journal
MENU ▼
Read by QxMD icon Read
search

Annals of Clinical and Translational Neurology

journal
https://www.readbyqxmd.com/read/28168214/cerebrospinal-fluid-protein-carbonylation-identifies-oxidative-damage-in-autoimmune-demyelination
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28168208/cortical-excitability-correlates-with-seizure-control-and-epilepsy-duration-in-chronic-epilepsy
#7
Adam D Pawley, Fahmida A Chowdhury, Chayanin Tangwiriyasakul, Bryan Ceronie, Robert D C Elwes, Lina Nashef, Mark P Richardson
OBJECTIVE: Cortical excitability differs between treatment responders and nonresponders in new-onset epilepsy. Moreover, during the first 3 years of epilepsy, cortical excitability becomes more abnormal in nonresponders but normalizes in responders. Here, we study chronic active epilepsy, to examine whether cortical excitability continues to evolve over time, in association with epilepsy duration and treatment response. METHODS: We studied 28 normal subjects, 28 patients with moderately controlled epilepsy (≤4 seizures per year) and 40 patients with poorly controlled epilepsy (≥20 or more seizures per year)...
February 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28168207/additive-amelioration-of-als-by-co-targeting-independent-pathogenic-mechanisms
#8
Ashley E Frakes, Lyndsey Braun, Laura Ferraiuolo, Denis C Guttridge, Brian K Kaspar
OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which glia are central mediators of motor neuron (MN) death. Since multiple cell types are involved in disease pathogenesis, the objective of this study was to determine the benefit of co-targeting independent pathogenic mechanisms in a familial ALS mouse model. METHODS: Recently, our laboratory identified that ALS microglia induce MN death in an NF-κB-dependent mechanism. We also demonstrated that a single, post-natal, intravenous injection of adeno-associated viral vector serotype 9 encoding a shRNA against mutant SOD1 is able to traverse the blood-brain barrier of ALS mice and reduce SOD1-expression in astrocytes and MNs...
February 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078317/corrigendum
#9
(no author information available yet)
[This corrects the article DOI: 10.1002/acn3.307.].
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078316/covert-narrative-capacity-mental-life-in-patients-thought-to-lack-consciousness
#10
Lorina Naci, Mackenzie Graham, Adrian M Owen, Charles Weijer
Despite the apparent absence of external signs of consciousness, a significant proportion of behaviorally nonresponsive patients can respond to commands by willfully modulating their brain activity. However, little is known about the mental life of these patients. We discuss a recent innovative approach, which sheds light on the preserved cognitive capacities of these patients, including executive function, theory of mind, and the experience of affective states. This research represents a fundamental shift in our understanding of these patients, and has important implications for both their continued treatment and care...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078315/degenerative-ataxias-challenges-in-clinical-research
#11
REVIEW
Sub H Subramony
The degenerative ataxias are a very heterogeneous group of disorders that include numerous genetic diseases as well as apparently "sporadic" entities. There has been an explosion of discoveries related to genetic defects and related pathomechanisms that has brought us to the threshold of meaningful therapies in some but not all of these diseases. There also continues to be lack of knowledge of the causation of disease in a sizeable proportion of these patients. The overall rarity of ataxias as a whole and certainly of the individual genetic entities together with slow and variable progression and variable prognosis in juxtaposition with a rapid development of possible therapies in the horizon such as gene replacement and gene knock-down strategies places the ataxias in a unique position distinct from other similar neurodegenerative diseases...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078314/onset-of-secondary-progressive-ms-after-long-term-rituximab-therapy-a-case-report
#12
H-Christian von Büdingen, Antje Bischof, Erica L Eggers, Shengzhi Wang, Carolyn J Bevan, Bruce A C Cree, Roland G Henry, Stephen L Hauser
A patient with relapsing multiple sclerosis (RMS) was treated with a standard immunomodulatory therapy, but due to ongoing disease activity was switched to rituximab. Relapses ceased, but secondary progressive MS (SPMS) eventually appeared, associated with new focal spinal cord white matter lesions. Cerebrospinal fluid (CSF) showed persistent oligoclonal bands (OCB) and clonally related B cells in CSF and peripheral blood. The treatment escalation approach failed to prevent evolution to SPMS, raising the question of whether initiation of B-cell depleting therapy at the time of RMS diagnosis should be tested to more effectively address the immune pathology leading to SPMS...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078313/unilobar-surgery-for-symptomatic-epileptic-spasms
#13
Carmen Barba, Roberto Mai, Laura Grisotto, Francesca Gozzo, Simona Pellacani, Laura Tassi, Stefano Francione, Flavio Giordano, Francesco Cardinale, Renzo Guerrini
OBJECTIVE: To assess factors associated with favorable seizure outcome after surgery for symptomatic epileptic spasms and improve knowledge on pathophysiology of this seizure type. METHODS: Inclusion criteria were: (1) age between 6 months and 15 years at surgery; (2) active epileptic spasms; (3) follow-up after surgery >1 year. RESULTS: We retrospectively studied 80 children (aged 1.3 ± 2 years at seizure onset; 5.8 ± 4 years at surgery, 11...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#14
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078311/common-variant-rs356182-near-snca-defines-a-parkinson-s-disease-endophenotype
#15
Christine A Cooper, Nimansha Jain, Michael D Gallagher, Daniel Weintraub, Sharon X Xie, Yosef Berlyand, Alberto J Espay, Joseph Quinn, Karen L Edwards, Thomas Montine, Vivianna M Van Deerlin, John Trojanowski, Cyrus P Zabetian, Alice S Chen-Plotkin
OBJECTIVE: Parkinson's disease (PD) presents clinically with several motor subtypes that exhibit variable treatment response and prognosis. Here, we investigated genetic variants for their potential association with PD motor phenotype and progression. METHODS: We screened 10 SNPs, previously associated with PD risk, for association with tremor-dominant (TD) versus postural-instability gait disorder (PIGD) motor subtypes. SNPs that correlated with the TD/PIGD ratio in a discovery cohort of 251 PD patients were then evaluated in a multi-site replication cohort of 559 PD patients...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28078310/polg2-deficiency-causes-adult-onset-syndromic-sensory-neuropathy-ataxia-and-parkinsonism
#16
Lionel Van Maldergem, Arnaud Besse, Boel De Paepe, Emma L Blakely, Vivek Appadurai, Margaret M Humble, Juliette Piard, Kate Craig, Langping He, Pierre Hella, François-Guillaume Debray, Jean-Jacques Martin, Marion Gaussen, Patrice Laloux, Giovanni Stevanin, Rudy Van Coster, Robert W Taylor, William C Copeland, Eric Mormont, Penelope E Bonnen
OBJECTIVE: Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult-onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable combination with parkinsonism, seizures, cognitive decline, and ophthalmoplegia. We sought to identify the underlying molecular etiology and characterize the mitochondrial pathophysiology of this neurological syndrome...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28097208/muscle-synergies-after-stroke-are-correlated-with-perilesional-high-gamma
#17
Jason Godlove, Tanuj Gulati, Ben Dichter, Edward Chang, Karunesh Ganguly
Movements can be factored into modules termed "muscle synergies". After stroke, abnormal synergies are linked to impaired movements; however, their neural basis is not understood. In a single subject, we examined how electrocorticography signals from the perilesional cortex were associated with synergies. The measured synergies contained a mix of both normal and abnormal patterns and were remarkably similar to those described in past work. Interestingly, we found that both normal and abnormal synergies were correlated with perilesional high gamma...
December 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28097207/upper-arm-and-cardiac-magnetic-resonance-imaging-in-duchenne-muscular-dystrophy
#18
Lasya Gaur, Alexander Hanna, W Patricia Bandettini, Kenneth H Fischbeck, Andrew E Arai, Ami Mankodi
We analyzed quantitative maps of T1 and T2 relaxation times and muscle fat fraction measurements in magnetic resonance imaging of the upper arm skeletal muscles and heart in ambulatory boys with Duchenne muscular dystrophy and age-range-matched healthy volunteer boys. The cardiac-optimized sequences detected fatty infiltration and edema in the upper arm skeletal muscles but not the myocardium in these Duchenne muscular dystrophy boys who had normal ejection fraction. Imaging the heart and skeletal muscle using the same magnetic resonance imaging methods during a single scan may be useful in assessing relative disease status and therapeutic response in clinical trials of Duchenne muscular dystrophy...
December 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28097206/-18-f-av-1451-pet-in-behavioral-variant-frontotemporal-dementia-due-to-mapt-mutation
#19
W Richard Bevan Jones, Thomas E Cope, Luca Passamonti, Tim D Fryer, Young T Hong, Franklin Aigbirhio, Jillian J Kril, Shelley L Forrest, Kieren Allinson, Jonathan P Coles, P Simon Jones, Maria G Spillantini, John R Hodges, John T O'Brien, James B Rowe
The validation of tau radioligands could improve the diagnosis of frontotemporal lobar degeneration and the assessment of disease-modifying therapies. Here, we demonstrate that binding of the tau radioligand [(18)F]AV-1451 was significantly abnormal in both magnitude and distribution in a patient with familial frontotemporal dementia due to a MAPT 10 + 16C>T gene mutation, recapitulating the pattern of neuropathology seen in her father. Given the genetic diagnosis and the non-Alzheimer's pathology, these findings suggest that [(18)F]AV-1451 might be a useful biomarker in primary tauopathies...
December 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28097205/impact-of-tau-and-amyloid-burden-on-glucose-metabolism-in-alzheimer-s-disease
#20
Gérard N Bischof, Frank Jessen, Klaus Fliessbach, Julian Dronse, Jochen Hammes, Bernd Neumaier, Oezguer Onur, Gereon R Fink, Juraj Kukolja, Alexander Drzezga, Thilo van Eimeren
In a multimodal PET imaging approach, we determined the differential contribution of neurofibrillary tangles (measured with [(18)F]AV-1451) and beta-amyloid burden (measured with [(11)C]PiB) on degree of neurodegeneration (i.e., glucose metabolism measured with [(18)F]FDG-PET) in patients with Alzheimer's disease. Across brain regions, we observed an interactive effect of beta-amyloid burden and tau deposition on glucose metabolism which was most pronounced in the parietal lobe. Elevated beta-amyloid burden was associated with a stronger influence of tau accumulation on glucose metabolism...
December 2016: 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"