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000258909 1001_ $$0P:(DE-HGF)0$$aBede, Peter$$b0
000258909 245__ $$aPresymptomatic grey matter alterations in ALS kindreds: a computational neuroimaging study of asymptomatic C9orf72 and SOD1 mutation carriers.
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000258909 520__ $$aThe characterisation of presymptomatic disease-burden patterns in asymptomatic mutation carriers has a dual academic and clinical relevance. The understanding of disease propagation mechanisms is of considerable conceptual interests, and defining the optimal time of pharmacological intervention is essential for improved clinical trial outcomes.In a prospective, multimodal neuroimaging study, 22 asymptomatic C9orf72 GGGGCC hexanucleotide repeat carriers, 13 asymptomatic subjects with SOD1, and 54 'gene-negative' ALS kindreds were enrolled. Cortical and subcortical grey matter alterations were systematically appraised using volumetric, morphometric, vertex, and cortical thickness analyses. Using a Bayesian approach, the thalamus and amygdala were further parcellated into specific nuclei and the hippocampus was segmented into anatomically defined subfields.Asymptomatic GGGGCC hexanucleotide repeat carriers in C9orf72 exhibited early subcortical changes with the preferential involvement of the pulvinar and mediodorsal regions of the thalamus, as well as the lateral aspect of the hippocampus. Volumetric approaches, morphometric methods, and vertex analyses were anatomically consistent in capturing focal subcortical changes in asymptomatic C9orf72 hexanucleotide repeat expansion carriers. SOD1 mutation carriers did not exhibit significant subcortical grey matter alterations. In our study, none of the two asymptomatic cohorts exhibited cortical grey matter alterations on either cortical thickness or morphometric analyses.The presymptomatic radiological signature of C9orf72 is associated with selective thalamic and focal hippocampal degeneration which may be readily detectable before cortical grey matter changes ensue. Our findings confirm selective subcortical grey matter involvement early in the course of C9orf72-associated neurodegeneration.
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000258909 650_7 $$2NLM Chemicals$$aC9orf72 Protein
000258909 650_7 $$2Other$$aAmyotrophic lateral sclerosis
000258909 650_7 $$2Other$$aAsymptomatic
000258909 650_7 $$2Other$$aBiomarker
000258909 650_7 $$2Other$$aC9orf72
000258909 650_7 $$2Other$$aFrontotemporal dementia
000258909 650_7 $$2Other$$aMagnetic resonance imaging (MRI)
000258909 650_7 $$2Other$$aPharmaceutical trials
000258909 650_7 $$2Other$$aPresymptomatic
000258909 650_7 $$2Other$$aSOD1
000258909 650_7 $$2NLM Chemicals$$aC9orf72 protein, human
000258909 650_7 $$2NLM Chemicals$$aSOD1 protein, human
000258909 650_7 $$0EC 1.15.1.1$$2NLM Chemicals$$aSuperoxide Dismutase-1
000258909 650_2 $$2MeSH$$aHumans
000258909 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: diagnostic imaging
000258909 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: genetics
000258909 650_2 $$2MeSH$$aBayes Theorem
000258909 650_2 $$2MeSH$$aC9orf72 Protein: genetics
000258909 650_2 $$2MeSH$$aFrontotemporal Dementia: genetics
000258909 650_2 $$2MeSH$$aGray Matter: diagnostic imaging
000258909 650_2 $$2MeSH$$aMagnetic Resonance Imaging
000258909 650_2 $$2MeSH$$aMutation
000258909 650_2 $$2MeSH$$aNeuroimaging
000258909 650_2 $$2MeSH$$aProspective Studies
000258909 650_2 $$2MeSH$$aSuperoxide Dismutase-1: genetics
000258909 7001_ $$0P:(DE-HGF)0$$aLulé, Dorothée$$b1
000258909 7001_ $$0P:(DE-HGF)0$$aMüller, Hans-Peter$$b2
000258909 7001_ $$0P:(DE-HGF)0$$aTan, Ee Ling$$b3
000258909 7001_ $$0P:(DE-HGF)0$$aDorst, Johannes$$b4
000258909 7001_ $$0P:(DE-2719)2812633$$aLudolph, Albert C$$b5
000258909 7001_ $$0P:(DE-2719)9001967$$aKassubek, Jan$$b6$$eLast author
000258909 773__ $$0PERI:(DE-600)1421299-7$$a10.1007/s00415-023-11764-5$$n9$$p4235-4247$$tJournal of neurology$$v270$$x0367-004x$$y2023
000258909 8564_ $$uhttps://link.springer.com/article/10.1007/s00415-023-11764-5
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