnykh, Karl Matz, Vuk Aleksić, DafinFior Muresanu, Amos D Korczyn, Natan M Bornstein
Post-stroke dementia (PSD) or post-stroke cognitive impairment (PSCI) may affect up to one third of stroke survivors. Various definitions of PSCI and PSD have been described. We propose PSD as a label for any dementia following stroke in temporal relation. Various tools are available to screen and assess cognition, with few PSD-specific instruments. Choice will depend on purpose of assessment, with differing instruments needed for brief screening (e.g., Montreal Cognitive Assessment) or diagnostic formulation (e...
January 18, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28064358/incipient-progressive-supranuclear-palsy-is-more-common-than-expected-and-may-comprise-clinicopathological-subtypes-a-forensic-autopsy-series
#3
Koji Yoshida, Yukiko Hata, Koshi Kinoshita, Shutaro Takashima, Kortaro Tanaka, Naoki Nishida
We investigated 998 serial Japanese forensic autopsy cases (0-101 years old, mean age 61.7 ± 21.9), with no case selection, using immunohistochemistry to detect cases with progressive supranuclear palsy (PSP). Twenty-nine cases (mean age 82.3 ± 7.2 years, 11 males, 18 females) fulfilled the National Institute of Neuronal Disorders and Stroke (NINDS)-PSP pathological criteria (2.9% of all cases, 4.6% of cases over 60). All had neuronal and glial inclusions in the basal ganglia and brainstem. However, 13 cases had low tau pathology and were categorized as atypical PSP...
January 7, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28007518/understanding-falls-in-progressive-supranuclear-palsy
#4
Brent Bluett, Irene Litvan, Shumin Cheng, Jorge Juncos, David E Riley, David G Standaert, Stephen G Reich, Deborah A Hall, Benzi Kluger, David Shprecher, Connie Marras, Joseph Jankovic
INTRODUCTION: Progressive supranuclear palsy (PSP) is characterized by frequent falls which worsen with disease progression, causing substantial morbidity and mortality. Few studies have investigated which factors contribute to falls in PSP, and all have involved few participants, thus lacking necessary statistical power. The aim of this study was to identify clinical parameters most significantly associated with increasing falls in PSP, using the largest sample of patients to date. METHODS: Comprehensive clinical data were collected from 339 not demented PSP patients meeting the NINDS-SPSP criteria, who were divided into two groups - Infrequent Fallers (IF; n = 118) with rare falls, and Frequent Fallers (FF; n = 221) who fell occasionally to multiple times a day...
December 15, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27997041/genetic-variation-at-16q24-2-is-associated-with-small-vessel-stroke
#5
Matthew Traylor, Rainer Malik, Mike A Nalls, Ioana Cotlarciuc, Farid Radmanesh, Gudmar Thorleifsson, Ken B Hanscombe, Carl Langefeld, Danish Saleheen, Natalia S Rost, Idil Yet, Tim D Spector, Jordana T Bell, Eilis Hannon, Jonathan Mill, Ganesh Chauhan, Stephanie Debette, Joshua C Bis, W T Longstreth, M Arfan Ikram, Lenore J Launer, Sudha Seshadri, Jordi Jimenez-Conde, John W Cole, Reinhold Schmidt, Agnieszka Słowik, Robin Lemmens, Arne Lindgren, Olle Melander, Raji P Grewal, Ralph L Sacco, Tatjana Rundek, Kathryn Rexrode, Donna K Arnett, Julie A Johnson, Oscar R Benavente, Sylvia Wasssertheil-Smoller, Jin-Moo Lee, Sara L Pulit, Quenna Wong, Stephen S Rich, Paul I W de Bakker, Patrick F McArdle, Daniel Woo, Christopher D Anderson, Huichun Xu, Laura Heitsch, Myriam Fornage, Christina Jern, Kari Stefansson, Unnur Thorsteinsdottir, Solveig Gretarsdottir, Cathryn M Lewis, Pankaj Sharma, Cathie L M Sudlow, Peter M Rothwell, Giorgio B Boncoraglio, Vincent Thijs, Chris Levi, James F Meschia, Jonathan Rosand, Steven J Kittner, Braxton D Mitchell, Martin Dichgans, Bradford B Worrall, Hugh S Markus
OBJECTIVE: Genome-wide association studies (GWAS) have been successful at identifying associations with stroke and stroke subtypes, but have not yet identified any associations solely with small vessel stroke (SVS). SVS comprises a quarter of all ischaemic stroke and is a major manifestation of cerebral small vessel disease, the primary cause of vascular cognitive impairment. Studies across neurological traits have shown younger onset cases have an increased genetic burden. We leveraged this increased genetic burden by performing an age-at-onset informed GWAS meta-analysis, including a large younger onset SVS population, to identify novel associations with stroke...
December 20, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27936952/reliability-of-the-ninds-common-data-elements-cranial-tomography-ct-rating-variables-for-traumatic-brain-injury-tbi
#6
Leah Harburg, Erin McCormack, Kimbra Kenney, Carol Moore, Kelly Yang, Pieter Vos, Bram Jacobs, Christopher J Madden, Ramon Diaz-Arrastia, Tanya Bogoslovsky
BACKGROUND: Non-contrast head computer tomography (CT) is widely used to evaluate eligibility of patients after acute traumatic brain injury (TBI) for clinical trials. The NINDS Common Data Elements (CDEs) TBI were developed to standardize collection of CT variables. The objectives of this study were to train research assistants (RAs) to rate CDEs and then to evaluate their performance. The aim was to assess inter-rater reliability (IRR) of CDEs between trained RAs and a neurologist and to evaluate applicability of CDEs in acute and sub-acute TBI to test the feasibility of using CDE CT ratings in future trials and ultimately in clinical practice...
December 12, 2016: Brain Injury: [BI]
https://www.readbyqxmd.com/read/27911341/longer-duration-of-mao-b-inhibitor-exposure-is-associated-with-less-clinical-decline-in-parkinson-s-disease-an%C3%A2-analysis%C3%A2-of%C3%A2-net-pd-ls1
#7
Robert A Hauser, Ruosha Li, Adriana Pérez, Xuehan Ren, Dan Weintraub, Jordan Elm, John L Goudreau, John C Morgan, John Y Fang, Michael J Aminoff, Chadwick W Christine, Rohit Dhall, Chizoba C Umeh, James T Boyd, Natividad Stover, Maureen Leehey, Richard M Zweig, Anthony P Nicholas, Ivan Bodis-Wollner, Allison Willis, Karl Kieburtz, Barbara C Tilley
BACKGROUND: Monoamine oxidase type B (MAO-B) inhibitors exhibit neuroprotective effects in preclinical models of PD but clinical trials have failed to convincingly demonstrate disease modifying benefits in PD patients. OBJECTIVE: To perform a secondary analysis of NET-PD LS1 to determine if longer duration of MAO-B inhibitor exposure was associated with less clinical decline. METHODS: The primary outcome measure was the Global Outcome (GO), comprised of 5 measures: change from baseline in the Schwab and England (ADL) scale, the 39-item Parkinson's Disease Questionnaire (PDQ-39), the UPDRS Ambulatory Capacity Scale, the Symbol Digit Modalities Test, and the most recent Modified Rankin Scale...
November 30, 2016: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/27905359/-clinical-and-neuropsychological-features-of-alzheimer-s-disease-in-the-combination-with-cerebrovascular-disease
#8
N A Trusova, O S Levin, A V Arablinsky
AIM: To study clinical/neuropsychological and neuroimaging characteristics of Alzheimer's disease in the combination with cerebrovascular disease (CVD). MATERIAL AND METHODS: Ninety patients with dementia, including 35 patients with AD, 35 patients with mixed dementia (MD) and 20 patients with vascular dementia, were examined. The character of dementia was established according to NINCDS-ADRDA and NINDS-AIREN criteria. The neuropsychological battery included Addenbrooke's Cognitive Examination (ACE-R), Montreal Cognitive Assessment scale (MoCA), fluency test and the visual memory test (SCT)...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27856650/endovascular-stroke-therapy-may-be-safe-in-patients-with-elevated-international-normalized-ratio
#9
Sibu Mundiyanapurath, Anne Tillmann, Markus Alfred Möhlenbruch, Martin Bendszus, Peter Arthur Ringleb
INTRODUCTION: Endovascular therapy in acute ischemic stroke is safe and efficient. However, patients receiving oral anticoagulation were excluded in the larger trials. OBJECTIVE: To analyze the safety of endovascular therapy in patients with acute ischemic stroke and elevated international normalized ratio (INR) values. METHODS: Retrospective database review of a tertiary care university hospital for patients with anterior circulation stroke treated with endovascular therapy...
November 17, 2016: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/27845358/recommendations-for-the-national-institute-for-neurologic-disorders-and-stroke-spinal-cord-injury-common-data-elements-for-children-and-youth-with-sci
#10
REVIEW
M J Mulcahey, L C Vogel, M Sheikh, J C Arango-Lasprilla, M Augutis, E Garner, E M Hagen, L B Jakeman, E Kelly, R Martin, J Odenkirchen, A Scheel-Sailer, J Schottler, H Taylor, C C Thielen, K Zebracki
STUDY DESIGN: In 2014, the adult spinal cord injury (SCI) common data element (CDE) recommendations were made available. This project was a review of the adult SCI CDE for relevance to children and youth with SCI. OBJECTIVES: The objective of this study was to review the National Institute of Neurologic Disorders and Stroke (NINDS) adult SCI CDEs for relevance to children and youth with SCI. SETTING: International. METHODS: The pediatric working group consisted of international members with varied fields of expertise related to pediatric SCI...
November 15, 2016: Spinal Cord
https://www.readbyqxmd.com/read/27812535/blood-biomarker-for-parkinson-disease-peptoids
#11
Umar Yazdani, Sayed Zaman, Linda S Hynan, L Steven Brown, Richard B Dewey, David Karp, Dwight C German
Parkinson disease (PD) is the second most common neurodegenerative disease. Because dopaminergic neuronal loss begins years before motor symptoms appear, a biomarker for the early identification of the disease is critical for the study of putative neuroprotective therapies. Brain imaging of the nigrostriatal dopamine system has been used as a biomarker for early disease along with cerebrospinal fluid analysis of α-synuclein, but a less costly and relatively non-invasive biomarker would be optimal. We sought to identify an antibody biomarker in the blood of PD patients using a combinatorial peptoid library approach...
2016: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/27797406/the-impact-of-fraudulent-and-irreproducible-data-to-the-translational-research-crisis-solutions-and-implementation
#12
Jörg B Schulz, Mark R Cookson, Laura Hausmann
One of the aims of basic neuroscience research is ultimately the development of therapeutics to cure diseases. Funders granting money to research institutions increasingly express interest into how their financial resources are used and look for successful translation in clinical practice. Disappointingly, many findings that started out promising in basic research projects and phase I trials did not live up to the promise of therapeutic efficacy in later phase II or III trials. An inordinately high amount of time and money is thus spent on research that does not always have the required human impact...
October 2016: Journal of Neurochemistry
https://www.readbyqxmd.com/read/27743701/cognitive-function-in-1736-participants-in-ninds-exploratory-trials-in-pd-long-term-study-1
#13
Anne-Marie A Wills, Jordan J Elm, Rong Ye, Kelvin L Chou, Sotirios A Parashos, Robert A Hauser, Ivan Bodis-Wollner, Vanessa K Hinson, Chadwick W Christine, Jay S Schneider
INTRODUCTION: Clinical cohort studies suggest that mild cognitive impairment (MCI) is common in early Parkinson's disease (PD). The objectives of this paper were to describe cognitive function in a large clinical trial of early treated PD patients at baseline and over time using two brief cognitive screening tests. METHODS: In total 1741 participants were enrolled in the NINDS Exploratory Trials in Parkinson's disease (NET-PD) Long-term Study-1 (LS-1). The Symbol Digit Modalities Test (SDMT) was collected annually...
December 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27742525/validation-of-the-national-institute-of-neurological-disorders-and-stroke-criteria-for-psychosis-in-parkinson-disease
#14
Pedro Caldana Gordon, Maria Sheila G Rocha, Roberta Gomes Kauark, Carlos Daniel Miranda Costa, Maira Okada de Oliveira, Fabio Godinho, Vanderci Borges
OBJECTIVES: Parkinson disease (PD) psychosis is a condition associated with several negative outcomes. Despite its impact, there is a lack of validated diagnostic tools for this condition. In this study, we aim to verify the validity of the proposed NINDS criteria for PD psychosis and explore its possible applications in clinical practice. DESIGN, SETTINGS, PARTICIPANTS: We prospectively selected 104 subjects with idiopathic PD referred to a movement disorder clinic for a cross-sectional evaluation...
January 2017: American Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/27733275/cognitive-impairment-in-parkinson-s-disease-association-between-patient-reported-and-clinically-measured-outcomes
#15
Kelly A Mills, Zoltan Mari, Gregory M Pontone, Alexander Pantelyat, Angela Zhang, Nadine Yoritomo, Emma Powers, Jason Brandt, Ted M Dawson, Liana S Rosenthal
BACKGROUND: In Parkinson's disease, the association between objective and patient-reported measures of cognitive dysfunction is unknown and highly relevant to research and clinical care. OBJECTIVE: To determine which cognitive domain-specific Montreal Cognitive Assessment (MoCA) subscores are most strongly associated with patient-reported cognitive impairment on question 1 (Q1) of the Movement Disorders Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS)...
December 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27723710/-clinical-and-neuropsychological-features-of-alzheimer-s-disease-in-the-combination-with-cerebrovascular-disease
#16
N A Trusova, O S Levin, A V Arablinsky
AIM: To study clinical/neuropsychological and neuroimaging characteristics of Alzheimer's disease in the combination with cerebrovascular disease (CVD). MATERIAL AND METHODS: Ninety patients with dementia, including 35 patients with AD, 35 patients with mixed dementia (MD) and 20 patients with vascular dementia, were examined. The character of dementia was established according to NINCDS-ADRDA and NINDS-AIREN criteria. The neuropsychological battery included Addenbrooke's Cognitive Examination (ACE-R), Montreal Cognitive Assessment scale (MoCA), fluency test and the visual memory test (SCT)...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27617567/tuberous-sclerosis-complex-a-roadmap-for-future-research
#17
COMMENT
Anna Jeong
Investigators from the NINDS and the Tuberous Sclerosis Alliance sponsored a workshop in March 2015, which joined basic scientists and clinicians with expertise in various aspects of Tuberous Sclerosis Complex (TSC), in order to assess the current state of TSC research and to set future goals.
July 2016: Pediatric neurology briefs
https://www.readbyqxmd.com/read/27616152/guillain-barr%C3%A3-syndrome-in-bangladesh-validation-of-brighton-criteria
#18
Mohammad B Islam, Zhahirul Islam, Kaniz S Farzana, Sumit K Sarker, Hubert P Endtz, Quazi D Mohammad, Bart C Jacobs
Guillain-Barré syndrome has a diverse clinical phenotype related to geographical origin. To date, the majority of large-scale studies on Guillain-Barré syndrome (GBS) have been conducted in developed countries. We aimed to evaluate the key diagnostic features and assess the suitability of the Brighton criteria in 344 adult GBS patients from Bangladesh. All patients fulfilled the National Institute of Neurological Diseases and Stroke (NINDS) diagnostic criteria. Standardized data on demographic characteristics and clinical features, cerebrospinal fluid (CSF) analysis, and nerve conduction study (NCS) results were elaborated to measure the sensitivity of Brighton criteria...
December 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27559475/improving-door-to-needle-time-in-patients-for-thrombolysis
#19
Darren Fernandes, Udayaraj Umasankar
Ischaemic stroke can result in approximately 2 million brain neurones being damaged for each minute that it is left untreated. Various trials and studies such as the National Institute of Neurologic Disorders (NINDS) trial, the European Cooperative Acute Stroke Study (ECASS), ECASS II, and the Alteplase Thrombolysis for Acute Noninterventional Therapy in Ischemic Stroke (ATLANTIS) study have clearly demonstrated the beneficial effects of intravenous tissue plasminogen activator (tPA) for treatment of acute stroke...
2016: BMJ Quality Improvement Reports
https://www.readbyqxmd.com/read/27546282/best-practices-for-clinical-and-translational-research-and-practice
#20
Deanna L Kroetz
Scientists in all sectors have been raising concerns in recent years about the lack of reproducibility of biomedical research results. An analysis of in house validation efforts at Bayer HealthCare found that <25% of potential targets could be reproduced in house (1). Similarly, of 53 "landmark" studies selected because they described completely new findings, only 11% could be confirmed in house by Amgen scientists (2). Such dismal numbers has raised concern among scientists in all sectors about the lack of transparency in reporting scientific results and the need to share best laboratory and clinical practices...
August 22, 2016: Clinical and Translational Science
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