TY  - JOUR
AU  - Convery, Rhian S
AU  - Bocchetta, Martina
AU  - Greaves, Caroline V
AU  - Moore, Katrina M
AU  - Cash, David M
AU  - Van Swieten, John
AU  - Moreno, Fermin
AU  - Sánchez-Valle, Raquel
AU  - Borroni, Barbara
AU  - Laforce, Robert
AU  - Masellis, Mario
AU  - Tartaglia, Maria Carmela
AU  - Graff, Caroline
AU  - Galimberti, Daniela
AU  - Rowe, James B
AU  - Finger, Elizabeth
AU  - Synofzik, Matthis
AU  - Vandenberghe, Rik
AU  - de Mendonca, Alexandre
AU  - Tagliavini, Fabrizio
AU  - Santana, Isabel
AU  - Ducharme, Simon
AU  - Butler, Christopher
AU  - Gerhard, Alex
AU  - Levin, Johannes
AU  - Danek, Adrian
AU  - Otto, Markus
AU  - Warren, Jason D
AU  - Rohrer, Jonathan D
AU  - Rossor, M. N.
AU  - Fox, N. C.
AU  - Woollacott, I. O. C.
AU  - Shafei, R.
AU  - Heller, C.
AU  - Peakman, G.
AU  - Swift, I.
AU  - Todd, E.
AU  - Guerreiro, R.
AU  - Bras, J.
AU  - Thomas, D. L.
AU  - Nicholas, J.
AU  - Mead, S.
AU  - Jiskoot, L.
AU  - Meeter, L.
AU  - Panman, J.
AU  - Papma, J.
AU  - van Minkelen, R.
AU  - Pijnenburg, Y.
AU  - Barandiara, M.
AU  - Indakoetxea, B.
AU  - Gabilondo, A.
AU  - Tainta, M.
AU  - de Arriba, M.
AU  - Gorostidi, A.
AU  - Zulaica, M.
AU  - Villanua, J.
AU  - Diaz, Z.
AU  - Borrego-Ecija, S.
AU  - Olives, J.
AU  - Lladó, A.
AU  - Balasa, M.
AU  - Antonell, A.
AU  - Bargallo, N.
AU  - Premi, E.
AU  - Cosseddu, M.
AU  - Gazzina, S.
AU  - Padovani, A.
AU  - Gasparotti, R.
AU  - Archetti, S.
AU  - Black, S.
AU  - Mitchell, S.
AU  - Rogaeva, E.
AU  - Freedman, M.
AU  - Keren, R.
AU  - Tang-Wai, D.
AU  - Öijerstedt, L.
AU  - Andersson, C.
AU  - Jelic, V.
AU  - Thonberg, H.
AU  - Arighi, A.
AU  - Fenoglio, C.
AU  - Scarpini, E.
AU  - Fumagalli, G.
AU  - Cope, T.
AU  - Timberlake, C.
AU  - Rittman, T.
AU  - Shoesmith, C.
AU  - Bartha, R.
AU  - Rademakers, R.
AU  - Wilke, C.
AU  - Karnarth, H-O
AU  - Bender, B.
AU  - Bruffaerts, R.
AU  - Vandamme, P.
AU  - Vandenbulcke, M.
AU  - Ferreira, C. B.
AU  - Miltenberger, G.
AU  - Maruta, C.
AU  - Verdelho, A.
AU  - Afonso, S.
AU  - Taipa, R.
AU  - Caroppo, P.
AU  - Di Fede, G.
AU  - Giaccone, G.
AU  - Prioni, S.
AU  - Redaelli, V.
AU  - Rossi, G.
AU  - Tiraboschi, P.
AU  - Duro, D.
AU  - Almeida, M. R.
AU  - Branco, M. C.
AU  - Leitão, M. J.
AU  - Tabuas-Pereira, M.
AU  - Santiago, B.
AU  - Gauthier, S.
AU  - Rosa-Neto, P.
AU  - Veldsman, M.
AU  - Flanagan, T.
AU  - Prix, C.
AU  - Hoegen, T.
AU  - Wlasich, E.
AU  - Loosli, S.
AU  - Schonecker, S.
AU  - Semler, E.
AU  - Anderl-Straub, S.
TI  - Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort.
JO  - Journal of neurology, neurosurgery, and psychiatry
VL  - 91
IS  - 12
SN  - 1468-330X
CY  - London
PB  - BMJ Publishing Group
M1  - DZNE-2021-00171
SP  - 1325 - 1328
PY  - 2020
N1  - ISSN 1468-330X not unique: **3 hits**.
AB  - 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).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.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
KW  - Adult
KW  - Aged
KW  - Asymptomatic Diseases
KW  - Atrophy: diagnostic imaging
KW  - Atrophy: genetics
KW  - Atrophy: physiopathology
KW  - C9orf72 Protein: genetics
KW  - Cerebellum: diagnostic imaging
KW  - Cerebellum: pathology
KW  - Cerebral Cortex: diagnostic imaging
KW  - Cerebral Cortex: pathology
KW  - Cohort Studies
KW  - Corpus Striatum: diagnostic imaging
KW  - Corpus Striatum: pathology
KW  - DNA Repeat Expansion
KW  - Female
KW  - Frontotemporal Dementia: diagnostic imaging
KW  - Frontotemporal Dementia: genetics
KW  - Frontotemporal Dementia: physiopathology
KW  - Humans
KW  - Logistic Models
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Pain Perception
KW  - Perceptual Disorders: diagnostic imaging
KW  - Perceptual Disorders: genetics
KW  - Perceptual Disorders: physiopathology
KW  - Prefrontal Cortex: diagnostic imaging
KW  - Prefrontal Cortex: pathology
KW  - Progranulins: genetics
KW  - Temporal Lobe: diagnostic imaging
KW  - Temporal Lobe: pathology
KW  - Thalamus: diagnostic imaging
KW  - Thalamus: pathology
KW  - tau Proteins: genetics
KW  - frontotemporal dementia (Other)
KW  - pain (Other)
KW  - C9orf72 Protein (NLM Chemicals)
KW  - C9orf72 protein, human (NLM Chemicals)
KW  - GRN protein, human (NLM Chemicals)
KW  - MAPT protein, human (NLM Chemicals)
KW  - Progranulins (NLM Chemicals)
KW  - tau Proteins (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:32759310
DO  - DOI:10.1136/jnnp-2020-323279
UR  - https://pub.dzne.de/record/154317
ER  -