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000154317 0247_ $$2ISSN$$a2753-0477
000154317 0247_ $$2doi$$a10.1136/jnnp-2020-323279
000154317 0247_ $$2pmid$$apmid:32759310
000154317 0247_ $$2ISSN$$a0022-3050
000154317 0247_ $$2ISSN$$a0266-8637
000154317 0247_ $$2ISSN$$a0368-329X
000154317 0247_ $$2ISSN$$a1468-330X
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000154317 037__ $$aDZNE-2021-00171
000154317 041__ $$aEnglish
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000154317 1001_ $$00000-0002-9477-1812$$aConvery, Rhian S$$b0
000154317 245__ $$aAbnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort.
000154317 260__ $$aLondon$$bBMJ Publishing Group$$c2020
000154317 3367_ $$2DRIVER$$aarticle
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000154317 520__ $$aFrontotemporal 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% 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.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.
000154317 536__ $$0G:(DE-HGF)POF3-344$$a344 - Clinical and Health Care Research (POF3-344)$$cPOF3-344$$fPOF III$$x0
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000154317 650_7 $$2Other$$afrontotemporal dementia
000154317 650_7 $$2Other$$apain
000154317 650_7 $$2NLM Chemicals$$aC9orf72 Protein
000154317 650_7 $$2NLM Chemicals$$aC9orf72 protein, human
000154317 650_7 $$2NLM Chemicals$$aGRN protein, human
000154317 650_7 $$2NLM Chemicals$$aMAPT protein, human
000154317 650_7 $$2NLM Chemicals$$aProgranulins
000154317 650_7 $$2NLM Chemicals$$atau Proteins
000154317 650_2 $$2MeSH$$aAdult
000154317 650_2 $$2MeSH$$aAged
000154317 650_2 $$2MeSH$$aAsymptomatic Diseases
000154317 650_2 $$2MeSH$$aAtrophy: diagnostic imaging
000154317 650_2 $$2MeSH$$aAtrophy: genetics
000154317 650_2 $$2MeSH$$aAtrophy: physiopathology
000154317 650_2 $$2MeSH$$aC9orf72 Protein: genetics
000154317 650_2 $$2MeSH$$aCerebellum: diagnostic imaging
000154317 650_2 $$2MeSH$$aCerebellum: pathology
000154317 650_2 $$2MeSH$$aCerebral Cortex: diagnostic imaging
000154317 650_2 $$2MeSH$$aCerebral Cortex: pathology
000154317 650_2 $$2MeSH$$aCohort Studies
000154317 650_2 $$2MeSH$$aCorpus Striatum: diagnostic imaging
000154317 650_2 $$2MeSH$$aCorpus Striatum: pathology
000154317 650_2 $$2MeSH$$aDNA Repeat Expansion
000154317 650_2 $$2MeSH$$aFemale
000154317 650_2 $$2MeSH$$aFrontotemporal Dementia: diagnostic imaging
000154317 650_2 $$2MeSH$$aFrontotemporal Dementia: genetics
000154317 650_2 $$2MeSH$$aFrontotemporal Dementia: physiopathology
000154317 650_2 $$2MeSH$$aHumans
000154317 650_2 $$2MeSH$$aLogistic Models
000154317 650_2 $$2MeSH$$aMagnetic Resonance Imaging
000154317 650_2 $$2MeSH$$aMale
000154317 650_2 $$2MeSH$$aMiddle Aged
000154317 650_2 $$2MeSH$$aMutation
000154317 650_2 $$2MeSH$$aPain Perception
000154317 650_2 $$2MeSH$$aPerceptual Disorders: diagnostic imaging
000154317 650_2 $$2MeSH$$aPerceptual Disorders: genetics
000154317 650_2 $$2MeSH$$aPerceptual Disorders: physiopathology
000154317 650_2 $$2MeSH$$aPrefrontal Cortex: diagnostic imaging
000154317 650_2 $$2MeSH$$aPrefrontal Cortex: pathology
000154317 650_2 $$2MeSH$$aProgranulins: genetics
000154317 650_2 $$2MeSH$$aTemporal Lobe: diagnostic imaging
000154317 650_2 $$2MeSH$$aTemporal Lobe: pathology
000154317 650_2 $$2MeSH$$aThalamus: diagnostic imaging
000154317 650_2 $$2MeSH$$aThalamus: pathology
000154317 650_2 $$2MeSH$$atau Proteins: genetics
000154317 7001_ $$00000-0003-1814-5024$$aBocchetta, Martina$$b1
000154317 7001_ $$00000-0002-6446-1960$$aGreaves, Caroline V$$b2
000154317 7001_ $$00000-0002-4458-8390$$aMoore, Katrina M$$b3
000154317 7001_ $$aCash, David M$$b4
000154317 7001_ $$00000-0001-6278-6844$$aVan Swieten, John$$b5
000154317 7001_ $$aMoreno, Fermin$$b6
000154317 7001_ $$aSánchez-Valle, Raquel$$b7
000154317 7001_ $$00000-0001-9340-9814$$aBorroni, Barbara$$b8
000154317 7001_ $$aLaforce, Robert$$b9
000154317 7001_ $$aMasellis, Mario$$b10
000154317 7001_ $$aTartaglia, Maria Carmela$$b11
000154317 7001_ $$aGraff, Caroline$$b12
000154317 7001_ $$aGalimberti, Daniela$$b13
000154317 7001_ $$00000-0001-7216-8679$$aRowe, James B$$b14
000154317 7001_ $$00000-0003-4461-7427$$aFinger, Elizabeth$$b15
000154317 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b16$$udzne
000154317 7001_ $$aVandenberghe, Rik$$b17
000154317 7001_ $$ade Mendonca, Alexandre$$b18
000154317 7001_ $$aTagliavini, Fabrizio$$b19
000154317 7001_ $$aSantana, Isabel$$b20
000154317 7001_ $$aDucharme, Simon$$b21
000154317 7001_ $$aButler, Christopher$$b22
000154317 7001_ $$aGerhard, Alex$$b23
000154317 7001_ $$0P:(DE-2719)2811659$$aLevin, Johannes$$b24$$udzne
000154317 7001_ $$0P:(DE-HGF)0$$aDanek, Adrian$$b25
000154317 7001_ $$00000-0002-6647-5944$$aOtto, Markus$$b26
000154317 7001_ $$aWarren, Jason D$$b27
000154317 7001_ $$00000-0002-6155-8417$$aRohrer, Jonathan D$$b28
000154317 7001_ $$aInitiative, Genetic FTD$$b29$$eCollaboration Author
000154317 7001_ $$aRossor, M. N.$$b30
000154317 7001_ $$aFox, N. C.$$b31
000154317 7001_ $$aWoollacott, I. O. C.$$b32
000154317 7001_ $$aShafei, R.$$b33
000154317 7001_ $$aHeller, C.$$b34
000154317 7001_ $$aPeakman, G.$$b35
000154317 7001_ $$aSwift, I.$$b36
000154317 7001_ $$aTodd, E.$$b37
000154317 7001_ $$aGuerreiro, R.$$b38
000154317 7001_ $$aBras, J.$$b39
000154317 7001_ $$aThomas, D. L.$$b40
000154317 7001_ $$aNicholas, J.$$b41
000154317 7001_ $$aMead, S.$$b42
000154317 7001_ $$aJiskoot, L.$$b43
000154317 7001_ $$aMeeter, L.$$b44
000154317 7001_ $$aPanman, J.$$b45
000154317 7001_ $$aPapma, J.$$b46
000154317 7001_ $$avan Minkelen, R.$$b47
000154317 7001_ $$aPijnenburg, Y.$$b48
000154317 7001_ $$aBarandiara, M.$$b49
000154317 7001_ $$aIndakoetxea, B.$$b50
000154317 7001_ $$aGabilondo, A.$$b51
000154317 7001_ $$aTainta, M.$$b52
000154317 7001_ $$ade Arriba, M.$$b53
000154317 7001_ $$aGorostidi, A.$$b54
000154317 7001_ $$aZulaica, M.$$b55
000154317 7001_ $$aVillanua, J.$$b56
000154317 7001_ $$aDiaz, Z.$$b57
000154317 7001_ $$aBorrego-Ecija, S.$$b58
000154317 7001_ $$aOlives, J.$$b59
000154317 7001_ $$aLladó, A.$$b60
000154317 7001_ $$aBalasa, M.$$b61
000154317 7001_ $$aAntonell, A.$$b62
000154317 7001_ $$aBargallo, N.$$b63
000154317 7001_ $$aPremi, E.$$b64
000154317 7001_ $$aCosseddu, M.$$b65
000154317 7001_ $$aGazzina, S.$$b66
000154317 7001_ $$aPadovani, A.$$b67
000154317 7001_ $$aGasparotti, R.$$b68
000154317 7001_ $$aArchetti, S.$$b69
000154317 7001_ $$aBlack, S.$$b70
000154317 7001_ $$aMitchell, S.$$b71
000154317 7001_ $$aRogaeva, E.$$b72
000154317 7001_ $$aFreedman, M.$$b73
000154317 7001_ $$aKeren, R.$$b74
000154317 7001_ $$aTang-Wai, D.$$b75
000154317 7001_ $$aÖijerstedt, L.$$b76
000154317 7001_ $$aAndersson, C.$$b77
000154317 7001_ $$aJelic, V.$$b78
000154317 7001_ $$aThonberg, H.$$b79
000154317 7001_ $$aArighi, A.$$b80
000154317 7001_ $$aFenoglio, C.$$b81
000154317 7001_ $$aScarpini, E.$$b82
000154317 7001_ $$aFumagalli, G.$$b83
000154317 7001_ $$aCope, T.$$b84
000154317 7001_ $$aTimberlake, C.$$b85
000154317 7001_ $$aRittman, T.$$b86
000154317 7001_ $$aShoesmith, C.$$b87
000154317 7001_ $$aBartha, R.$$b88
000154317 7001_ $$aRademakers, R.$$b89
000154317 7001_ $$0P:(DE-HGF)0$$aWilke, C.$$b90
000154317 7001_ $$aKarnarth, H-O$$b91
000154317 7001_ $$aBender, B.$$b92
000154317 7001_ $$aBruffaerts, R.$$b93
000154317 7001_ $$aVandamme, P.$$b94
000154317 7001_ $$aVandenbulcke, M.$$b95
000154317 7001_ $$aFerreira, C. B.$$b96
000154317 7001_ $$aMiltenberger, G.$$b97
000154317 7001_ $$aMaruta, C.$$b98
000154317 7001_ $$aVerdelho, A.$$b99
000154317 7001_ $$aAfonso, S.$$b100
000154317 7001_ $$aTaipa, R.$$b101
000154317 7001_ $$aCaroppo, P.$$b102
000154317 7001_ $$aDi Fede, G.$$b103
000154317 7001_ $$aGiaccone, G.$$b104
000154317 7001_ $$aPrioni, S.$$b105
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000154317 7001_ $$aTabuas-Pereira, M.$$b113
000154317 7001_ $$aSantiago, B.$$b114
000154317 7001_ $$aGauthier, S.$$b115
000154317 7001_ $$aRosa-Neto, P.$$b116
000154317 7001_ $$aVeldsman, M.$$b117
000154317 7001_ $$aFlanagan, T.$$b118
000154317 7001_ $$aPrix, C.$$b119
000154317 7001_ $$aHoegen, T.$$b120
000154317 7001_ $$aWlasich, E.$$b121
000154317 7001_ $$aLoosli, S.$$b122
000154317 7001_ $$aSchonecker, S.$$b123
000154317 7001_ $$aSemler, E.$$b124
000154317 7001_ $$aAnderl-Straub, S.$$b125
000154317 773__ $$0PERI:(DE-600)1480429-3$$a10.1136/jnnp-2020-323279$$gVol. 91, no. 12, p. 1325 - 1328$$n12$$p1325 - 1328$$tJournal of neurology, neurosurgery, and psychiatry$$v91$$x1468-330X$$y2020
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