Home > Publications Database > Presymptomatic grey matter alterations in ALS kindreds: a computational neuroimaging study of asymptomatic C9orf72 and SOD1 mutation carriers. > print

001     258909
005     20240311115324.0
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024 7 _ |a 10.1007/s00415-023-11764-5
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024 7 _ |a pmid:37178170
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024 7 _ |a 0367-004x
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024 7 _ |a 0340-5354
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024 7 _ |a 1432-1459
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037 _ _ |a DZNE-2023-00682
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100 1 _ |a Bede, Peter
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245 _ _ |a Presymptomatic grey matter alterations in ALS kindreds: a computational neuroimaging study of asymptomatic C9orf72 and SOD1 mutation carriers.
260 _ _ |a Heidelberg
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520 _ _ |a The 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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650 _ 7 |a C9orf72 Protein
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650 _ 7 |a Amyotrophic lateral sclerosis
|2 Other
650 _ 7 |a Asymptomatic
|2 Other
650 _ 7 |a Biomarker
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650 _ 7 |a C9orf72
|2 Other
650 _ 7 |a Frontotemporal dementia
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650 _ 7 |a Magnetic resonance imaging (MRI)
|2 Other
650 _ 7 |a Pharmaceutical trials
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650 _ 7 |a Presymptomatic
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650 _ 7 |a SOD1
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650 _ 7 |a C9orf72 protein, human
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650 _ 7 |a SOD1 protein, human
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650 _ 7 |a Superoxide Dismutase-1
|0 EC 1.15.1.1
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650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Amyotrophic Lateral Sclerosis: diagnostic imaging
|2 MeSH
650 _ 2 |a Amyotrophic Lateral Sclerosis: genetics
|2 MeSH
650 _ 2 |a Bayes Theorem
|2 MeSH
650 _ 2 |a C9orf72 Protein: genetics
|2 MeSH
650 _ 2 |a Frontotemporal Dementia: genetics
|2 MeSH
650 _ 2 |a Gray Matter: diagnostic imaging
|2 MeSH
650 _ 2 |a Magnetic Resonance Imaging
|2 MeSH
650 _ 2 |a Mutation
|2 MeSH
650 _ 2 |a Neuroimaging
|2 MeSH
650 _ 2 |a Prospective Studies
|2 MeSH
650 _ 2 |a Superoxide Dismutase-1: genetics
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700 1 _ |a Lulé, Dorothée
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700 1 _ |a Müller, Hans-Peter
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700 1 _ |a Tan, Ee Ling
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700 1 _ |a Dorst, Johannes
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700 1 _ |a Ludolph, Albert C
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700 1 _ |a Kassubek, Jan
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773 _ _ |a 10.1007/s00415-023-11764-5
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