13 Works

Data from: Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1/2 studies

Basil T. Darras, Claudia A. Chiriboga, Susan T. Iannaccone, Kathryn J. Swoboda, Jacqueline Montes, Laurence Mignon, Shuting Xia, C. Frank Bennett, Kathie M. Bishop, Jeremy M. Shefner, Allison M. Green, Peng Sun, Ishir Bhan, Sarah Gheuens, Eugene Schneider, Wildon Farwell & Darryl C. De Vivo
Objective: Report results of intrathecal nusinersen in children with later-onset spinal muscular atrophy (SMA). Methods: Analyses included children from the phase 1b/2a study (ISIS-396443-CS2; NCT01703988) who first received nusinersen during that study and were eligible to continue treatment in the extension study (ISIS-396443-CS12; NCT02052791). The phase 1b/2a study was a 253-day, ascending dose (3, 6, 9, 12 mg), multiple-dose, open-label, multicenter study that enrolled children with SMA aged 2 to 15 years. The extension study...

Data from: Clinical EEG slowing correlates with delirium severity and predicts poor clinical outcomes

Eyal Y Kimchi, Anudeepthi Neelagiri, Wade Whitt, Avinash Rao Sagi, Sophia L Ryan, Greta Gadbois, Daniël Groothuysen, Michael B Westover & Eyal Kimchi
Objective To determine which findings on routine clinical EEGs correlate with delirium severity across various presentations, and to determine whether EEG findings independently predict important clinical outcomes. Methods We prospectively studied a cohort of non-intubated inpatients undergoing EEG for evaluation of altered mental status. Patients were assessed for delirium within one hour of EEG using the 3-Minute Diagnostic Interview for Confusion Assessment Method (3D-CAM) and 3D-CAM severity score (3D-CAM-S). EEGs were interpreted clinically by neurophysiologists,...

Data from: Cholinergic modulation of hippocampal calcium activity across the sleep-wake cycle

Heng Zhou, Kevin R Neville, Nitsan Goldstein, Shushi Kabu, Naila Kausar, Rong Ye, Thuan Tinh Nguyen, Noah Gelwan, Bradley T Hyman & Stephen N Gomperts
Calcium is a critical second messenger in neurons that contributes to learning and memory, but how the coordination of action potentials of neuronal ensembles with the hippocampal local field potential (LFP) is reflected in dynamic calcium activity remains unclear. Here, we recorded hippocampal calcium activity with endoscopic imaging of the genetically encoded fluorophore GCaMP6 with concomitant LFP in freely behaving mice. Dynamic calcium activity was greater in exploratory behavior and REM sleep than in quiet...

Data from: Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials

Leonard H Van Den Berg, Eric Sorenson, Gary Gronseth, Eric A. Macklin, Jinsy Andrews, Robert H. Baloh, Michael Benatar, James D. Berry, Adriano Chio, Philippe Corcia, Angela Genge, Amelie K. Gubitz, Catherine Lomen-Hoerth, Christopher J. McDermott, Erik P. Pioro, Jeffrey Rosenfeld, Vincenzo Silani, Martin R. Turner, Markus Weber, Benjamin Rix Brooks, Robert G. Miller & Hiroshi Mitsumoto
Objective: To revise the 1999 Airlie House consensus guidelines for the design and implementation of preclinical therapeutic studies and clinical trials in amyotrophic lateral sclerosis (ALS). Methods: A consensus committee comprising 140 key members of the international ALS community (ALS researchers, clinicians, patient representatives, research funding representatives, industry and regulatory agencies) addressed nine areas of need within ALS research: 1. Pre-clinical studies; 2. Biological and phenotypic heterogeneity; 3. Outcome measures; 4. Disease-modifying and symptomatic interventions;...

Data from: 7 Tesla MRI of the ex vivo human brain at 100 micron resolution

Brian L. Edlow, Azma Mareyam, Andreas Horn, Jonathan R. Polimeni, Thomas Witzel, M. Dylan Tisdall, Jean Augustinack, Jason P. Stockmann, Bram R. Diamond, Allison Stevens, Lee S. Tirrell, Rebecca D. Folkerth, Lawrence L. Wald, Bruce Fischl & Andre Van Der Kouwe
We present an ultra-high resolution MRI dataset of an ex vivo human brain specimen. The brain specimen was donated by a 58-year-old woman who had no history of neurological disease and died of non-neurological causes. After fixation in 10% formalin, the specimen was imaged on a 7 Tesla MRI scanner at 100 µm isotropic resolution using a custom-built 31-channel receive array coil. Single-echo multi-flip Fast Low-Angle SHot (FLASH) data were acquired over 100 hours of...

Data from: Telemedicine in neurology: telemedicine work group of the American Academy of Neurology update

Jaime M. Hatcher-Martin, Jamie Lynn Adams, Eric R Anderson, Riley Bove, Tamika M. Burrus, Mahan Chehrenama, Mary Dolan O'Brien, Dawn S. Eliashiv, Deniz Erten-Lyons, Barbara S. Giesser, Lauren Moo, Pushpa Narayanaswami, Marvin A. Rossi, Madhu Soni, Nauman Tariq, Jack W. Tsao, Bert Vargas, Scott Vota, Scott Wessels, Hannah Planalp & Raghav Govindarajan
ABSTRACT Purpose: While there is strong evidence supporting the importance of telemedicine in stroke, its role in other areas of neurology is not as clear. The goal of this review is to provide an overview of evidence-based data regarding the role of teleneurology in the care of patients with neurologic disorders other than stroke. Recent findings: Studies across multiple specialties report noninferiority of evaluations by telemedicine compared with traditional, in-person evaluations in terms of patient...

Implementing standardized provider documentation in a tertiary epilepsy clinic: supplemental material

Felipe J.S. Jones, Jason R. Smith, Neishay Ayub, Susan T. Herman, Jeffrey R. Buchhalter, Brandy E. Fureman, Sydney S. Cash, Daniel B. Hoch & Lidia M.V.R. Moura
Objective: To incorporate standardized documentation into an epilepsy clinic and use these standardized data to compare patients’ perception of epilepsy diagnosis to provider documentation. Methods: Using quality improvement methodology, we implemented interventions to increase documentation of epilepsy diagnosis, seizure frequency and type from 49.8% to 70% of adult non-employee patients seen by six providers over five months of routine clinical care. The main intervention consisted of an interactive SmartPhrase that mirrored a documentation template developed...

Data from: CAG repeat not polyglutamine length determines timing of Huntington’s disease onset

Jong-Min Lee
Variable, glutamine-encoding, CAA interruptions indicate that a property of the uninterrupted HTT CAG repeat sequence, distinct from the length of huntingtin’s polyglutamine segment, dictates the rate at which Huntington’s disease (HD) develops. The timing of onset shows no significant association with HTT cis-eQTLs but is influenced, sometimes in a sex-specific manner, by polymorphic variation at multiple DNA maintenance genes, suggesting that the special onset-determining property of the uninterrupted CAG repeat is a propensity for length...

Data from: Abnormal thalamo-cortical network dynamics in migraine

Yiheng Tu, Zening Fu, Fang Zeng, Nasim Maleki, Lei Lan, Zhengjie Li, Joel Park, Georgia Wilson, Yujie Gao, Mailan Liu, Vince Calhoun, Fanrong Liang & Jian Kong
Objective: To investigate the dynamic functional connectivity of thalamo-cortical networks in interictal migraine patients and whether clinical features are associated with abnormal connectivity. Methods: We investigated dynamic functional network connectivity (dFNC) of the migraine brain in 89 interictal migraine patients and 70 healthy controls. We focused on the temporal properties of thalamocortical connectivity using sliding window cross-correlation, clustering state analysis, and graph-theory methods. Relationships between clinical symptoms and abnormal dFNC were evaluated using a multivariate...

Data from: Alcoholism gender differences in brain responsivity to emotional stimuli

Kayle S Sawyer, Nasim Maleki, Trinity Urban, Marinkovic Ksenija, Karson Steven, Susan Mosher Ruiz, Gordon J Harris & Marlene Oscar-Berman
Men and women may use alcohol to regulate emotions differently, with corresponding differences in neural responses. We explored how the viewing of different types of emotionally salient stimuli impacted brain activity observed through functional magnetic resonance imaging (fMRI) from 42 long-term abstinent alcoholic (25 women) and 46 nonalcoholic (24 women) participants. Analyses revealed blunted brain responsivity in alcoholic compared to nonalcoholic groups, as well as gender differences in those activation patterns. Brain activation in alcoholic...

Data from: Quantification of motor speech impairment and its anatomic basis in primary progressive aphasia

Claire Cordella, Megan Quimby, Alexandra Touroutoglou, Michael Brickhouse, Bradford Clark Dickerson & Jordan R. Green
Objective: To evaluate whether a quantitative speech measure is effective in identifying and monitoring motor speech impairment (MSI) in patients with primary progressive aphasia (PPA), and to investigate the neuroanatomical basis of MSI in PPA. Methods: Sixty-four patients with PPA were evaluated at baseline, with a subset (N=39) evaluated longitudinally. Articulation rate (AR), a quantitative measure derived from spontaneous speech, was measured at each timepoint. MRI was collected at baseline. Differences in baseline AR were...

Data from: Neuropathy with vascular endothelial growth factor receptor tyrosine kinase inhibitors

Bhaskar Roy, Avash Das, Kumar Ashish, Dhrubajyoti Bandyopadhyay, Abhishek Maiti, Sandipan Chakraborty, Martha E. Stone, Lisa Liang Philpotts, Richard J. Nowak & Huned S. Patwa
Objective: To explore the association of peripheral neuropathy with vascular endothelial growth factor receptor tyrosine kinase inhibitors (VEGFR-TKIs) use in cancer patients. Methods: Published data search up to November 2018 reporting peripheral neuropathy in cancer patients treated with VEGFR-TKIs was performed. The primary outcome was presence of peripheral neuropathy at the end of the trial. Random-effects meta-analysis was performed to estimate Relative Risk (RR) of individual treatment. Results: Thirty Randomized Clinical Trials (RCTs) including 12,490...

Genetic overlap and causal inferences between kidney function and cerebrovascular disease

Sandro Marini, Marios Georgakis, Jaeyoon Chung, Jonathan Henry, Martin Dichgans, Jonathan Rosand, Christopher Anderson & Rainer Malik
Objective: Leveraging large-scale genetic data, we aimed to identify shared pathogenic mechanisms and causal relationships between impaired kidney function and cerebrovascular disease phenotypes. Methods: We used summary statistics from genome-wide association studies (GWAS) of kidney function traits (chronic kidney disease (CKD) diagnosis, estimated glomerular filtration rate (eGFR), and Urinary Albumin-to-Creatinine Ratio (UACR)), and of cerebrovascular disease phenotypes: ischemic stroke and its subtypes, intracerebral hemorrhage (ICH), white matter hyperintensities (WMH) on brain MRI. We (i) tested...

Registration Year

  • 2019

Resource Types

  • Dataset


  • Massachusetts General Hospital
  • Columbia University
  • The University of Texas Southwestern Medical Center
  • University of Tennessee Health Science Center
  • Charité
  • Oregon Health & Science University
  • University of Pennsylvania
  • Boston Children's Hospital
  • Stanford University
  • Kantonsspital St. Gallen