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Dipeptide repeat protein and TDP-43 pathology along the hypothalamic-pituitary axis in C9orf72 and non-C9orf72 ALS and FTLD-TDP cases.

作者信息

Dedeene Lieselot, Van Schoor Evelien, Ospitalieri Simona, Ronisz Alicja, Weishaupt Jochen H, Otto Markus, Ludolph Albert C, Scheuerle Angelika, Vandenberghe Rik, Van Damme Philip, Poesen Koen, Thal Dietmar Rudolf

机构信息

Laboratory for Molecular Neurobiomarker Research, Department of Neurosciences, Leuven Brain Institute (LBI), KU Leuven (University of Leuven), Leuven, Belgium.

Laboratory for Neuropathology, Department of Imaging and Pathology, Leuven Brain Institute (LBI), KU Leuven (University of Leuven), O&N IV Herestraat 49-Bus 1032, 3000, Leuven, Belgium.

出版信息

Acta Neuropathol. 2020 Nov;140(5):777-781. doi: 10.1007/s00401-020-02216-9. Epub 2020 Aug 30.

DOI:10.1007/s00401-020-02216-9
PMID:32862270
Abstract
摘要

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Dipeptide repeat protein and TDP-43 pathology along the hypothalamic-pituitary axis in C9orf72 and non-C9orf72 ALS and FTLD-TDP cases.在携带C9orf72突变和非C9orf72突变的肌萎缩侧索硬化症（ALS）及额颞叶痴呆-43型蛋白（FTLD-TDP）病例中，二肽重复蛋白及下丘脑-垂体轴沿线的TDP-43病理学特征
Acta Neuropathol. 2020 Nov;140(5):777-781. doi: 10.1007/s00401-020-02216-9. Epub 2020 Aug 30.
2
Circadian sleep/wake-associated cells show dipeptide repeat protein aggregates in C9orf72-related ALS and FTLD cases.节律性睡眠/觉醒相关细胞在 C9orf72 相关 ALS 和 FTLD 病例中显示二肽重复蛋白聚集物。
Acta Neuropathol Commun. 2019 Dec 2;7(1):189. doi: 10.1186/s40478-019-0845-9.
3
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.C9ORF72 六核苷酸重复扩增相关的 c9FTD/ALS 的临床和神经病理学异质性。
Acta Neuropathol. 2011 Dec;122(6):673-90. doi: 10.1007/s00401-011-0907-y. Epub 2011 Nov 15.
4
Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.C9ORF72六核苷酸重复扩增患者脑和脊髓内含物（包括二肽重复蛋白）的患病率：一项系统性神经病理学综述
Neuropathol Appl Neurobiol. 2016 Oct;42(6):547-60. doi: 10.1111/nan.12284.
5
Molecular Mechanisms of Neurodegeneration Related to Hexanucleotide Repeat Expansion.与六核苷酸重复序列扩增相关的神经退行性变的分子机制
Behav Neurol. 2019 Jan 15;2019:2909168. doi: 10.1155/2019/2909168. eCollection 2019.
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Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.二肽重复蛋白包涵体在脊髓中很少见，在 C9ORF72 突变型肌萎缩侧索硬化症的运动神经元中几乎不存在，不太可能导致其变性。
Acta Neuropathol Commun. 2015 Jun 25;3:38. doi: 10.1186/s40478-015-0218-y.
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Clinical and neuropathological features of ALS/FTD with TIA1 mutations.伴有 TIA1 突变的肌萎缩侧索硬化症/额颞叶痴呆的临床和神经病理学特征。
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Pathogenic Mechanisms and Therapy Development for C9orf72 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia.C9orf72 肌萎缩侧索硬化症/额颞叶痴呆的发病机制和治疗进展。
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Drosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion cases.在额颞叶痴呆-嗜银颗粒蛋白前体（FTLD-TDP）和C9orf72基因扩增的肌萎缩侧索硬化症（ALS）病例中，Drosha包涵体是二肽重复蛋白聚集体的新成分。
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Co-Aggregation of TDP-43 with Other Pathogenic Proteins and Their Co-Pathologies in Neurodegenerative Diseases.TDP-43 与其他致病蛋白的共聚集及其在神经退行性疾病中的共病理学。
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Regulated cell death and its role in Alzheimer's disease and amyotrophic lateral sclerosis.

本文引用的文献

1
Neuroendocrine Disturbances in Neurodegenerative Disorders: A Scoping Review.神经退行性疾病中的神经内分泌紊乱：范围综述。
Psychosomatics. 2020 Mar-Apr;61(2):105-115. doi: 10.1016/j.psym.2019.11.002. Epub 2019 Nov 15.
2
Circadian sleep/wake-associated cells show dipeptide repeat protein aggregates in C9orf72-related ALS and FTLD cases.节律性睡眠/觉醒相关细胞在 C9orf72 相关 ALS 和 FTLD 病例中显示二肽重复蛋白聚集物。
Acta Neuropathol Commun. 2019 Dec 2;7(1):189. doi: 10.1186/s40478-019-0845-9.
3
C9orf72-specific phenomena associated with frontotemporal dementia and gastrointestinal symptoms in the absence of TDP-43 aggregation.
调控细胞死亡及其在阿尔茨海默病和肌萎缩性侧索硬化症中的作用。
Acta Neuropathol. 2024 Apr 7;147(1):69. doi: 10.1007/s00401-024-02722-0.
4
Loss of hypothalamic MCH decreases food intake in amyotrophic lateral sclerosis.下丘脑 MCH 的缺失会减少肌萎缩侧索硬化症患者的食物摄入量。
Acta Neuropathol. 2023 Jun;145(6):773-791. doi: 10.1007/s00401-023-02569-x. Epub 2023 Apr 14.
5
Amyotrophic lateral sclerosis (ALS) and the endocrine system: Are there any further ties to be explored?肌萎缩侧索硬化症（ALS）与内分泌系统：是否还有其他有待探索的联系？
Aging Brain. 2021 Nov 8;1:100024. doi: 10.1016/j.nbas.2021.100024. eCollection 2021.
6
Association of blood lipids with onset and prognosis of amyotrophic lateral sclerosis: results from the ALS Swabia registry.血脂与肌萎缩侧索硬化症发病和预后的关系：来自 ALS 斯瓦比亚登记处的研究结果。
J Neurol. 2023 Jun;270(6):3082-3090. doi: 10.1007/s00415-023-11630-4. Epub 2023 Feb 28.
7
Causal Inference of Genetic Variants and Genes in Amyotrophic Lateral Sclerosis.肌萎缩侧索硬化症中基因变异与基因的因果推断
Front Genet. 2022 Jun 22;13:917142. doi: 10.3389/fgene.2022.917142. eCollection 2022.
8
The role of inflammation in neurodegeneration: novel insights into the role of the immune system in C9orf72 HRE-mediated ALS/FTD.炎症在神经退行性变中的作用：免疫系统在 C9orf72 HRE 介导的 ALS/FTD 中的作用的新见解。
Mol Neurodegener. 2022 Mar 18;17(1):22. doi: 10.1186/s13024-022-00525-z.
在不存在TDP-43聚集的情况下，与额颞叶痴呆和胃肠道症状相关的C9orf72特异性现象。
Acta Neuropathol. 2019 Dec;138(6):1093-1097. doi: 10.1007/s00401-019-02084-y. Epub 2019 Oct 17.
4
An ALS case with 38 (G4C2)-repeats in the C9orf72 gene shows TDP-43 and sparse dipeptide repeat protein pathology.一例C9orf72基因中有38个（G4C2）重复序列的肌萎缩侧索硬化症病例显示有TDP-43和稀疏的二肽重复蛋白病理改变。
Acta Neuropathol. 2019 May;137(5):855-858. doi: 10.1007/s00401-019-01996-z. Epub 2019 Mar 27.
5
C9orf72-mediated ALS and FTD: multiple pathways to disease.C9orf72 介导的肌萎缩侧索硬化症和额颞叶痴呆：多种疾病途径。
Nat Rev Neurol. 2018 Sep;14(9):544-558. doi: 10.1038/s41582-018-0047-2.
6
Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease.聚-GR 二肽重复聚合物与 C9ORF72 相关脑疾病的神经退行性变和临床病理亚型相关。
Acta Neuropathol Commun. 2018 Jul 20;6(1):63. doi: 10.1186/s40478-018-0564-7.
7
Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis.感码多聚-GR 二肽重复蛋白与神经退行性变相关，并且在 C9orf72 肌萎缩侧索硬化症重复扩展的树突中与 TDP-43 独特地共定位。
Acta Neuropathol. 2018 Mar;135(3):459-474. doi: 10.1007/s00401-017-1793-8. Epub 2017 Dec 1.
8
Plurihormonal cells of normal anterior pituitary: Facts and conclusions.正常垂体前叶的多激素细胞：事实与结论。
Oncotarget. 2017 Apr 25;8(17):29282-29299. doi: 10.18632/oncotarget.16502.
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Hypothalamic α-synuclein and its relation to weight loss and autonomic symptoms in Parkinson's disease.下丘脑α-突触核蛋白及其与帕金森病体重减轻和自主神经症状的关系。
Mov Disord. 2017 Feb;32(2):296-298. doi: 10.1002/mds.26868. Epub 2016 Nov 28.
10
Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia.C9orf72基因扩增相关额颞叶痴呆病理特征的时间及意义
Brain. 2016 Dec;139(Pt 12):3202-3216. doi: 10.1093/brain/aww250. Epub 2016 Oct 22.