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本文引用的文献

1
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.
2
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.
3
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.
4
Symmetric corticobasal degeneration (S-CBD).对称性皮质基底节变性(S-CBD)。
Parkinsonism Relat Disord. 2010 Mar;16(3):208-14. doi: 10.1016/j.parkreldis.2009.11.013. Epub 2009 Dec 16.
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Distinct anatomical subtypes of the behavioural variant of frontotemporal dementia: a cluster analysis study.行为变异型额颞叶痴呆的不同解剖亚型:聚类分析研究。
Brain. 2009 Nov;132(Pt 11):2932-46. doi: 10.1093/brain/awp232. Epub 2009 Sep 17.
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Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations.额颞叶变性神经病理学亚型的命名:共识推荐
Acta Neuropathol. 2009 Jan;117(1):15-8. doi: 10.1007/s00401-008-0460-5. Epub 2008 Nov 18.
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Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.曼彻斯特额颞叶痴呆队列中前颗粒蛋白突变携带者的频率及临床特征:与微管相关蛋白tau(MAPT)突变患者及无已知突变患者的比较
Brain. 2008 Mar;131(Pt 3):721-31. doi: 10.1093/brain/awm331. Epub 2008 Jan 11.
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Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.前颗粒蛋白的突变是泛素阳性额颞叶变性的主要原因。
Hum Mol Genet. 2006 Oct 15;15(20):2988-3001. doi: 10.1093/hmg/ddl241. Epub 2006 Sep 1.
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Neuroanatomical correlates of behavioural disorders in dementia.痴呆症行为障碍的神经解剖学关联
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10
Left/right asymmetry of atrophy in semantic dementia: behavioral-cognitive implications.语义性痴呆中萎缩的左右不对称性:行为认知方面的影响
Neurology. 2003 Nov 11;61(9):1196-203. doi: 10.1212/01.wnl.0000091868.28557.b8.

额颞叶痴呆行为变异型的额不对称:临床影像学和发病机制的相关性。

Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates.

机构信息

Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA.

出版信息

Neurobiol Aging. 2013 Feb;34(2):636-9. doi: 10.1016/j.neurobiolaging.2012.03.009. Epub 2012 Apr 11.

DOI:10.1016/j.neurobiolaging.2012.03.009
PMID:22502999
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3404265/
Abstract

We aimed to assess associations between clinical, imaging, pathologic, and genetic features and frontal lobe asymmetry in behavioral variant frontotemporal dementia (bvFTD). Volumes of the left and right dorsolateral, medial, and orbital frontal lobes were measured in 80 bvFTD subjects and subjects were classified into 3 groups according to the degree of asymmetry (asymmetric left, asymmetric right, symmetric) using cluster analysis. The majority of subjects were symmetric (65%), with 20% asymmetric left and 15% asymmetric right. There were no clinical differences across groups, although there was a trend for greater behavioral dyscontrol in right asymmetric compared with left asymmetric subjects. More widespread atrophy involving the parietal lobe was observed in the symmetric group. Genetic features differed across groups with symmetric frontal lobes associated with C9ORF72 and tau mutations, while asymmetric frontal lobes were associated with progranulin mutations. These findings therefore suggest that neuroanatomical patterns of frontal lobe atrophy in bvFTD are influenced by specific gene mutations.

摘要

我们旨在评估行为变异型额颞叶痴呆(bvFTD)中临床、影像、病理和遗传特征与额叶不对称之间的关联。对 80 名 bvFTD 患者的左侧和右侧背外侧、内侧和眶额叶进行体积测量,并使用聚类分析根据不对称程度(左侧不对称、右侧不对称、对称)将患者分为 3 组。大多数患者为对称型(65%),20%为左侧不对称,15%为右侧不对称。各组之间没有临床差异,尽管右侧不对称患者的行为失控程度较左侧不对称患者有增加的趋势。在对称组中观察到更广泛的涉及顶叶的萎缩。不同组之间的遗传特征也存在差异,对称额叶与 C9ORF72 和 tau 突变相关,而不对称额叶与颗粒蛋白基因突变相关。因此,这些发现表明 bvFTD 中额叶萎缩的神经解剖模式受特定基因突变的影响。