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Annals of Neurology

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https://www.readbyqxmd.com/read/28727176/polygenic-risk-score-analysis-of-pathologically-confirmed-alzheimer-s-disease
#1
Valentina Escott-Price, Amanda J Myers, Matt Huentelman, John Hardy
Previous estimates of the utility of polygenic risk score analysis for the prediction of Alzheimer's disease have given Area Under the Curve estimates of <80%. However, these have been based on the genetic analysis of clinical case control series. Here we apply the same analytic approaches to a pathological case control series and show a predictive AUC of 84%. We suggest that this analysis has clinical utility and that there is limited room for further improvement using genetic data. This article is protected by copyright...
July 20, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28719076/multimodal-image-analysis-of-clinical-influences-on-preterm-brain-development
#2
Gareth Ball, Paul Aljabar, Phumza Nongena, Nigel Kennea, Nuria Gonzalez-Cinca, Shona Falconer, Andrew T M Chew, Nicholas Harper, Julia Wurie, Mary A Rutherford, Serena J Counsell, A David Edwards
Objective Premature birth is associated with numerous complex abnormalities of white and grey matter and a high incidence of long-term neurocognitive impairment. An integrated understanding of these abnormalities and their association with clinical events is lacking. The aim of this study was to identify specific patterns of abnormal cerebral development and their antenatal and postnatal antecedents. Methods In a prospective cohort of 449 infants (226 male), we performed a multi-variate and data-driven analysis combining multiple imaging modalities...
July 18, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28719020/fibrin-ogen-and-neurodegeneration-in-the-progressive-multiple-sclerosis-cortex
#3
Richard L Yates, Margaret M Esiri, Jacqueline Palace, Benjamin Jacobs, Rafael Perera, Gabriele C DeLuca
OBJECTIVE: Neuronal loss, a key substrate of irreversible disability in multiple sclerosis (MS), is a recognised feature of MS cortical pathology of which the cause remains unknown. Fibrin(ogen) deposition is neurotoxic in animal models of MS, but has not been evaluated in human progressive MS cortex. The aim of this study was to investigate the extent and distribution of fibrin(ogen) in progressive MS cortex and elucidate its relationship with neurodegeneration. METHODS: A post-mortem cohort of pathologically confirmed MS (n=47) and control (n=10) cases was used...
July 18, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28719018/ante-mortem-csf-tau-levels-correlate-with-post-mortem-tau-pathology-in-ftld
#4
D J Irwin, A Lleó, S X Xie, C T McMillan, D Wolk, E B Lee, V M Van Deerlin, L M Shaw, J Q Trojanowski, M Grossman
OBJECTIVE: To test the hypotheses that 1) antemortem cerebrospinal fluid tau levels correlate with postmortem tau pathology in frontotemporal lobar degeneration and 2) tauopathy patients have higher phosphorylated-tau levels compared to TDP-43 proteinopathy patients while accounting for Alzheimer's disease co-pathology. METHODS: Patients had autopsy-confirmed frontotemporal lobar degeneration with tauopathy (n=31), TDP-43 proteinopathy (n=49), or Alzheimer's disease (n=26) with antemortem cerebrospinal fluid...
July 18, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28696548/brain-microvascular-injury-and-white-matter-disease-provoked-by-diabetes-associated-hyperamylinemia
#5
Han Ly, Nirmal Verma, Fengen Wu, Miao Liu, Kathryn E Saatman, Peter T Nelson, John T Slevin, Larry B Goldstein, Geert Jan Biessels, Florin Despa
OBJECTIVES: The brain blood vessels of patients with type-2 diabetes and dementia have deposition of amylin, an amyloidogenic hormone co-secreted with insulin. It is not known whether vascular amylin deposition is a consequence or a trigger of vascular injury. We tested the hypothesis that the vascular amylin deposits cause endothelial dysfunction and microvascular injury and are modulated by the amylin transport in the brain via plasma apolipoproteins. METHODS: Rats overexpressing amyloidogenic (human) amylin in the pancreas (HIP rats) and amylin knockout (AKO) rats intravenously infused with aggregated amylin were used for in vivo phenotyping...
July 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28696508/neutrophil-extracellular-traps-in-ischemic-stroke-thrombi
#6
Elodie Laridan, Frederik Denorme, Linda Desender, Olivier François, Tommy Andersson, Hans Deckmyn, Karen Vanhoorelbeke, Simon F De Meyer
OBJECTIVE: Neutrophil extracellular traps (NETs) have been shown to promote thrombus formation. Little is known about the exact composition of thrombi that cause ischemic stroke. In particular no information is yet available on the presence of NETs in cerebral occlusions. Such information is however essential to improve current thrombolytic therapy with t-PA. This study aimed at investigating the presence of neutrophils and more specifically NETs in ischemic stroke thrombi. METHODS: Sixty-eight thrombi retrieved from ischemic stroke patients undergoing endovascular treatment were characterized by immunostaining using neutrophil markers (CD66b and neutrophil elastase) and NETs markers (citrullinated histones H3 (H3Cit) and extracellular DNA)...
July 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28681535/microbleeds-in-the-secondary-prevention-of-small-subcortical-strokes-trial-stroke-mortality-and-treatment-interactions
#7
Ashkan Shoamanesh, Lesly A Pearce, Carlos Bazan, Luciana Catanese, Leslie A McClure, Mukul Sharma, Joan Marti-Fabregas, David C Anderson, Carlos S Kase, Robert G Hart, Oscar R Benavente
OBJECTIVE: To characterize cerebral microbleeds (CMBs) in lacunar stroke patients in the Secondary Prevention of Small Subcortical Strokes (SPS3) trial and to assess their relationship with recurrent stroke and death, and response to assigned treatment. METHODS: SPS3 is a randomized, clinical trial conducted between 2003 and 2011. Patients with recent magnetic resonance imaging (MRI)-documented lacunar infarcts were randomly assigned in a factorial design to target levels of systolic blood pressure (130-149mmHg vs <130mmHg; open label) and to antiplatelet treatment (aspirin/clopidogrel vs aspirin/placebo; double-blinded)...
July 6, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28681492/time-dependent-risk-of-seizures-in-critically-ill-patients-on-continuous-electroencephalogram
#8
Aaron F Struck, Gamaleldin Osman, Nishi Rampal, Siddhartha Biswal, Benjamin Legros, Lawrence J Hirsch, M Brandon Westover, Nicolas Gaspard
OBJECTIVE: Find the optimal continuous electroencephalographic (CEEG) monitoring duration for seizure detection in critically ill patients. METHODS: We analyzed prospective data from 665 consecutive CEEGs, including clinical factors and time-to-event emergence of electroencephalographic (EEG) findings over 72 hours. Clinical factors were selected using logistic regression. EEG risk factors were selected a priori. Clinical factors were used for baseline (pre-EEG) risk...
July 6, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28681473/timing-is-everything-where-status-epilepticus-treatment-fails
#9
Chloe E Hill, Alomi O Parikh, Colin Ellis, Jennifer S Myers, Brian Litt
Status epilepticus is an emergency, however prompt treatment of patients with status epilepticus is challenging. Clinical trials, such as the Established Status Epilepticus Treatment Trial (ESETT), compare effectiveness of antiepileptic medications, and rigorous examination of effectiveness of care delivery is similarly warranted. We reviewed the medical literature on observed deviations from guidelines, clinical significance, and initiatives to improve timely treatment. We found pervasive, substantial gaps between recommended and "real world" practice with regard to timing, dosing, and sequence of antiepileptic therapy...
July 6, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28681459/familial-mesial-temporal-lobe-epilepsy-and-the-borderland-of-d%C3%A3-j%C3%A3-vu
#10
Piero Perucca, Douglas E Crompton, Susannah T Bellows, Anne M McIntosh, Tomas Kalincik, Mark R Newton, Frank J E Vajda, Ingrid E Scheffer, Patrick Kwan, Terence J O'Brien, K Meng Tan, Samuel F Berkovic
OBJECTIVE: The cause of mesial temporal lobe epilepsy (MTLE) is often unknown. We ascertained to what extent newly diagnosed nonlesional MTLE actually represents familial MTLE (FMTLE). METHODS: We identified all consecutive patients presenting to the Austin Health First Seizure Clinic with MTLE and normal magnetic resonance imaging (MRI) or MRI evidence of hippocampal sclerosis over a 10-year period. Patients' first-degree relatives and pairwise age- and sex-matched controls underwent a comprehensive epilepsy interview...
July 6, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28681388/matrix-metalloproteinase-9-is-decreased-in-natalizumab-treated-multiple-sclerosis-patients-at-risk-for-progressive-multifocal-leukoencephalopathy
#11
Nicolas Fissolo, Béatrice Pignolet, Clara Matute-Blanch, Juan Carlos Triviño, Berta Miró, Miriam Mota, Santiago Perez-Hoyos, Alex Sanchez, Patrick Vermersch, Aurélie Ruet, Jérôme de Sèze, Pierre Labauge, Sandra Vukusic, Caroline Papeix, Laurent Almoyna, Ayman Tourbah, Pierre Clavelou, Thibault Moreau, Jean Pelletier, Christine Lebrun-Frenay, Xavier Montalban, David Brassat, Manuel Comabella
OBJECTIVE: To identify biomarkers associated with the development of progressive multifocal leukoencephalopathy (PML) in multiple sclerosis (MS) patients treated with natalizumab (NTZ). METHODS: Relapsing-remitting MS patients who developed PML under NTZ therapy (pre-PML) and non-PML NTZ-treated patients (NTZ-ctr) were included in the study. Cryopreserved peripheral blood mononuclear cells and serum samples collected at baseline, at 1- and 2-year treated time points, and during PML were analyzed for gene expression by RNA sequencing and for serum protein levels by Luminex and enzyme-linked immunosorbent assays, respectively...
July 6, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28628946/structural-plasticity-of-the-ventral-stream-and-aphasia-recovery
#12
Emilie T McKinnon, Julius Fridriksson, G Russell Glenn, Jens H Jensen, Joseph A Helpern, Alexandra Basilakos, Christopher Rorden, Andy Y Shih, M Vittoria Spampinato, Leonardo Bonilha
Re-strengthening of the residual language network is likely crucial for speech recovery in post-stroke aphasia. Eight participants with chronic aphasia received intensive speech therapy for three weeks, with standardized naming tests and brain MRIs before and after therapy. Kurtosis-based diffusion tensor tractography was used to measure mean kurtosis (MK) along a segment of the inferior longitudinal fasciculus (ILF). Therapy related reduction in the number of semantic but not phonemic errors was associated with strengthening (renormalization) of ILF MK (r=-0...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28628941/a-novel-cause-of-chronic-viral-meningoencephalitis-cache-valley-virus
#13
Michael R Wilson, Dan Suan, Andrew Duggins, Ryan D Schubert, Lillian M Khan, Hannah A Sample, Kelsey C Zorn, Aline Rodrigues Hoffman, Anna Blick, Meena Shingde, Joseph L DeRisi
OBJECTIVE: Immunodeficient patients are particularly vulnerable to neuroinvasive infections that can be challenging to diagnose. Metagenomic next-generation sequencing can identify unusual or novel microbes and is therefore well suited for investigating the etiology of chronic meningoencephalitis in immunodeficient patients. METHODS: We present the case of a 34 year-old man with X-linked agammaglobulinemia from Australia suffering from three years of meningoencephalitis that defied an etiologic diagnosis despite extensive conventional testing, including a brain biopsy...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28628244/phosphorylated-neurofilament-heavy-chain-a-biomarker-of-survival-for-c9orf72-associated-amyotrophic-lateral-sclerosis
#14
Tania F Gendron, Lillian M Daughrity, Michael G Heckman, Nancy N Diehl, Joanne Wuu, Timothy M Miller, Pau Pastor, John Q Trojanowski, Murray Grossman, James D Berry, William T Hu, Antonia Ratti, Michael Benatar, Vincenzo Silani, Jonathan D Glass, Mary Kay Floeter, Andreas Jeromin, Kevin B Boylan, Leonard Petrucelli
As potential treatments for C9ORF72-associated amyotrophic lateral sclerosis (c9ALS) approach clinical trials, the identification of prognostic biomarkers for c9ALS becomes a priority. We show that levels of phosphorylated neurofilament heavy chain (pNFH) in cerebrospinal fluid (CSF) predict disease status and survival in c9ALS patients, and are largely stable over time. Moreover, c9ALS patients exhibit higher pNFH levels, more rapid disease progression, and shorter survival after disease onset than ALS patients without C9ORF72 expansions...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28628235/expanded-phenotypes-and-outcomes-among-256-lgi1-caspr2-igg-positive-patients
#15
Avi Gadoth, Sean J Pittock, Divyanshu Dubey, Andrew McKeon, Jeff W Britton, John E Schmeling, Aurelia Smith, Amy L Kotsenas, Robert E Watson, Daniel H Lachance, Eoin P Flanagan, Vanda A Lennon, Christopher J Klein
OBJECTIVE: To describe an expanded phenotypic spectrum and longitudinal outcome in 256 LGI1-IgG or CASPR2-IgG seropositive patients. METHODS: Patients were identified through service neural autoantibody evaluation. Ninety-five had longitudinal follow-up (7-456 months; median 35). RESULTS: Among 3,910 patients tested, 196 were LGI1-IgG-positive; 51 were CASPR2-IgG-positive and 9 were dual-positive. CSF-testing was less sensitive than serum-testing, detecting only 24/38 LGI1-IgG-positive (63%) and 5/6 CASPR2-IgG-positive (83%)...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28628231/gene-therapy-decreases-seizures-in-a-model-of-incontinentia-pigmenti
#16
Godwin K Dogbevia, Kathrin Töllner, Jakob Körbelin, Sonja Bröer, Dirk A Ridder, Hanna Grasshoff, Claudia Brandt, Jan Wenzel, Beate K Straub, Martin Trepel, Wolfgang Löscher, Markus Schwaninger
OBJECTIVE: Incontinentia pigmenti (IP) is a genetic disease leading to severe neurological symptoms, such as epileptic seizures, but no specific treatment is available. IP is caused by pathogenic variants that inactivate the Nemo gene. Replacing Nemo through gene therapy might provide therapeutic benefits. METHODS: In a mouse model of IP we administered a single intravenous dose of the AAV vector AAV-BR1-CAG-NEMO delivering the Nemo gene to the brain endothelium...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28598015/cutaneous-nerve-biomarkers-in-transthyretin-familial-amyloid-polyneuropathy
#17
Gigi J Ebenezer, Ying Liu, Daniel P Judge, Kelly Cunningham, Shaun Truelove, Noel D Carter, Blessan Sebastian, Kelly Byrnes, Michael Polydefkis
OBJECTIVE: To determine the utility of skin biopsies as a biomarker of disease severity in subjects with amyloid neuropathy. METHODS: Five groups of patients were studied: (1) transthyretin (TTR) familial amyloidotic polyneuropathy (FAP; n = 20), (2) TTR mutation carriers without peripheral neuropathy (TTR-noPN; n = 10), (3) healthy controls (n = 20), (4) diabetic neuropathy disease controls (n = 20), and (5) patients with light-chain (AL) amyloid (n = 2)...
June 9, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28586147/epileptic-networks-in-action-synchrony-between-distant-hemodynamic-responses
#18
Hui Ming Khoo, Nicolás von Ellenrieder, Natalja Zazubovits, François Dubeau, Jean Gotman
OBJECTIVE: Structural and functional imaging studies in focal epilepsy often reveal distributed regions of abnormality. These are interpreted as representing the existence of epileptic networks but the presence of actual neuronal interactions between these regions has not been demonstrated. We sought to determine if the distributed hemodynamic responses often seen in fMRI studies of scalp interictal epileptic discharges (IEDs) actually correspond to synchronized neuronal activities when examining the intracerebral EEG (iEEG) at distant nodes of the network...
June 6, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28586141/connectivity-predicts-deep-brain-stimulation-outcome-in-parkinson-s-disease
#19
Andreas Horn, Martin Reich, Johannes Vorwerk, Ningfei Li, Gregor Wenzel, Qianqian Fang, Tanja Schmitz-Hübsch, Robert Nickl, Andreas Kupsch, Jens Volkmann, Andrea A Kühn, Michael D Fox
OBJECTIVE: The benefit of deep brain stimulation (DBS) for Parkinson's disease (PD) may depend on connectivity between the stimulation site and other brain regions, but which regions and whether connectivity can predict outcome in patients remains unknown. Here, we identify the structural and functional connectivity profile of effective DBS to the subthalamic nucleus (STN) and test its ability to predict outcome in an independent cohort. METHODS: A training dataset of 51 PD patients with STN DBS was combined with publicly available human connectome data (diffusion tractography and resting state functional connectivity) to identify connections reliably associated with clinical improvement (motor score of Unified Parkinson's Disease Rating Scale)...
June 6, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28574152/serum-igf-i-levels-are-associated-with-improved-white-matter-recovery-after-tbi
#20
Claire Feeney, David J Sharp, Peter J Hellyer, Amy E Jolly, James H Cole, Gregory Scott, David Baxter, Sagar Jilka, Ewan Ross, Timothy E Ham, Peter O Jenkins, Lucia M Li, Nikos Gorgoraptis, Mark Midwinter, Anthony P Goldstone
OBJECTIVE: Traumatic brain injury (TBI) is a common disabling condition with limited treatment options. Diffusion tensor imaging (DTI) measures recovery of axonal injury in white matter (WM) tracts after TBI. Growth hormone deficiency (GHD) after TBI may impair axonal and neuropsychological recovery, and serum IGF-I may mediate this effect. We conducted a longitudinal study to determine the effects of baseline serum IGF-I concentrations on WM tract and neuropsychological recovery after TBI...
June 2, 2017: Annals of Neurology
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