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Tytuł pozycji:

Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort.

Tytuł:
Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort.
Autorzy:
Convery RS; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Bocchetta M; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Greaves CV; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Moore KM; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Cash DM; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Centre for Medical Image Computing, Department of Medical Physics and Biomedical Engineering, University College London, London, UK.
Van Swieten J; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.
Moreno F; Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital Gipuzkoa Building, San Sebastian, Spain.
Sánchez-Valle R; Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona, Barcelona, Spain.
Borroni B; Centre for Ageing Brain and Neurodegenerative Disorders, Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Laforce R Jr; Clinique Interdisciplinaire de Mémoire (CIME), Département des Sciences Neurologiques du CHU de Québec, Laval University, Quebec, Quebec City, Canada.
Masellis M; Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
Tartaglia MC; Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
Graff C; Department of Geriatric Medicine, Karolinska University Hospital-Huddinge, Stockholm, Sweden.
Galimberti D; La Fondazione IRCCS Ospedale Maggiore Policlinico, Milano, Italy.; Centro Dino Ferrari, University of Milan, Milano, Italy.
Rowe JB; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Finger E; Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.
Synofzik M; Hertie-Institute for Clinical Brain Research and Center of Neurology, Department of Neurodegenerative Diseases, University of Tübingen, Tübingen, Germany.; German Centre for Neurodegenerative Diseases, Tübingen, Germany.
Vandenberghe R; Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium.; Leuven Brain Institute, KU Leuven, Leuven, Belgium.
de Mendonca A; Laboratory of Neurosciences, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisboa, Portugal.
Tagliavini F; Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Istituto Neurologico Carlo Besta, Milano, Italy.
Santana I; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Centre of Neurosciences and Cell Biology, University of Coimbra, Coimbra, Portugal.
Ducharme S; Department of Psychiatry, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.; McConnell Brain Imaging Centre, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
Butler C; Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
Gerhard A; Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, The University of Manchester, Manchester, UK.; Departments of Geriatric Medicine and Nuclear Medicine, University of Duisburg-Essen, Duisburg, Germany.
Levin J; German Centre for Neurodegenerative Diseases Site Munich, Munchen, Germany.; Neurologische Klinik, Ludwig-Maximilians-Universitat Munchen, Munchen, Germany.
Danek A; Neurologische Klinik, Ludwig-Maximilians-Universitat Munchen, Munchen, Germany.
Otto M; Department of Neurology, University of Ulm, Ulm, Germany.
Warren JD; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Rohrer JD; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK .
Corporate Authors:
Genetic FTD Initiative (GENFI)
Źródło:
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2020 Dec; Vol. 91 (12), pp. 1325-1328. Date of Electronic Publication: 2020 Aug 05.
Typ publikacji:
Journal Article
Język:
English
Imprint Name(s):
Publication: London : BMJ Publishing Group
Original Publication: London : British Medical Association
MeSH Terms:
Pain Perception*
C9orf72 Protein/*genetics
Cerebral Cortex/*diagnostic imaging
Corpus Striatum/*diagnostic imaging
Frontotemporal Dementia/*physiopathology
Perceptual Disorders/*physiopathology
Thalamus/*diagnostic imaging
Adult ; Aged ; Asymptomatic Diseases ; Atrophy/diagnostic imaging ; Atrophy/genetics ; Atrophy/physiopathology ; Cerebellum/diagnostic imaging ; Cerebellum/pathology ; Cerebral Cortex/pathology ; Cohort Studies ; Corpus Striatum/pathology ; DNA Repeat Expansion ; Female ; Frontotemporal Dementia/diagnostic imaging ; Frontotemporal Dementia/genetics ; Humans ; Logistic Models ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Mutation ; Perceptual Disorders/diagnostic imaging ; Perceptual Disorders/genetics ; Prefrontal Cortex/diagnostic imaging ; Prefrontal Cortex/pathology ; Progranulins/genetics ; Temporal Lobe/diagnostic imaging ; Temporal Lobe/pathology ; Thalamus/pathology ; tau Proteins/genetics
Grant Information:
MR/K010395/1 United Kingdom MRC_ Medical Research Council; MR/M008525/1 United Kingdom MRC_ Medical Research Council; MR/M023664/1 United Kingdom MRC_ Medical Research Council
Contributed Indexing:
Investigator: MN Rossor; NC Fox; IOC Woollacott; R Shafei; C Heller; G Peakman; I Swift; E Todd; R Guerreiro; J Bras; DL Thomas; J Nicholas; S Mead; L Jiskoot; L Meeter; J Panman; J Papma; R van Minkelen; Y Pijnenburg; M Barandiara; B Indakoetxea; A Gabilondo; M Tainta; M de Arriba; A Gorostidi; M Zulaica; J Villanua; Z Diaz; S Borrego-Ecija; J Olives; A Lladó; M Balasa; A Antonell; N Bargallo; E Premi; M Cosseddu; S Gazzina; A Padovani; R Gasparotti; S Archetti; S Black; S Mitchell; E Rogaeva; M Freedman; R Keren; D Tang-Wai; L Öijerstedt; C Andersson; V Jelic; H Thonberg; A Arighi; C Fenoglio; E Scarpini; G Fumagalli; T Cope; C Timberlake; T Rittman; C Shoesmith; R Bartha; R Rademakers; C Wilke; HO Karnarth; B Bender; R Bruffaerts; P Vandamme; M Vandenbulcke; CB Ferreira; G Miltenberger; C Maruta; A Verdelho; S Afonso; R Taipa; P Caroppo; G Di Fede; G Giaccone; S Prioni; V Redaelli; G Rossi; P Tiraboschi; D Duro; MR Almeida; MC Branco; MJ Leitão; M Tabuas-Pereira; B Santiago; S Gauthier; P Rosa-Neto; M Veldsman; T Flanagan; C Prix; T Hoegen; E Wlasich; S Loosli; S Schonecker; E Semler; S Anderl-Straub
Keywords: frontotemporal dementia; pain
Substance Nomenclature:
0 (C9orf72 Protein)
0 (C9orf72 protein, human)
0 (GRN protein, human)
0 (MAPT protein, human)
0 (Progranulins)
0 (tau Proteins)
Entry Date(s):
Date Created: 20200808 Date Completed: 20210322 Latest Revision: 20210322
Update Code:
20240105
DOI:
10.1136/jnnp-2020-323279
PMID:
32759310
Czasopismo naukowe
Objective: Frontotemporal dementia (FTD) is typically associated with changes in behaviour, language and movement. However, recent studies have shown that patients can also develop an abnormal response to pain, either heightened or diminished. We aimed to investigate this symptom in mutation carriers within the Genetic FTD Initiative (GENFI).
Methods: Abnormal responsiveness to pain was measured in 462 GENFI participants: 281 mutation carriers and 181 mutation-negative controls. Changes in responsiveness to pain were scored as absent (0), questionable or very mild (0.5), mild (1), moderate (2) or severe (3). Mutation carriers were classified into C9orf72 (104), GRN (128) and MAPT (49) groups, and into presymptomatic and symptomatic stages. An ordinal logistic regression model was used to compare groups, adjusting for age and sex. Voxel-based morphometry was performed to identify neuroanatomical correlates of abnormal pain perception.
Results: Altered responsiveness to pain was present to a significantly greater extent in symptomatic C9orf72 expansion carriers than in controls: mean score 0.40 (SD 0.71) vs 0.00 (0.04), reported in 29% vs 1%. No significant differences were seen between the other symptomatic groups and controls, or any of the presymptomatic mutation carriers and controls. Neural correlates of altered pain perception in C9orf72 expansion carriers were the bilateral thalamus and striatum as well as a predominantly right-sided network of regions involving the orbitofrontal cortex, inferomedial temporal lobe and cerebellum.
Conclusion: Changes in pain perception are a feature of C9orf72 expansion carriers, likely representing a disruption in somatosensory, homeostatic and semantic processing, underpinned by atrophy in a thalamo-cortico-striatal network.
Competing Interests: Competing interests: None declared.
(© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

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