journal
MENU ▼
Read by QxMD icon Read
search

Annals of Clinical and Translational Neurology

journal
https://www.readbyqxmd.com/read/28491904/corrigendum
#1
(no author information available yet)
[This corrects the article DOI: 10.1002/acn3.387.].
May 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28491903/dimethyl-fumarate-alters-b-cell-memory-and-cytokine-production-in-ms-patients
#2
Matthew D Smith, Kyle A Martin, Peter A Calabresi, Pavan Bhargava
We evaluated the effect of dimethyl fumarate (DMF) treatment on B-cell memory and cytokine production in 18 patients with relapsing remitting multiple sclerosis (RRMS) using peripheral blood mononuclear cells obtained prior to and at 6 months post-DMF initiation. We noted a decline in the absolute B-cell number with DMF treatment, with a preferential depletion of memory B cells and a concurrent increase in naïve B cells. We noted significant reductions in GM-CSF, TNF-α, and IL-6 producing B cells with DMF treatment...
May 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28491902/de-novo-reep2-missense-mutation-in-pure-hereditary-spastic-paraplegia
#3
Ricardo H Roda, Alice B Schindler, Craig Blackstone
Alterations in proteins that regulate endoplasmic reticulum morphology are common causes of hereditary spastic paraplegia (SPG1-78, plus others). Mutations in the REEP1 gene that encodes an endoplasmic reticulum-shaping protein are well-known causes of SPG31, a common autosomal dominant spastic paraplegia. A closely-related gene, REEP2, is mutated in SPG72, with both autosomal and recessive inheritances. Here, we report a patient with a pure hereditary spastic paraplegia due to a de novo missense mutation (c...
May 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28491901/predictors-of-clinical-recovery-from-vestibular-neuritis-a-prospective-study
#4
Sian Cousins, Diego Kaski, Nicholas Cutfield, Qadeer Arshad, Hena Ahmad, Michael A Gresty, Barry M Seemungal, John Golding, Adolfo M Bronstein
We sought to identify predictors of symptomatic recovery in vestibular neuritis. Forty VN patients were prospectively studied in the acute phase (median = 2 days) and 32 in the recovery phase (median = 10 weeks) with vestibulo-ocular reflex, vestibular-perceptual, and visual dependence tests and psychological questionnaires. Clinical outcome was Dizziness Handicap Inventory score at recovery phase. Acute visual dependency and autonomic arousal predicted outcome. Worse recovery was associated with a combination of increased visual dependence, autonomic arousal, anxiety/depression, and fear of bodily sensations, but not with vestibular variables...
May 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28491900/screening-of-conventional-anticonvulsants-in-a-genetic-mouse-model-of-epilepsy
#5
Nicole A Hawkins, Lyndsey L Anderson, Tracy S Gertler, Linda Laux, Alfred L George, Jennifer A Kearney
OBJECTIVE: Epilepsy is a common neurological disorder that affects 1% of the population. Approximately, 30% of individuals with epilepsy are refractory to treatment, highlighting the need for novel therapies. Conventional anticonvulsant screening relies predominantly on induced seizure models. However, these models may not be etiologically relevant for genetic epilepsies. Mutations in SCN1A are a common cause of Dravet Syndrome, a severe epileptic encephalopathy. Dravet syndrome typically begins in infancy with seizures provoked by fever and then progresses to include afebrile pleomorphic seizure types...
May 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28491899/diagnostic-and-cost-utility-of-whole-exome-sequencing-in-peripheral-neuropathy
#6
Maie Walsh, Katrina M Bell, Belinda Chong, Emma Creed, Gemma R Brett, Kate Pope, Natalie P Thorne, Simon Sadedin, Peter Georgeson, Dean G Phelan, Timothy Day, Jessica A Taylor, Adrienne Sexton, Paul J Lockhart, Lynette Kiers, Michael Fahey, Ivan Macciocca, Clara L Gaff, Alicia Oshlack, Eppie M Yiu, Paul A James, Zornitza Stark, Monique M Ryan
OBJECTIVE: To explore the diagnostic utility and cost effectiveness of whole exome sequencing (WES) in a cohort of individuals with peripheral neuropathy. METHODS: Singleton WES was performed in individuals recruited though one pediatric and one adult tertiary center between February 2014 and December 2015. Initial analysis was restricted to a virtual panel of 55 genes associated with peripheral neuropathies. Patients with uninformative results underwent expanded analysis of the WES data...
May 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28491898/a-cross-sectional-population-based-investigation-into-behavioral-change-in-amyotrophic-lateral-sclerosis-subphenotypes-staging-cognitive-predictors-and-survival
#7
Tom Burke, Marta Pinto-Grau, Katie Lonergan, Peter Bede, Meabhdh O'Sullivan, Mark Heverin, Alice Vajda, Russell L McLaughlin, Niall Pender, Orla Hardiman
OBJECTIVE: Amyotrophic Lateral Sclerosis (ALS) is a clinically heterogeneous neurodegenerative disorder associated with cognitive and behavioral impairment. The primary aim of this study was to identify behavioral subphenotypes in ALS using a custom designed behavioral assessment tool (Beaumont Behavioural Inventory, BBI). Secondary aims were to (1) investigate the predictive nature of cognitive assessment on behavioral change, (2) report the behavioral profile associated with the C9orf72 expansion, (3) categorize behavioral change through disease staging, and (4) to investigate the relationship between cross-sectional behavioral classification and survival...
May 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28491897/longitudinal-characterization-of-biomarkers-for-spinal-muscular-atrophy
#8
Ulrike Bonati, Štefan Holiga, Nicole Hellbach, Céline Risterucci, Tobias Bergauer, Wakana Tang, Patricia Hafner, Alain Thoeni, Oliver Bieri, Irene Gerlach, Anne Marquet, Omar Khwaja, Fabio Sambataro, Alessandro Bertolino, Juergen Dukart, Arne Fischmann, Dirk Fischer, Christian Czech
OBJECTIVE: Recent advances in understanding Spinal Muscular Atrophy (SMA) etiopathogenesis prompted development of potent intervention strategies and raised need for sensitive outcome measures capable of assessing disease progression and response to treatment. Several biomarkers have been proposed; nevertheless, no general consensus has been reached on the most feasible ones. We observed a wide range of measures over 1 year to assess their ability to monitor the disease status and progression...
May 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28491896/physical-activity-predicts-reduced-plasma-%C3%AE-amyloid-in-the-cardiovascular-health-study
#9
Chelsea M Stillman, Oscar L Lopez, James T Becker, Lewis H Kuller, Pankaj D Mehta, Russell P Tracy, Kirk I Erickson
OBJECTIVE: Higher levels of physical activity (PA) reduce the risk of cognitive impairment, but the underlying mechanisms are unclear. Using longitudinal data from the Cardiovascular Health Study, we examined whether PA predicted plasma Aβ levels and risk for cognitive decline 9-13 years later. METHODS: Linear and logistic regressions (controlling for APOE status, age, gender, body mass index, cardiovascular disease, brain white matter lesions, and cystatin C levels) tested associations between PA, Aβ, and cognitive impairment in a sample of 149 cognitively normal older adults (mean age 83 years)...
May 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28382310/reply-to-is-a-microrna-328-binding-site-in-pax6-associated-with-rolandic-epilepsy
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
journal
journal
48322
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"