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Annals of Clinical and Translational Neurology

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https://www.readbyqxmd.com/read/29928661/two-novel-prnp-truncating-mutations-broaden-the-spectrum-of-prion-amyloidosis
#1
Sabina Capellari, Simone Baiardi, Rita Rinaldi, Anna Bartoletti-Stella, Claudio Graziano, Silvia Piras, Giovanna Calandra-Buonaura, Roberto D'Angelo, Camilla Terziotti, Raffaele Lodi, Vincenzo Donadio, Loris Pironi, Pietro Cortelli, Piero Parchi
Truncating mutations in PRNP have been associated with heterogeneous phenotypes ranging from chronic diarrhea and neuropathy to dementia, either rapidly or slowly progressive. We identified novel PRNP stop-codon mutations (p.Y163X, p.Y169X) in two Italian kindreds. Disease typically presented in the third or fourth decade with progressive autonomic failure and diarrhea. Moreover, one proband (p.Y163X) developed late cognitive decline, whereas some of his relatives presented with isolated cognitive and psychiatric symptoms...
June 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29928660/rho-kinase-inhibitors-do-not-expand-hematoma-volume-in-acute-experimental-intracerebral-hemorrhage
#2
Murtaza Akhter, Tom Qin, Paul Fischer, Homa Sadeghian, Hyung Hwan Kim, Michael J Whalen, Joshua N Goldstein, Cenk Ayata
Rho-associated kinase (ROCK) is an emerging target in acute ischemic stroke. Early pre-hospital treatment with ROCK inhibitors may improve their efficacy, but their antithrombotic effects raise safety concerns in hemorrhagic stroke, precluding use prior to neuroimaging. Therefore, we tested whether ROCK inhibition affects the bleeding times, and worsens hematoma volume in a model of intracerebral hemorrhage (ICH) induced by intrastriatal collagenase injection in mice. Tail bleeding time was measured 1 h after treatment with isoform-nonselective inhibitor fasudil, or ROCK2-selective inhibitor KD025, or their vehicles...
June 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29928659/liquid-biopsy-a-new-source-of-candidate-biomarkers-in-amyotrophic-lateral-sclerosis
#3
Maite Mendioroz, Leyre Martínez-Merino, Idoia Blanco-Luquin, Amaya Urdánoz, Miren Roldán, Ivonne Jericó
Noninvasive tests to diagnose and monitor the progression of neurodegenerative disorders have been a challenge for decades. The aim of this study was to explore the feasibility of applying liquid biopsy procedures to patients with a neurodegenerative disease such as amyotrophic lateral sclerosis (ALS). We isolated plasma cell-free DNA (cfDNA) in 20 ALS patients and 20 controls and used cfDNA to identify a novel differentially methylated mark in RHBDF2 gene in ALS patients compared to controls. Our findings support the notion that liquid biopsy may be applied to living patients as a source of potential epigenetic biomarkers for neurodegenerative disorders...
June 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29928658/impact-of-zika-virus-on-adult-human-brain-structure-and-functional-organization
#4
Richard Bido-Medina, Jonathan Wirsich, Minelly Rodríguez, Jairo Oviedo, Isidro Miches, Pamela Bido, Luis Tusen, Peter Stoeter, Sepideh Sadaghiani
Objective: To determine the impact of Zika virus (ZIKV) infection on brain structure and functional organization of severely affected adult patients with neurological complications that extend beyond Guillain-Barré Syndrome (GBS)-like manifestations and include symptoms of the central nervous system (CNS). Methods: In this first case-control neuroimaging study, we obtained structural and functional magnetic resonance images in nine rare adult patients in the subacute phase, and healthy age- and sex-matched controls...
June 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29928657/aging-related-cognitive-changes-associated-with-alzheimer-s-disease-in-down-syndrome
#5
Nicholas C Firth, Carla M Startin, Rosalyn Hithersay, Sarah Hamburg, Peter A Wijeratne, Kin Y Mok, John Hardy, Daniel C Alexander, André Strydom
Objective: Individuals with Down syndrome (DS) have an extremely high genetic risk for Alzheimer's disease (AD), however, the course of cognitive decline associated with progression to dementia is ill-defined. Data-driven methods can estimate long-term trends from cross-sectional data while adjusting for variability in baseline ability, which complicates dementia assessment in those with DS. Methods: We applied an event-based model to cognitive test data and informant-rated questionnaire data from 283 adults with DS (the largest study of cognitive functioning in DS to date) to estimate the sequence of cognitive decline and individuals' disease stage...
June 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29928656/long-term-phase-1-2-intraspinal-stem-cell-transplantation-outcomes-in-als
#6
Stephen A Goutman, Morton B Brown, Jonathan D Glass, Nicholas M Boulis, Karl Johe, Tom Hazel, Merit Cudkowicz, Nazem Atassi, Lawrence Borges, Parag G Patil, Stacey A Sakowski, Eva L Feldman
Objective: Intraspinal human spinal cord-derived neural stem cell (HSSC) transplantation is a potential therapy for amyotrophic lateral sclerosis (ALS); however, previous trials lack controls. This post hoc analysis compared ambulatory limb-onset ALS participants in Phase 1 and 2 (Ph1/2) open-label intraspinal HSSC transplantation studies up to 3 years after transplant to matched participants in Pooled Resource Open-Access ALS Clinical Trials (PRO-ACT) and ceftriaxone datasets to provide required analyses to inform future clinical trial designs...
June 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29928655/cortical-alterations-in-phobic-postural-vertigo-a-multimodal-imaging-approach
#7
Pauline Popp, Peter Zu Eulenburg, Thomas Stephan, Rainer Bögle, Maximilian Habs, Peter Henningsen, Regina Feuerecker, Marianne Dieterich
Objective: Functional dizziness syndromes are among the most common diagnoses made in patients with chronic dizziness, but their underlying neural characteristics are largely unknown. The aim of this neuroimaging study was to analyze the disease-specific brain changes in patients with phobic postural vertigo (PPV). Methods: We measured brain morphology, task response, and functional connectivity in 44 patients with PPV and 44 healthy controls. Results: The analyses revealed a relative structural increase in regions of the prefrontal cortex and the associated thalamic projection zones as well as in the primary motor cortex...
June 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29928654/the-impact-of-rituximab-infusion-protocol-on-the-long-term-outcome-in-anti-musk-myasthenia-gravis
#8
Elena Cortés-Vicente, Ricard Rojas-Garcia, Jordi Díaz-Manera, Luis Querol, Carlos Casasnovas, Antonio Guerrero-Sola, José Luis Muñoz-Blanco, José Eulalio Bárcena-Llona, Celedonio Márquez-Infante, Julio Pardo, Eva María Martínez-Fernández, Mercedes Usón, Pedro Oliva-Nacarino, Teresa Sevilla, Isabel Illa
Objective: To evaluate whether the clinical benefit and relapse rates in anti-muscle-specific kinase (MuSK) myasthenia gravis (MG) differ depending on the protocol of rituximab followed. Methods: This retrospective multicentre study in patients with MuSK MG compared three rituximab protocols in terms of clinical status, relapse, changes in treatment, and adverse side effects. The primary effectiveness endpoint was clinical relapse requiring a further infusion of rituximab...
June 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29928653/navigational-cue-effects-in-alzheimer-s-disease-and-posterior-cortical-atrophy
#9
Keir X X Yong, Ian D McCarthy, Teresa Poole, Tatsuto Suzuki, Biao Yang, Amelia M Carton, Catherine Holloway, Nikolaos Papadosifos, Derrick Boampong, Julia Langham, Catherine F Slattery, Ross W Paterson, Alexander J M Foulkes, Jonathan M Schott, Chris Frost, Nick Tyler, Sebastian J Crutch
Objective: Deficits in spatial navigation are characteristic and disabling features of typical Alzheimer's disease (tAD) and posterior cortical atrophy (PCA). Visual cues have been proposed to mitigate such deficits; however, there is currently little empirical evidence for their use. Methods: The effect of visual cues on visually guided navigation was assessed within a simplified real-world setting in individuals with tAD ( n  = 10), PCA ( n  = 8), and healthy controls ( n  = 12)...
June 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29928652/cardiac-responses-to-viewing-facial-emotion-differentiate-frontotemporal-dementias
#10
Charles R Marshall, Christopher J D Hardy, Micah Allen, Lucy L Russell, Camilla N Clark, Rebecca L Bond, Katrina M Dick, Emilie V Brotherhood, Jonathan D Rohrer, James M Kilner, Jason D Warren
Objective: To establish proof-of-principle for the use of heart rate responses as objective measures of degraded emotional reactivity across the frontotemporal dementia spectrum, and to demonstrate specific relationships between cardiac autonomic responses and anatomical patterns of neurodegeneration. Methods: Thirty-two patients representing all major frontotemporal dementia syndromes and 19 healthy older controls performed an emotion recognition task, viewing dynamic, naturalistic videos of facial emotions while ECG was recorded...
June 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29928651/cognitive-and-functional-connectivity-alterations-in-friedreich-s-ataxia
#11
Sirio Cocozza, Teresa Costabile, Enrico Tedeschi, Filomena Abate, Camilla Russo, Agnese Liguori, Walter Del Vecchio, Francesca Paciello, Mario Quarantelli, Alessandro Filla, Arturo Brunetti, Francesco Saccà
Objective: The aim of this study was to perform the first resting-state functional MRI (RS-fMRI) analysis in Friedreich's ataxia (FRDA) patients to assess possible brain functional connectivity (FC) differences in these patients, and test their correlations with neuropsychological performances. Methods: In total, 24 FRDA patients (M/F: 15/9, mean age 31.3 ± 15.0) and 24 healthy controls (HC; M/F: 15/9, mean age 30.7 ± 15.5) were enrolled in this cross-sectional study...
June 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29928650/the-nrf2-pathway-as-potential-biomarker-for-dimethyl-fumarate-treatment-in-multiple-sclerosis
#12
Anna Hammer, Anne Waschbisch, Kristina Kuhbandner, Antonios Bayas, De-Hyung Lee, Alexander Duscha, Aiden Haghikia, Ralf Gold, Ralf A Linker
Objective: Immunological studies have demonstrated a plethora of beneficial effects of dimethyl fumarate (DMF) on various cell types. However, the cellular and molecular targets are incompletely understood and response markers are scarce. Here, we focus on the relation between nuclear factor (erythroid-derived 2)-like 2 (NRF2) pathway induction under DMF therapy and the composition of the blood immune cell compartment and clinical efficacy in relapsing-remitting multiple sclerosis (MS) patients...
June 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29761129/corrigendum
#13
(no author information available yet)
[This corrects the article DOI: 10.1002/acn3.255.].
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29761128/brain-computer-interfaces-for-post-stroke-motor-rehabilitation-a-meta-analysis
#14
REVIEW
María A Cervera, Surjo R Soekadar, Junichi Ushiba, José Del R Millán, Meigen Liu, Niels Birbaumer, Gangadhar Garipelli
Brain-computer interfaces (BCIs) can provide sensory feedback of ongoing brain oscillations, enabling stroke survivors to modulate their sensorimotor rhythms purposefully. A number of recent clinical studies indicate that repeated use of such BCIs might trigger neurological recovery and hence improvement in motor function. Here, we provide a first meta-analysis evaluating the clinical effectiveness of BCI-based post-stroke motor rehabilitation. Trials were identified using MEDLINE, CENTRAL, PEDro and by inspection of references in several review articles...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29761127/elevated-lgi1-igg-csf-index-predicts-worse-neurological-outcome
#15
Avi Gadoth, Anastasia Zekeridou, Christopher J Klein, Colton J Thoreson, Masoud Majed, Divyanshu Dubey, Eoin P Flanagan, Andrew McKeon, Sarah M Jenkins, Vanda A Lennon, Sean J Pittock
To determine whether CSF leucine-rich glioma-inactivated 1(LGI1)-IgG titer, index or IgG subclass has prognostic significance, we tested serum and CSF specimens collected concomitantly from 39 seropositive patients. LGI1-IgG index was elevated (>1) in 21 patients (54%), suggesting intrathecal synthesis. Patients with worse outcome at last follow-up (modified Rankin Scale >2) had significantly higher index (median 6.57 vs. 0.5, P  = 0.048) compared to those with better outcome. Higher CSF LGI1-IgG4 subclass-specific titer and index correlated with worse outcome ( P  < 0...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29761126/seronegative-antibody-mediated-neurology-after-immune-checkpoint-inhibitors
#16
Robert Wilson, David A Menassa, Alexander J Davies, Sophia Michael, Joanna Hester, Wilhelm Kuker, Graham P Collins, Judith Cossins, David Beeson, Neil Steven, Paul Maddison, Simon Rinaldi, Saiju Jacob, Sarosh R Irani
Checkpoint inhibitor medications have revolutionized oncology practice, but frequently induce immune-related adverse events. During autoimmune neurology practice over 20 months, we prospectively identified four patients with likely antibody-mediated neurological diseases after checkpoint inhibitors: longitudinally extensive transverse myelitis, Guillain-Barré syndrome, and myasthenia gravis. All patients shared three characteristics: symptoms commenced 4 weeks after drug administration, responses to conventional immunotherapies were excellent, and autoantibodies traditionally associated with their syndrome were absent...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29761125/inflammation-is-a-key-risk-factor-for-persistent-seizures-in-neurocysticercosis
#17
Jesica A Herrick, Biswajit Maharathi, Jin Suh Kim, Gerardo G Abundis, Anjali Garg, Isidro Gonzales, Herbert Saavedra, Javier A Bustos, Hector H Garcia, Jeffrey A Loeb
Objective: We conducted a retrospective, case-control study of neurocysticercosis patients to ascertain early markers that identify subjects likely to develop treatment-resistant seizures. Methods: Clinical histories and imaging studies from 38 neurocysticercosis patients who had been followed for 18 months after treatment were evaluated. Both pairwise and multifactorial analyses were conducted to identify factors associated with continued seizures. Results: Eleven of 38 patients continued to have seizures during the follow-up period...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29761124/progranulin-levels-in-blood-in-alzheimer-s-disease-and-mild-cognitive-impairment
#18
Yonatan A Cooper, Daniel Nachun, Deepika Dokuru, Zhongan Yang, Anna M Karydas, Ginette Serrero, Binbin Yue, Adam L Boxer, Bruce L Miller, Giovanni Coppola
Objective: Changes in progranulin ( GRN ) expression have been hypothesized to alter risk for Alzheimer's disease (AD). We investigated the relationship between GRN expression in peripheral blood and clinical diagnosis of AD and mild cognitive impairment (MCI). Methods: Peripheral blood progranulin gene expression was measured, using microarrays from Alzheimer's ( n = 186), MCI ( n = 118), and control ( n = 204) subjects from the University of California San Francisco Memory and Aging Center (UCSF-MAC) and two independent published series (AddNeuroMed and ADNI)...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29761123/zika-virus-and-guillain-barr%C3%A3-syndrome-in-bangladesh
#19
Corine H GeurtsvanKessel, Zhahirul Islam, Md Badrul Islam, Sandra Kamga, Nowshin Papri, David A M C van de Vijver, Chantal Reusken, Ramona Mogling, Astrid P Heikema, Israt Jahan, Florence K Pradel, Rebecca L Pavlicek, Quazi D Mohammad, Marion P G Koopmans, Bart C Jacobs, Hubert P Endtz
Objective: Previous studies have associated Guillain-Barré syndrome (GBS) with Zika virus (ZIKV) outbreaks in South America and Oceania. In Asia, ZIKV is known to circulate widely, but the association with Guillain-Barré syndrome is unclear. We investigated whether endemic ZIKV infection is associated with the development of GBS. Methods: A prospective study was conducted from 2011 to 2015 in Bangladesh. A total of 418 patients and 418 healthy family controls were included in the study...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29761122/bortezomib-treatment-for-severe-refractory-anti-nmda-receptor-encephalitis
#20
Yong-Won Shin, Soon-Tae Lee, Tae-Joon Kim, Jin-Sun Jun, Kon Chu
Objective: To evaluate the therapeutic potential of bortezomib, a proteasome inhibitor that target plasma cells, in order to revive stalled recovery in patients with anti- N -methyl-d-aspartate (NMDA) receptor encephalitis who remain bedridden even after aggressive immunotherapy. Methods: We consecutively enrolled patients with anti-NMDA receptor encephalitis who remained bedridden after first-line immunotherapy (steroids and intravenous immunoglobulin), second-line immunotherapy (rituximab), and tocilizumab treatment, and treated them with subcutaneous bortezomib...
May 2018: Annals of Clinical and Translational Neurology
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