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Annals of Clinical and Translational Neurology

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https://www.readbyqxmd.com/read/28382310/reply-to-is-a-microrna-328-binding-site-in-pax6-associated-with-rolandic-epilepsy
#1
Lisa J Strug, Deb K Pal
No abstract text is available yet for this article.
April 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28382309/is-a-microrna-328-binding-site-in-pax6-associated-with-rolandic-epilepsy
#2
Amelia McGlade, Kenneth A Myers, Samuel F Berkovic, Ingrid E Scheffer, Slavé Petrovski, Michael S Hildebrand
No abstract text is available yet for this article.
April 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28382308/a-novel-mutation-in-kif5a-in-a-malian-family-with-spastic-paraplegia-and-sensory-loss
#3
Cheick O Guinto, Salimata Diarra, Salimata Diallo, Lassana Cissé, Thomas Coulibaly, Seybou H Diallo, Abdoulaye Taméga, Ke-Lian Chen, Alice B Schindler, Koumba Bagayoko, Assiatou Simaga, Craig Blackstone, Kenneth H Fischbeck, Guida Landouré
Hereditary spastic paraplegias (HSPs) are well-characterized disorders but rarely reported in Africa. We evaluated a Malian family in which three individuals had HSP and distal muscle atrophy and sensory loss. HSP panel testing identified a novel heterozygous missense mutation in KIF5A (c.1086G>C, p.Lys362Asn) that segregated with the disease (SPG10). Lys362 is highly conserved across species and Lys362Asn is predicted to be damaging. This study shows that HSPs are present in sub-Saharan Africa, although likely underdiagnosed...
April 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28382307/cadasil-two-new-cases-with-intracerebral-hemorrhage
#4
Chen Zhang, Wei Li, Shaowu Li, Songtao Niu, Xingao Wang, Hefei Tang, Xueying Yu, Bin Chen, Yuzhi Shi, Qihua Chen, Liying Guo, Yunzhu Pan, Yilong Wang, Zaiqiang Zhang
Whether cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a risk factor for spontaneous intracerebral hemorrhage (ICH) and influences outcomes remains unclear. In this study, we report two cases of CADASIL presenting with cerebral hemorrhages. These cases suggest that a CADASIL vasculopathy by itself mainly results in ICH, as indicated by slight vascular risk factors and prominent neuroimaging abnormalities, suggesting that CADASIL should be considered a risk factor for ICH...
April 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28382306/apolipoprotein-e-mimetic-peptide-cn-105-improves-outcomes-in-ischemic-stroke
#5
Tian Ming Tu, Brad J Kolls, Erik J Soderblom, Viviana Cantillana, Paul Durham Ferrell, M Arthur Moseley, Haichen Wang, Hana N Dawson, Daniel T Laskowitz
OBJECTIVE: At present, the absence of a pharmacological neuroprotectant represents an important unmet clinical need in the treatment of ischemic and traumatic brain injury. Recent evidence suggests that administration of apolipoprotein E mimetic therapies represent a viable therapeutic strategy in this setting. We investigate the neuroprotective and anti-inflammatory properties of the apolipoprotein E mimetic pentapeptide, CN-105, in a microglial cell line and murine model of ischemic stroke...
April 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28382305/pmp22-exon-4-deletion-causes-er-retention-of-pmp22-and-a-gain-of-function-allele-in-cmt1e
#6
David S Wang, Xingyao Wu, Yunhong Bai, Craig Zaidman, Tiffany Grider, John Kamholz, James R Lupski, Anne M Connolly, Michael E Shy
OBJECTIVE: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain-of-function mutation associated with peripheral neuropathy in a family with Charcot-Marie-Tooth disease type 1E. METHODS: Two siblings previously reported to have genomic rearrangements predicted to involve exon 4 of PMP22 were evaluated clinically and by electrophysiology. Skin biopsies from the proband were studied by RT-PCR to determine the effects of the exon 4 rearrangements on exon 4 mRNA expression in myelinating Schwann cells...
April 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28382304/tau-oligomers-in-cerebrospinal-fluid-in-alzheimer-s-disease
#7
Urmi Sengupta, Erik Portelius, Oskar Hansson, Kathleen Farmer, Diana Castillo-Carranza, Randall Woltjer, Henrik Zetterberg, Douglas Galasko, Kaj Blennow, Rakez Kayed
OBJECTIVE: With an increasing incidence of Alzheimer's disease (AD) and neurodegenerative tauopathies, there is an urgent need to develop reliable biomarkers for the diagnosis and monitoring of the disease, such as the recently discovered toxic tau oligomers. Here, we aimed to demonstrate the presence of tau oligomers in the cerebrospinal fluid (CSF) of patients with cognitive deficits, and to determine whether tau oligomers could serve as a potential biomarker for AD. METHODS: A multicentric collaborative study involving a double-blinded analysis with a total of 98 subjects with moderate to severe AD (N = 41), mild AD (N = 31), and nondemented control subjects (N = 26), and two pilot studies of 33 total patients with AD (N = 19) and control (N = 14) subjects were performed...
April 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28275655/neural-correlates-of-adaptive-working-memory-training-in-a-glycogen-storage-disease-type-iv-patient
#8
Kristin Lee, Thomas Ernst, Gro Løhaugen, Xin Zhang, Linda Chang
Glycogen storage disease type-IV has varied clinical presentations and subtypes. We evaluated a 38-year-old man with memory complaints, common symptoms in adult polyglucosan body disease subtype, and investigated cognitive and functional MRI changes associated with two 25-sessions of adaptive working memory training. He showed improved trained and nontrained working memory up to 6-months after the training sessions. On functional MRI, he showed increased cortical activation 1-3 months after training, but both increased and decreased activation 6-months later...
March 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28275654/red-hair-mc1r-variants-and-risk-for-parkinson-s-disease-a-meta-analysis
#9
Xiqun Chen, Danielle Feng, Michael A Schwarzschild, Xiang Gao
Several studies have been conducted with mixed results since our initial report of increased Parkinson's disease risk in individuals with red hair and/or red hair-associated p.R151C variant of the MC1R gene, both of which confer high melanoma risk. We performed a meta-analysis of six publications on red hair, MC1R, and Parkinson's disease. We found that red hair (pooled odds ratios = 1.68, 95% confidence intervals: 1.07, 2.64) and p.R151C (pooled odds ratios = 1.10, 95% confidence intervals: 1.00, 1.21), but not p...
March 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28275653/ph20-is-not-expressed-in-murine-cns-and-oligodendrocyte-precursor-cells
#10
Mathieu Marella, Joe Ouyang, Jonathan Zombeck, Chunmei Zhao, Lei Huang, Robert J Connor, Kim B Phan, Michael C Jorge, Marie A Printz, Rudolph D Paladini, Arnold B Gelb, Zhongdong Huang, Gregory I Frost, Barry J Sugarman, Lawrence Steinman, Ge Wei, H Michael Shepard, Daniel C Maneval, Paula J Lapinskas
OBJECTIVE: Expression of Spam1/PH20 and its modulation of high/low molecular weight hyaluronan substrate have been proposed to play an important role in murine oligodendrocyte precursor cell (OPC) maturation in vitro and in normal and demyelinated central nervous system (CNS). We reexamined this using highly purified PH20. METHODS: Steady-state expression of mRNA in OPCs was evaluated by quantitative polymerase chain reaction; the role of PH20 in bovine testicular hyaluronidase (BTH) inhibition of OPC differentiation was explored by comparing BTH to a purified recombinant human PH20 (rHuPH20)...
March 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28275652/altered-sleep-and-eeg-power-in-the-p301s-tau-transgenic-mouse-model
#11
Jerrah K Holth, Thomas E Mahan, Grace O Robinson, Andreia Rocha, David M Holtzman
OBJECTIVE: Sleep disturbances are prevalent in human tauopathies yet despite the importance of sleep, little is known about its relationship with tau pathology. Here, we investigate this interaction by analyzing sleep and tau pathology throughout tauopathy disease progression in P301S human tau transgenic mice. METHODS: P301S and wild-type mice were analyzed by electroencephalography (EEG)/electromyography at 3, 6, 9, and 11 months of age for sleep/wake time, EEG power, and homeostatic response...
March 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28275651/platelet-microparticles-a-biomarker-for-recanalization-in-rtpa-treated-ischemic-stroke-patients
#12
Andrew Bivard, Lisa F Lincz, Jane Maquire, Mark Parsons, Christopher Levi
OBJECTIVES: Identification of a biomarker for acute recanalization could have significant clinical impact. METHODS: We prospectively collected baseline, 24-h, and 90-day clinical and imaging data from consecutive ischemic stroke patients who fulfilled standard clinical eligibility criteria for treatment with intravenous recombinant tissue plasminogen activator (rtPA). Computed tomography angiography was acquired at 24 h and assessed using the thrombolysis is myocardial infarction (TIMI) scale with a score of 2b/3 indicating recanalization...
March 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28275650/optimizing-image-registration-and-infarct-definition-in-stroke-research
#13
George W J Harston, David Minks, Fintan Sheerin, Stephen J Payne, Michael Chappell, Peter Jezzard, Mark Jenkinson, James Kennedy
OBJECTIVE: Accurate representation of final infarct volume is essential for assessing the efficacy of stroke interventions in imaging-based studies. This study defines the impact of image registration methods used at different timepoints following stroke, and the implications for infarct definition in stroke research. METHODS: Patients presenting with acute ischemic stroke were imaged serially using magnetic resonance imaging. Infarct volume was defined manually using four metrics: 24-h b1000 imaging; 1-week and 1-month T2-weighted FLAIR; and automatically using predefined thresholds of ADC at 24 h...
March 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28275649/population-based-analysis-of-pathological-correlates-of-dementia-in-the-oldest-old
#14
Maarit Tanskanen, Mira Mäkelä, Irma-Leena Notkola, Liisa Myllykangas, Sari Rastas, Minna Oinas, Perttu J Lindsberg, Tuomo Polvikoski, Pentti J Tienari, Anders Paetau
OBJECTIVE: The aim of this study was to analyze brain pathologies which cause dementia in the oldest old population. METHODS: All 601 persons aged ≥85 years living in the city of Vantaa (Finland), on April 1st, 1991 formed the study population of the Vantaa85 +  study, 300 of whom were autopsied during follow-up (79.5% females, mean age-at-death 92 ± 3.7 years). Alzheimer's disease (AD) pathology (tau and beta-amyloid [Aβ]), cerebral amyloid angiopathy (CAA) and Lewy-related pathologies were analyzed...
March 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28168214/cerebrospinal-fluid-protein-carbonylation-identifies-oxidative-damage-in-autoimmune-demyelination
#15
David N Irani
Oxidative damage occurs in multiple sclerosis, but is difficult to identify antemortem and remains an unknown contributor to disease progression. Carbonylation is a quantitative measure of protein oxidation. Cerebrospinal fluid samples from multiple sclerosis patients showed elevated carbonylated protein levels compared to controls. In experimental autoimmune encephalomyelitis, carbonylated protein levels in cerebrospinal fluid correlated tightly with those found in inflamed spinal cord tissues. Furthermore, concentrations in cerebrospinal fluid and spinal cord responded in parallel to an antioxidant intervention that also attenuated disease symptoms...
February 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28168213/extended-and-direct-evaluation-of-rt-quic-assays-for-creutzfeldt-jakob-disease-diagnosis
#16
Bradley R Groveman, Christina D Orrú, Andrew G Hughson, Matilde Bongianni, Michele Fiorini, Daniele Imperiale, Anna Ladogana, Maurizio Pocchiari, Gianluigi Zanusso, Byron Caughey
Real-Time Quaking-Induced Conversion (RT-QuIC) testing of human cerebrospinal fluid (CSF) is highly sensitive and specific in discriminating sporadic CJD patients from those without prion disease. Here, using CSF samples from 113 CJD and 64 non-prion disease patients, we provide the first direct and concurrent comparison of our improved RT-QuIC assay to our previous assay, which is similar to those commonly used internationally for CJD diagnosis. This extended comparison demonstrated a ~21% increase in diagnostic sensitivity, a 2-day reduction in average detection time, and 100% specificity...
February 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28168212/novel-synaptobrevin-1-mutation-causes-fatal-congenital-myasthenic-syndrome
#17
Xin-Ming Shen, Rosana H Scola, Paulo J Lorenzoni, Cláudia S K Kay, Lineu C Werneck, Joan Brengman, Duygu Selcen, Andrew G Engel
OBJECTIVE: To identify the molecular basis and elucidate the pathogenesis of a fatal congenital myasthenic syndrome. METHODS: We performed clinical electrophysiology studies, exome and Sanger sequencing, and analyzed functional consequences of the identified mutation. RESULTS: Clinical electrophysiology studies of the patient revealed several-fold potentiation of the evoked muscle action potential by high frequency nerve stimulation pointing to a presynaptic defect...
February 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28168211/dynamic-regimes-of-neocortical-activity-linked-to-corticothalamic-integrity-correlate-with-outcomes-in-acute-anoxic-brain-injury-after-cardiac-arrest
#18
Peter B Forgacs, Hans-Peter Frey, Angela Velazquez, Stephanie Thompson, Daniel Brodie, Vivek Moitra, Leroy Rabani, Soojin Park, Sachin Agarwal, Maria Cristina Falo, Nicholas D Schiff, Jan Claassen
OBJECTIVE: Recognition of potential for neurological recovery in patients who remain comatose after cardiac arrest is challenging and strains clinical decision making. Here, we utilize an approach that is based on physiological principles underlying recovery of consciousness and show correlation with clinical recovery after acute anoxic brain injury. METHODS: A cohort study of 54 patients admitted to an Intensive Care Unit after cardiac arrest who underwent standardized bedside behavioral testing (Coma Recovery Scale - Revised [CRS-R]) during EEG monitoring...
February 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28168210/white-matter-predicts-functional-connectivity-in-premanifest-huntington-s-disease
#19
Peter McColgan, Sarah Gregory, Adeel Razi, Kiran K Seunarine, Fatma Gargouri, Alexandra Durr, Raymund A C Roos, Blair R Leavitt, Rachael I Scahill, Chris A Clark, Sarah J Tabrizi, Geraint Rees, A Coleman, J Decolongon, M Fan, T Petkau, C Jauffret, D Justo, S Lehericy, K Nigaud, R Valabrègue, A Choonderbeek, E P T Hart, D J Hensman Moss, H Crawford, E Johnson, M Papoutsi, C Berna, R Reilmann, N Weber, J Stout, I Labuschagne, B Landwehrmeyer, M Orth, H Johnson
OBJECTIVES: The distribution of pathology in neurodegenerative disease can be predicted by the organizational characteristics of white matter in healthy brains. However, we have very little evidence for the impact these pathological changes have on brain function. Understanding any such link between structure and function is critical for understanding how underlying brain pathology influences the progressive behavioral changes associated with neurodegeneration. Here, we demonstrate such a link between structure and function in individuals with premanifest Huntington's...
February 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28168209/familial-amyloid-polyneuropathy-in-portugal-new-genes-modulating-age-at-onset
#20
Diana Santos, Teresa Coelho, Miguel Alves-Ferreira, Jorge Sequeiros, Denisa Mendonça, Isabel Alonso, Carolina Lemos, Alda Sousa
OBJECTIVES: Familial amyloid polyneuropathy (FAP ATTRV30M) shows a wide variation in age-at-onset (AO) between clusters, families, and among generations. We will now explore some candidate genes involved in altered disease pathways in order to assess their role as genetic modifiers of AO, using a family-centered approach. METHODS: We analyzed 62 tagging SNPs from nine genes-NGAL,MMP-9,BGN,MEK1,MEK2,ERK1,ERK2,HSP27, and YWHAZ - in a sample of 318 V30M Portuguese patients (106 families), currently under follow-up...
February 2017: Annals of Clinical and Translational Neurology
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