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Annals of Clinical and Translational Neurology

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https://www.readbyqxmd.com/read/28589170/immune-and-myodegenerative-pathomechanisms-in-inclusion-body-myositis
#1
REVIEW
Christian W Keller, Jens Schmidt, Jan D Lünemann
Inclusion Body Myositis (IBM) is a relatively common acquired inflammatory myopathy in patients above 50 years of age. Pathological hallmarks of IBM are intramyofiber protein inclusions and endomysial inflammation, indicating that both myodegenerative and inflammatory mechanisms contribute to its pathogenesis. Impaired protein degradation by the autophagic machinery, which regulates innate and adaptive immune responses, in skeletal muscle fibers has recently been identified as a potential key pathomechanism in IBM...
June 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28589169/partial-duplication-of-dhh-causes-minifascicular-neuropathy-a-novel-mutation-detection-of-dhh
#2
Naoko Saito Sato, Risa Maekawa, Hiroyuki Ishiura, Jun Mitsui, Hiroya Naruse, Shin-Ichi Tokushige, Kazuma Sugie, Genshu Tate, Jun Shimizu, Jun Goto, Shoji Tsuji, Yasushi Shiio
Minifascicular neuropathy (MN) is an extremely rare developmental malformation in which peripheral nerves are composed of many small fascicles. Only one patient with MN with 46XY gonadal dysgenesis (GD) was found to carry a mutation affecting the start codon in desert hedgehog (DHH). We identified an identical novel rearrangement mutation of DHH in two consanguineous families with MN, confirming mutations in DHH cause MN with 46XY GD. The patients with the 46XY karyotype developed GD, whereas a patient with the 46XX karyotype did not...
June 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28589168/first-in-man-allopregnanolone-use-in-super-refractory-status-epilepticus
#3
Henrikas Vaitkevicius, Aatif M Husain, Eric S Rosenthal, Jonathan Rosand, Wendell Bobb, Kiran Reddy, Michael A Rogawski, Andrew J Cole
Super-refractory status epilepticus (SRSE) is associated with high morbidity and mortality. Treatment of SRSE is complicated by progressive cortical hyperexcitability believed to result in part from synaptic GABA receptor internalization and desensitization. Allopregnanolone, a neurosteroid that positively modulates synaptic and extrasynaptic GABAA receptors, has been proposed as a novel treatment. We describe the first two patients with SRSE who were each successfully treated with a 120-h continuous infusion of allopregnanolone...
June 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28589167/demyelination-load-as-predictor-for-disease-progression-in-juvenile-metachromatic-leukodystrophy
#4
Manuel Strölin, Ingeborg Krägeloh-Mann, Christiane Kehrer, Marko Wilke, Samuel Groeschel
OBJECTIVE: The aim of this study was to investigate whether the extent and topography of cerebral demyelination correlates with and predicts disease progression in patients with juvenile metachromatic leukodystrophy (MLD). METHODS: A total of 137 MRIs of 46 patients with juvenile MLD were analyzed. Demyelination load and brain volume were quantified using the previously developed Software "clusterize." Clinical data were collected within the German Leukodystrophy Network and included full scale intelligence quotient (FSIQ) and gross motor function data...
June 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28589166/elevated-glutamate-and-lactate-predict-brain-death-after-severe-head-trauma
#5
Marco A Stefani, Rafael Modkovski, Gisele Hansel, Eduardo R Zimmer, Afonso Kopczynski, Alexandre P Muller, Nathan R Strogulski, Marcelo S Rodolphi, Randhall K Carteri, André P Schmidt, Jean P Oses, Douglas H Smith, Luis V Portela
OBJECTIVE: Clinical neurological assessment is challenging for severe traumatic brain injury (TBI) patients in the acute setting. Waves of neurochemical abnormalities that follow TBI may serve as fluid biomarkers of neurological status. We assessed the cerebrospinal fluid (CSF) levels of glutamate, lactate, BDNF, and GDNF, to identify potential prognostic biomarkers of neurological outcome. METHODS: This cross-sectional study was carried out in a total of 20 consecutive patients (mean [SD] age, 29 [13] years; M/F, 9:1) with severe TBI Glasgow Coma Scale ≤ 8 and abnormal computed tomography scan on admission...
June 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28589165/effects-of-fumarates-on-inflammatory-human-astrocyte-responses-and-oligodendrocyte-differentiation
#6
Dylan A Galloway, John B Williams, Craig S Moore
OBJECTIVE: Dimethyl fumarate (DMF) is a fumaric acid ester approved for the treatment of relapsing-remitting multiple sclerosis (RRMS). In both the brain and periphery, DMF and its metabolite monomethyl fumarate (MMF) exert anti-inflammatory and antioxidant effects. Our aim was to compare the effects of DMF and MMF on inflammatory and antioxidant pathways within astrocytes, a critical supporting glial cell in the central nervous system (CNS). Direct effects of fumarates on neural progenitor cell (NPC) differentiation toward the oligodendrocyte lineage were also assessed...
June 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28589164/cns-aquaporin-4-specific-b-cells-connect-with-multiple-b-cell-compartments-in-neuromyelitis-optica-spectrum-disorder
#7
Markus C Kowarik, David Astling, Christiane Gasperi, Scott Wemlinger, Hannah Schumann, Monika Dzieciatkowska, Alanna M Ritchie, Bernhard Hemmer, Gregory P Owens, Jeffrey L Bennett
OBJECTIVES: Neuromyelitis optica spectrum disorder (NMOSD) is a severe inflammatory disorder of the central nervous system (CNS) targeted against aquaporin-4 (AQP4). The origin and trafficking of AQP4-specific B cells in NMOSD remains unknown. METHODS: Peripheral (n = 7) and splenic B cells (n = 1) recovered from seven NMOSD patients were sorted into plasmablasts, naïve, memory, and CD27-IgD- double negative (DN) B cells, and variable heavy chain (VH) transcriptome sequences were generated by deep sequencing...
June 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28589163/a-novel-design-of-a-phase-iii-trial-of-isradipine-in-early-parkinson-disease-steady-pd-iii
#8
Kevin M Biglan, David Oakes, Anthony E Lang, Robert A Hauser, Karen Hodgeman, Brittany Greco, Jillian Lowell, Rebecca Rockhill, Ira Shoulson, Charles Venuto, Diony Young, Tanya Simuni
OBJECTIVE: To describe the rationale for a novel study design and baseline characteristics of a disease-modifying trial of isradipine 10 mg daily in early Parkinson disease (PD). METHODS: STEADY-PDIII is a 36-month, Phase 3, parallel group, placebo-controlled study of the efficacy of isradipine 10 mg daily in 336 participants with early PD as measured by the change in the Unified Parkinson Disease Rating Scale (UPDRS) Part I-III score in the practically defined ON state...
June 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28491904/corrigendum
#9
(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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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