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FOSMN: A possible TDP-43 proteinopathy to consider in a patient with facial sensory symptoms.

作者信息

Agirre-Beitia Garazi, Moreno-Estébanez Ana, González-Pinto González Tirso, Melgar Jiménez Borja, Campos Rodríguez Iria, Cabral Martínez Laura, Jauregui Barrutia Amaia, González Eizaguirre Amaia, Caballero Romero Ivan, Bárcena Llona Joseba, Gómez-Esteban Juan Carlos

机构信息

Neurology Department (GA-B, AM-E, TG-PG, I. Campos Rodríguez, LCM, AJB, AGE, JBL, JCG-E) and Neurophysiology Department (BMJ), Cruces University Hospital; and Neurology Department (I. Caballero Romero), Basurto University Hospital, Basque Country.

出版信息

Neurol Clin Pract. 2020 Oct;10(5):e47-e50. doi: 10.1212/CPJ.0000000000000753.

DOI:10.1212/CPJ.0000000000000753
PMID:33299678
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7717637/
Abstract
摘要

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Neurol Clin Pract. 2020 Oct;10(5):e47-e50. doi: 10.1212/CPJ.0000000000000753.
2
Facial Onset Sensory and Motor Neuronopathy: Further Evidence for a TDP-43 Proteinopathy.面部起病的感觉和运动神经元病:TDP-43蛋白病的进一步证据
Case Rep Neurol. 2015 Apr 23;7(1):95-100. doi: 10.1159/000381944. eCollection 2015 Jan-Apr.
3
TAR DNA-binding protein 43 pathology in a case clinically diagnosed with facial-onset sensory and motor neuronopathy syndrome: an autopsied case report and a review of the literature.TAR DNA 结合蛋白 43 病理学在一例临床诊断为面肌感觉运动神经元病综合征的病例中:一例尸检病例报告及文献复习。
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Facial onset sensory and motor neuronopathy (FOSMN syndrome): Cases series and systematic review.面肌起始感觉运动神经元病(FOSMN 综合征):病例系列和系统评价。
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LATE-NC staging in routine neuropathologic diagnosis: an update.常规神经病理诊断中的晚期神经节细胞(stage)分期:更新。
Acta Neuropathol. 2023 Feb;145(2):159-173. doi: 10.1007/s00401-022-02524-2. Epub 2022 Dec 13.

本文引用的文献

1
Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?面肌起始感觉运动神经元病:一种具有寡基因起源的运动神经元病?
Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):172-175. doi: 10.1080/21678421.2019.1582671. Epub 2019 Mar 20.
2
TDP43 pathology in the brain, spinal cord, and dorsal root ganglia of a patient with FOSMN.伴有 FOSMN 的患者大脑、脊髓和背根神经节中的 TDP43 病理学改变。
Neurology. 2019 Feb 26;92(9):e951-e956. doi: 10.1212/WNL.0000000000007008. Epub 2019 Jan 30.
3
Facial onset sensory and motor neuronopathy.面部起病的感觉和运动神经元病。
Neurol Sci. 2016 Dec;37(12):1905-1909. doi: 10.1007/s10072-016-2686-7. Epub 2016 Jul 29.
4
Facial Onset Sensory and Motor Neuronopathy: Further Evidence for a TDP-43 Proteinopathy.面部起病的感觉和运动神经元病:TDP-43蛋白病的进一步证据
Case Rep Neurol. 2015 Apr 23;7(1):95-100. doi: 10.1159/000381944. eCollection 2015 Jan-Apr.
5
Facial onset sensory motor neuronopathy (FOSMN) syndrome: an unusual amyotrophic lateral sclerosis phenotype?面部起病的感觉运动神经元病(FOSMN)综合征:一种不寻常的肌萎缩侧索硬化表型?
J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):951. doi: 10.1136/jnnp-2014-307756. Epub 2014 Mar 18.
6
TAR DNA-binding protein 43 pathology in a case clinically diagnosed with facial-onset sensory and motor neuronopathy syndrome: an autopsied case report and a review of the literature.TAR DNA 结合蛋白 43 病理学在一例临床诊断为面肌感觉运动神经元病综合征的病例中:一例尸检病例报告及文献复习。
J Neurol Sci. 2013 Sep 15;332(1-2):148-53. doi: 10.1016/j.jns.2013.06.027. Epub 2013 Jul 9.
7
Facial onset sensory and motor neuronopathy (FOSMN syndrome): a novel syndrome in neurology.面部起病的感觉和运动神经元病(FOSMN综合征):神经病学中的一种新型综合征。
Brain. 2006 Dec;129(Pt 12):3384-90. doi: 10.1093/brain/awl258. Epub 2006 Sep 29.