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@ARTICLE{Convery:154317,
author = {Convery, Rhian S and Bocchetta, Martina and Greaves,
Caroline V and Moore, Katrina M and Cash, David M and Van
Swieten, John and Moreno, Fermin and Sánchez-Valle, Raquel
and Borroni, Barbara and Laforce, Robert and Masellis, Mario
and Tartaglia, Maria Carmela and Graff, Caroline and
Galimberti, Daniela and Rowe, James B and Finger, Elizabeth
and Synofzik, Matthis and Vandenberghe, Rik and de Mendonca,
Alexandre and Tagliavini, Fabrizio and Santana, Isabel and
Ducharme, Simon and Butler, Christopher and Gerhard, Alex
and Levin, Johannes and Danek, Adrian and Otto, Markus and
Warren, Jason D and Rohrer, Jonathan D and Rossor, M. N. and
Fox, N. C. and Woollacott, I. O. C. and Shafei, R. and
Heller, C. and Peakman, G. and Swift, I. and Todd, E. and
Guerreiro, R. and Bras, J. and Thomas, D. L. and Nicholas,
J. and Mead, S. and Jiskoot, L. and Meeter, L. and Panman,
J. and Papma, J. and van Minkelen, R. and Pijnenburg, Y. and
Barandiara, M. and Indakoetxea, B. and Gabilondo, A. and
Tainta, M. and de Arriba, M. and Gorostidi, A. and Zulaica,
M. and Villanua, J. and Diaz, Z. and Borrego-Ecija, S. and
Olives, J. and Lladó, A. and Balasa, M. and Antonell, A.
and Bargallo, N. and Premi, E. and Cosseddu, M. and Gazzina,
S. and Padovani, A. and Gasparotti, R. and Archetti, S. and
Black, S. and Mitchell, S. and Rogaeva, E. and Freedman, M.
and Keren, R. and Tang-Wai, D. and Öijerstedt, L. and
Andersson, C. and Jelic, V. and Thonberg, H. and Arighi, A.
and Fenoglio, C. and Scarpini, E. and Fumagalli, G. and
Cope, T. and Timberlake, C. and Rittman, T. and Shoesmith,
C. and Bartha, R. and Rademakers, R. and Wilke, C. and
Karnarth, H-O and Bender, B. and Bruffaerts, R. and
Vandamme, P. and Vandenbulcke, M. and Ferreira, C. B. and
Miltenberger, G. and Maruta, C. and Verdelho, A. and Afonso,
S. and Taipa, R. and Caroppo, P. and Di Fede, G. and
Giaccone, G. and Prioni, S. and Redaelli, V. and Rossi, G.
and Tiraboschi, P. and Duro, D. and Almeida, M. R. and
Branco, M. C. and Leitão, M. J. and Tabuas-Pereira, M. and
Santiago, B. and Gauthier, S. and Rosa-Neto, P. and
Veldsman, M. and Flanagan, T. and Prix, C. and Hoegen, T.
and Wlasich, E. and Loosli, S. and Schonecker, S. and
Semler, E. and Anderl-Straub, S.},
collaboration = {Initiative, Genetic FTD},
title = {{A}bnormal pain perception is associated with
thalamo-cortico-striatal atrophy in {C}9orf72 expansion
carriers in the {GENFI} cohort.},
journal = {Journal of neurology, neurosurgery, and psychiatry},
volume = {91},
number = {12},
issn = {1468-330X},
address = {London},
publisher = {BMJ Publishing Group},
reportid = {DZNE-2021-00171},
pages = {1325 - 1328},
year = {2020},
note = {ISSN 1468-330X not unique: **3 hits**.},
abstract = {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 $29\%$ 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.},
keywords = {Adult / Aged / Asymptomatic Diseases / Atrophy: diagnostic
imaging / Atrophy: genetics / Atrophy: physiopathology /
C9orf72 Protein: genetics / Cerebellum: diagnostic imaging /
Cerebellum: pathology / Cerebral Cortex: diagnostic imaging
/ Cerebral Cortex: pathology / Cohort Studies / Corpus
Striatum: diagnostic imaging / Corpus Striatum: pathology /
DNA Repeat Expansion / Female / Frontotemporal Dementia:
diagnostic imaging / Frontotemporal Dementia: genetics /
Frontotemporal Dementia: physiopathology / Humans / Logistic
Models / Magnetic Resonance Imaging / Male / Middle Aged /
Mutation / Pain Perception / Perceptual Disorders:
diagnostic imaging / Perceptual Disorders: genetics /
Perceptual Disorders: physiopathology / Prefrontal Cortex:
diagnostic imaging / Prefrontal Cortex: pathology /
Progranulins: genetics / Temporal Lobe: diagnostic imaging /
Temporal Lobe: pathology / Thalamus: diagnostic imaging /
Thalamus: pathology / tau Proteins: genetics /
frontotemporal dementia (Other) / pain (Other) / C9orf72
Protein (NLM Chemicals) / C9orf72 protein, human (NLM
Chemicals) / GRN protein, human (NLM Chemicals) / MAPT
protein, human (NLM Chemicals) / Progranulins (NLM
Chemicals) / tau Proteins (NLM Chemicals)},
cin = {AG Gasser / AG Levin / U Clinical Researchers - München},
ddc = {610},
cid = {I:(DE-2719)1210000 / I:(DE-2719)1111016 /
I:(DE-2719)7000003},
pnm = {344 - Clinical and Health Care Research (POF3-344) / 345 -
Population Studies and Genetics (POF3-345)},
pid = {G:(DE-HGF)POF3-344 / G:(DE-HGF)POF3-345},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:32759310},
doi = {10.1136/jnnp-2020-323279},
url = {https://pub.dzne.de/record/154317},
}
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