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Annals of Clinical and Translational Neurology

Afshin Saffari, Stefan Kölker, Georg F Hoffmann, Markus Weiler, Andreas Ziegler
In recent years, disease-modifying and life-prolonging therapies for spinal muscular atrophy (SMA) have been developed. However, patients are currently diagnosed with significant delay and therapies are often administered in advanced stages of motor neuron degeneration, showing limited effects. Methods to identify children in presymptomatic stages are currently evaluated in newborn screening programs. Yet, not all children develop symptoms shortly after birth raising the question whom to treat and when to initiate therapy...
January 2019: Annals of Clinical and Translational Neurology
Wenbo Zhao, Sijie Li, Changhong Ren, Ran Meng, Kunlin Jin, Xunming Ji
Despite great improvement during the past several decades, the management of stroke is still far from satisfactory, which warrants alternative or adjunctive strategies. Remote ischemic conditioning (RIC), an easy-to-use and noninvasive therapy, can be performed in various clinical scenarios (e.g., prehospital transportation, intrahospital, and at home), and it has been widely investigated for stroke management. RIC has been demonstrated to be well tolerated in patients with acute ischemic stroke and aneurysm subarachnoid hemorrhage, and it may benefit these patients by improving clinical outcomes; in patients with intracranial atherosclerosis, long-term repeated RIC could be safely performed and benefit patients by reducing recurrent ischemic stroke and transient ischemic attack, as well as improving cerebral perfusion status; long-term repeated RIC may also benefit patients with cerebral small vessel disease by slowing cognitive decline and reducing volume of white matter hyperintensities on brain MRI; in patients with severe carotid atherosclerotic stenosis undergoing stenting, preprocedural RIC could reduce the odds of new brain lesions on postprocedural MRI...
January 2019: Annals of Clinical and Translational Neurology
Chris McKinnon, Priti Gros, Darrin J Lee, Clement Hamani, Andres M Lozano, Lorraine V Kalia, Suneil K Kalia
Over the last two decades there has been an exponential rise in the number of patients receiving deep brain stimulation (DBS) to manage debilitating neurological symptoms in conditions such as Parkinson's disease, essential tremor, and dystonia. Novel applications of DBS continue to emerge including treatment of various psychiatric conditions (e.g. obsessive-compulsive disorder, major depression) and cognitive disorders such as Alzheimer's disease. Despite widening therapeutic applications, our understanding of the mechanisms underlying DBS remains limited...
January 2019: Annals of Clinical and Translational Neurology
Richard Wennberg, Catherine Maurice, Peter L Carlen, Luis Garcia Dominguez
A patient with pilomotor seizures post anti-LGI1 limbic encephalitis, refractory to immunotherapy and anti-epileptic drugs, was investigated with electroencephalography and magnetoencephalography. Seizures occurred daily (14.9 ± 4.9/day), with catamenial exacerbation, inducible by hyperventilation. Anterior temporal ictal onsets were heralded (by ~15 sec) by high amplitude ipsilateral electromagnetic infraslow activity. The catamenial/ventilatory sensitivity and the infraslow activity (reflecting glial depolarization) suggested an ionic, CO 2 /pH-related glioneuronal mechanism...
January 2019: Annals of Clinical and Translational Neurology
Anne-Sophie Azzi, Cristina Cosentino, Jésabelle Kibanda, Françoise Féry, Miriam Cnop
Diabetes is a common complication of Friedreich ataxia, requiring sensitive diagnostic methods. Here, we compared the performance of different tests that assess glucose tolerance, insulin sensitivity, and β -cell function in Friedreich ataxia patients, heterozygous FXN mutation carriers and controls. We find that diabetes is underdiagnosed with fasting glucose alone. The oral glucose tolerance test (OGTT) provides 1.2- to 3.5-fold more diagnoses of impaired glucose homeostasis and diabetes, and adequately measures insulin sensitivity, insulin secretion, and β -cell function...
January 2019: Annals of Clinical and Translational Neurology
Maria G Otero, Emmanuelle Tiongson, Frank Diaz, Katrina Haude, Karin Panzer, Ashley Collier, Jaemin Kim, David Adams, Cynthia J Tifft, Hong Cui, Francisca Millian Zamora, Margaret G Au, John M Graham, David J Buckley, Richard Lewis, Camilo Toro, Renkui Bai, Lesley Turner, Katherine D Mathews, William Gahl, Tyler Mark Pierson
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families. We report four subjects with features that include childhood hypotonia, areflexia, ataxia, dysarthria, dystonia, and sensory neuropathy. Exome sequencing in all four subjects identified the same novel COX20 variants. One variant affected the splice donor site of intron-one (c.41A>G), while the other variant (c...
January 2019: Annals of Clinical and Translational Neurology
Ellen C O'Conor, Jiajing Wang, Kyla D Gibney, Xinhua Yu, Garrett R Young, Tamekia Jones, Anne W Alexandrov, Karen C Johnson, William C Cushman, Jack W Tsao
Objective: Traditional neurology teaching states that when mean arterial pressure dips below a 60 mm Hg threshold, there is an increase in stroke risk due to cerebral hypoperfusion. The aim of this study was to determine whether intensive lowering of systolic blood pressure increases adverse cardiovascular outcomes by examining the association between achieved blood pressure values, specifically mean arterial pressure and pulse pressure, and risk of stroke. Methods: Data from participants in the Systolic Blood Pressure Intervention Trial (SPRINT) and the Action to Control Cardiovascular Risk in Diabetes (ACCORD) Blood Pressure (BP) trial were examined, using survival analysis to model minimal arterial pressure and average pulse pressure during the study period against risk of stroke, hypotension, and syncope, with death as a competing risk...
January 2019: Annals of Clinical and Translational Neurology
Maarten D Brem, Bart C Jacobs, Wouter van Rijs, Willem Jan R Fokkink, Anne P Tio-Gillen, Christa Walgaard, Pieter A van Doorn, Hanna IJspeert, Mirjam van der Burg, Ruth Huizinga
Objective: The Guillain-Barré syndrome (GBS) is an acute, immune-mediated disease of peripheral nerves. Plasmablasts and plasma cells play a central role in GBS by producing neurotoxic antibodies. The standard treatment for GBS is high-dose intravenous immunoglobulins (IVIg), however the working mechanism is unknown and the response to treatment is highly variable. We aimed to determine whether IVIg changes the frequency of B-cell subsets in patients with GBS. Methods: Peripheral blood mononuclear cells were isolated from 67 patients with GBS before and/or 1, 2, 4, and 12 weeks after treatment with high-dose IVIg...
January 2019: Annals of Clinical and Translational Neurology
Sung-Chun Tang, Yih-Ru Chen, Nai-Fang Chi, Chih-Hao Chen, Yu-Wen Cheng, Fang-I Hsieh, Yi-Chen Hsieh, Hsu-Ling Yeh, Pi-Shan Sung, Chaur-Jong Hu, Chang-Ming Chern, Huey-Juan Lin, Li-Ming Lien, Giia-Sheun Peng, Hung-Yi Chiou, Jiann-Shing Jeng
Objective: Features of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy ( CADASIL) caused by NOTCH3 mutations vary between ethnicities and regions. In Taiwan, more than 70% of CADASIL patients carry the mutation hot spot of p.R544C. We investigated the prevalence of NOTCH3 p.R544C mutation in stroke patients in Taiwan. Methods: This prospective, multicenter study recruited acute stroke patients within 10 days of symptom onset...
January 2019: Annals of Clinical and Translational Neurology
Melissa L DiBacco, Jean-Baptiste Roullet, Kush Kapur, Madalyn N Brown, Dana C Walters, K Michael Gibson, Phillip L Pearl
Objective: Succinic Semialdehyde Dehydrogenase (SSADH) deficiency is a disorder of elevated gamma-amino butyric acid (GABA) and gamma hydroxybutyric acid (GHB) and a complex neuropsychiatric profile. Adult reports suggest worsening epilepsy and high SUDEP risk. Methods: Subjects with confirmed SSADH deficiency were recruited into a longitudinal study. Plasma thyroid hormone and total GABA/GHB were quantified by standard clinical chemistry methodologies and mass spectrometry, respectively...
January 2019: Annals of Clinical and Translational Neurology
David Arkadir, Alexander Lossos, Dolev Rahat, Muneer Abu Snineh, Ora Schueler-Furman, Silvia Nitschke, Berge A Minassian, Yair Sadaka, Israela Lerer, Yuval Tabach, Vardiella Meiner
Objective: To investigate the genetic basis of the recessive form of primary familial brain calcification and study pathways linking a novel gene with known dominant genes that cause the disease. Methods: Whole exome sequencing and Sanger-based segregation analysis were used to identify possible disease causing mutations. Mutation pathogenicity was validated by structural protein modeling. Functional associations between the candidate gene, MYORG , and genes previously implicated in the disease were examined through phylogenetic profiling...
January 2019: Annals of Clinical and Translational Neurology
Alexander Y Lau, Vincent Mok, Jack Lee, Yuhua Fan, Jinsheng Zeng, Bonnie Lam, Adrian Wong, Chloe Kwok, Maria Lai, Benny Zee
Objective: We investigated whether an automatic retinal image analysis (ARIA) incorporating machine learning approach can identify asymptomatic older adults harboring high burden of white matter hyperintensities (WMH) using MRI as gold standard. Methods: In this cross-sectional study, we evaluated 180 community-dwelling, stroke-, and dementia-free healthy subjects and performed ARIA by acquiring a nonmydriatic retinal fundus image. The primary outcome was the diagnostic performance of ARIA in detecting significant WMH on MRI brain, defined as age-related white matter changes (ARWMC) grade ≥2...
January 2019: Annals of Clinical and Translational Neurology
Julián Benito-León, José Ignacio Serrano, Elan D Louis, Ales Holobar, Juan P Romero, Petra Povalej-Bržan, Jernej Kranjec, Félix Bermejo-Pareja, María Dolores Del Castillo, Ignacio Javier Posada, Eduardo Rocon
Objective: Although the cerebello-thalamo-cortical network has often been suggested to be of importance in the pathogenesis of essential tremor (ET), the origins of tremorgenic activity in this disease are not fully understood. We used a combination of cortical thickness imaging and neurophysiological studies to analyze whether the severity of tremor was associated with anatomical changes in the brain in ET patients . Methods: Magnetic resonance imaging (MRI) and a neurophysiological assessment were performed in 13 nondemented ET patients...
January 2019: Annals of Clinical and Translational Neurology
Catherine R Jutzeler, Femke Streijger, Juan Aguilar, Katelyn Shortt, Neda Manouchehri, Elena Okon, Markus Hupp, Armin Curt, Brian K Kwon, John L K Kramer
Objective: The objective was to track and compare the progression of neuroplastic changes in a large animal model and humans with spinal cord injury. Methods: A total of 37 individuals with acute traumatic spinal cord injury were followed over time (1, 3, 6, and 12 months post-injury) with repeated neurophysiological assessments. Somatosensory and motor evoked potentials were recorded in the upper extremities above the level of injury. In a reverse-translational approach, similar neurophysiological techniques were examined in a porcine model of thoracic spinal cord injury...
January 2019: Annals of Clinical and Translational Neurology
Fu-Chi Yang, Kun-Hsien Chou, Pei-Lin Lee, Jiu-Haw Yin, Shao-Yuan Chen, Hung-Wen Kao, Yueh-Feng Sung, Chung-Hsing Chou, Chia-Kuang Tsai, Chia-Lin Tsai, Ching-Po Lin, Jiunn-Tay Lee
Objectives: Migraine and restless legs syndrome (RLS) are often comorbid and share elements of pathology; however, their neuroanatomical underpinnings are poorly understood. This study aimed to identify patterns of gray matter volume (GMV) alteration specific to and common among patients with RLS, migraine, and comorbid migraine and RLS. Methods: High-resolution T1-weighted images were acquired from 116 subjects: 27 RLS patients, 22 migraine patients, 22 patients with comorbid migraine and RLS, and 45 healthy controls...
January 2019: Annals of Clinical and Translational Neurology
Gido Gravesteijn, Julie W Rutten, Inge M W Verberk, Stefan Böhringer, Michael K Liem, Jeroen van der Grond, Annemieke Aartsma-Rus, Charlotte E Teunissen, Saskia A J Lesnik Oberstein
Objective: To validate whether serum Neurofilament Light-chain (NfL) levels correlate with disease severity in CADASIL, and to determine whether serum NfL predicts disease progression and survival. Methods: Fourty-one (pre-) manifest individuals with CADASIL causing NOTCH3 mutations and 22 healthy controls were recruited from CADASIL families. At baseline, MRI-lesion load and clinical severity was determined and serum was stored. Disease progression was measured in 30/41 patients at 7-year follow-up, and survival of all individuals was determined at 17-year follow-up...
January 2019: Annals of Clinical and Translational Neurology
Pavan Bhargava, Kathryn C Fitzgerald, Swarajya L V Venkata, Matthew D Smith, Michael D Kornberg, Ellen M Mowry, Norman J Haughey, Peter A Calabresi
Objective: Identify metabolic changes produced by dimethyl fumarate (DMF) treatment and link them to immunological effects. Methods: We enrolled 18 MS patients and obtained blood prior to DMF and 6 months postinitiation. We also enrolled 18 healthy controls for comparison. We performed global metabolomics on plasma and used weighted correlation network analysis (WGCNA) to identify modules of correlated metabolites. We identified modules that changed with treatment, followed by targeted metabolomics to corroborate changes identified in global analyses...
January 2019: Annals of Clinical and Translational Neurology
Neal S Parikh, Alexander E Merkler, Arun Jesudian, Hooman Kamel
Objective: Cirrhosis has been associated with nontraumatic subarachnoid hemorrhage (SAH). We sought to evaluate the specific association between cirrhosis and aneurysmal SAH. Methods: We performed a retrospective cohort study using a sample of Medicare claims data from 2008 to 2015. Cirrhosis was defined using a validated ICD-9-CM diagnosis code algorithm. Nontraumatic SAH was identified using a validated approach requiring an inpatient claim for its ICD-9-CM diagnosis code...
January 2019: Annals of Clinical and Translational Neurology
David R Lynch, Jennifer Farmer, Lauren Hauser, Ian A Blair, Qing Qing Wang, Clementina Mesaros, Nathaniel Snyder, Sylvia Boesch, Melanie Chin, Martin B Delatycki, Paola Giunti, Angela Goldsberry, Chad Hoyle, Michael G McBride, Wolfgang Nachbauer, Megan O'Grady, Susan Perlman, S H Subramony, George R Wilmot, Theresa Zesiewicz, Colin Meyer
Objective: Previous studies have demonstrated that suppression of Nrf2 in Friedreich ataxia tissues contributes to excess oxidative stress, mitochondrial dysfunction, and reduced ATP production. Omaveloxolone, an Nrf2 activator and NF-kB suppressor, targets dysfunctional inflammatory, metabolic, and bioenergetic pathways. The dose-ranging portion of this Phase 2 study assessed the safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia patients (NCT02255435)...
January 2019: Annals of Clinical and Translational Neurology
Naomi Nevler, Sharon Ash, David J Irwin, Mark Liberman, Murray Grossman
Objective: To automatically extract and quantify specific disease biomarkers of prosody from the acoustic properties of speech in patients with primary progressive aphasia. Methods: We analyzed speech samples from 59 progressive aphasic patients (non-fluent/agrammatic = 15, semantic = 21, logopenic = 23; ages 50-85 years) and 31 matched healthy controls (ages 54-89 years). Using a novel, automated speech analysis protocol, we extracted acoustic measurements of prosody, including fundamental frequency and speech and silent pause durations, and compared these between groups...
January 2019: Annals of Clinical and Translational Neurology
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