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Bipolar affective disorder preceding frontotemporal dementia in a patient with C9ORF72 mutation: is there a genetic link between these two disorders?

作者信息

Floris Gianluca, Borghero Giuseppe, Cannas Antonino, Stefano Francesca Di, Murru Maria R, Corongiu Daniela, Cuccu Stefania, Tranquilli Stefania, Marrosu Maria G, Chiò Adriano, Marrosu Francesco

出版信息

J Neurol. 2013 Apr;260(4):1155-7. doi: 10.1007/s00415-013-6833-2. Epub 2013 Jan 13.

DOI:10.1007/s00415-013-6833-2
PMID:23314407
Abstract
摘要

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1
Bipolar affective disorder preceding frontotemporal dementia in a patient with C9ORF72 mutation: is there a genetic link between these two disorders?一名携带C9ORF72突变的患者在额颞叶痴呆之前患有双相情感障碍：这两种疾病之间是否存在遗传联系？
J Neurol. 2013 Apr;260(4):1155-7. doi: 10.1007/s00415-013-6833-2. Epub 2013 Jan 13.
2
C9ORF72 repeat expansion and bipolar disorder - is there a link? No mutation detected in a Sardinian cohort of patients with bipolar disorder.C9ORF72重复扩增与双相情感障碍——存在关联吗？在撒丁岛双相情感障碍患者队列中未检测到突变。
Bipolar Disord. 2014 Sep;16(6):667-8. doi: 10.1111/bdi.12210. Epub 2014 May 5.
3
Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype.与C9orf72突变相关的额颞叶痴呆中的结构性失用症：拓展临床和神经心理学表型
Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):8-15. doi: 10.3109/21678421.2014.959450. Epub 2014 Oct 6.
4
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics.额颞叶痴呆遗传学的神经影像学特征：C9ORF72、tau、颗粒蛋白和散发性病例。
Brain. 2012 Mar;135(Pt 3):794-806. doi: 10.1093/brain/aws001.
5
Distinct Neuroanatomical Correlates of Neuropsychiatric Symptoms in the Three Main Forms of Genetic Frontotemporal Dementia in the GENFI Cohort.在 GENFI 队列中，三种主要遗传形式额颞叶痴呆的神经精神症状有不同的神经解剖学相关性。
J Alzheimers Dis. 2018;65(1):147-163. doi: 10.3233/JAD-180053.
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Aust N Z J Psychiatry. 2019 Aug;53(8):815-816. doi: 10.1177/0004867418823271. Epub 2019 Jan 17.
7
Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.9p 染色体上 C9ORF72 突变引起的家族性额颞叶痴呆的临床和病理特征。
Brain. 2012 Mar;135(Pt 3):709-22. doi: 10.1093/brain/awr354. Epub 2012 Feb 17.
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Heterogeneous brain FDG-PET metabolic patterns in patients with C9orf72 mutation.携带 C9orf72 突变患者脑 FDG-PET 代谢的异质性模式。
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Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype.具有额颞叶痴呆（FTD）表型的C9orf72和TARDBP双突变的神经影像学特征
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Bipolar Disorder and Frontotemporal Dementia: An Intriguing Association.双相情感障碍与额颞叶痴呆：一种有趣的关联。
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Frontotemporal Dementia and Late-Onset Bipolar Disorder: The Many Directions of a Busy Road.额颞叶痴呆与迟发性双相情感障碍：一条繁忙道路的多个方向
Front Psychiatry. 2021 Dec 2;12:768722. doi: 10.3389/fpsyt.2021.768722. eCollection 2021.
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Exploring Signatures of Neurodegeneration in Early-Onset Older-Age Bipolar Disorder and Behavioral Variant Frontotemporal Dementia.

本文引用的文献

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Development of frontotemporal dementia in a case of bipolar affective disorder: is there a link?一例双相情感障碍患者出现额颞叶痴呆：两者存在关联吗？
BMJ Case Rep. 2011 Feb 2;2011:bcr0920103303. doi: 10.1136/bcr.09.2010.3303.
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Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics.额颞叶痴呆遗传学的神经影像学特征：C9ORF72、tau、颗粒蛋白和散发性病例。
Brain. 2012 Mar;135(Pt 3):794-806. doi: 10.1093/brain/aws001.
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Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features.
探索早发性老年双相情感障碍和行为变异型额颞叶痴呆中的神经退行性变特征。
Front Neurol. 2021 Sep 3;12:713388. doi: 10.3389/fneur.2021.713388. eCollection 2021.
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Bipolar Disorder Among Patients Diagnosed With Frontotemporal Dementia.额颞叶痴呆患者的双相情感障碍。
J Neuropsychiatry Clin Neurosci. 2020 Fall;32(4):376-384. doi: 10.1176/appi.neuropsych.20010003. Epub 2020 Jun 5.
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The Emerging Role of DNA Damage in the Pathogenesis of the C9orf72 Repeat Expansion in Amyotrophic Lateral Sclerosis.DNA 损伤在 C9orf72 重复扩增型肌萎缩侧索硬化症发病机制中的新作用
Int J Mol Sci. 2018 Oct 12;19(10):3137. doi: 10.3390/ijms19103137.
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Manic behavior and asymmetric right frontotemporal dementia from a novel progranulin mutation.一种新型颗粒蛋白前体突变导致的躁狂行为和不对称性右额颞叶痴呆
Neuropsychiatr Dis Treat. 2018 Feb 26;14:657-662. doi: 10.2147/NDT.S156084. eCollection 2018.
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Update on the Epidemiology, Diagnosis, and Treatment of Mania in Older-Age Bipolar Disorder.老年双相情感障碍躁狂发作的流行病学、诊断及治疗进展
Curr Psychiatry Rep. 2017 Aug;19(8):46. doi: 10.1007/s11920-017-0804-8.
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Late life bipolar disorder evolving into frontotemporal dementia mimic.晚年双相情感障碍演变为额颞叶痴呆样病症。
Neuropsychiatr Dis Treat. 2016 Sep 7;12:2207-12. doi: 10.2147/NDT.S99229. eCollection 2016.
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The behavioural variant frontotemporal dementia (bvFTD) syndrome in psychiatry.精神病学中的行为变异型额颞叶痴呆（bvFTD）综合征
J Neurol Neurosurg Psychiatry. 2016 May;87(5):501-11. doi: 10.1136/jnnp-2015-310697. Epub 2015 Jul 27.
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Emerging role of RNA•DNA hybrids in C9orf72-linked neurodegeneration.RNA•DNA杂交体在C9orf72相关神经退行性变中的新作用。
Cell Cycle. 2015;14(4):526-32. doi: 10.1080/15384101.2014.995490.
携带 C9ORF72 六核苷酸重复扩展的额颞叶痴呆：临床、神经解剖和神经病理学特征。
Brain. 2012 Mar;135(Pt 3):736-50. doi: 10.1093/brain/awr361.
4
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.C9ORF72 上的六核苷酸重复扩展是 9p21 连锁 ALS-FTD 的原因。
Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21.
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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.非编码区 C9ORF72 内的 GGGGCC 六核苷酸重复扩展导致 9 号染色体连锁额颞叶痴呆和肌萎缩侧索硬化症。
Neuron. 2011 Oct 20;72(2):245-56. doi: 10.1016/j.neuron.2011.09.011. Epub 2011 Sep 21.
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From genotype to phenotype: two cases of genetic frontotemporal lobar degeneration with premorbid bipolar disorder.从基因型到表型：两例有前驱期双相障碍的遗传性额颞叶痴呆。
J Alzheimers Dis. 2011;27(4):791-7. doi: 10.3233/JAD-2011-110788.
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Bipolar disorder and dementia: where is the link?双相情感障碍与痴呆：两者有何关联？
Psychogeriatrics. 2011 Mar;11(1):60-7. doi: 10.1111/j.1479-8301.2010.00348.x.
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The diagnostic challenge of psychiatric symptoms in neurodegenerative disease: rates of and risk factors for prior psychiatric diagnosis in patients with early neurodegenerative disease.神经退行性疾病中精神症状的诊断挑战：早期神经退行性疾病患者中既往精神疾病诊断的发生率和风险因素。
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Frontotemporal dementia presenting as schizophrenia-like psychosis in young people: clinicopathological series and review of cases.以精神分裂症样精神病为表现的年轻人额颞叶痴呆：临床病理系列及病例回顾
Br J Psychiatry. 2009 Apr;194(4):298-305. doi: 10.1192/bjp.bp.108.057034.
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Mania in neurologic disorders.神经系统疾病中的躁狂症。
Curr Psychiatry Rep. 2000 Oct;2(5):440-5. doi: 10.1007/s11920-000-0030-6.