家族性 Lund 额颞叶痴呆由 C9ORF72 六核苷酸扩展引起。
Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion.
机构信息
Department of Pathology, Lund University, Regional Laboratories Region Skåne, Lund, Sweden.
出版信息
Neurobiol Aging. 2012 Aug;33(8):1850.e13-6. doi: 10.1016/j.neurobiolaging.2012.02.019. Epub 2012 Apr 6.
Abstract
Frontotemporal dementia (FTD) as an important clinical entity was rediscovered in Lund and Manchester in the early 1990s. Here we show that the large Lund pedigree with behavioral variant of frontotemporal dementia previously described with this disorder has an expansion in the recently described C9ORF72 locus on chromosome 9.
摘要
额颞叶痴呆（FTD）作为一种重要的临床实体，于 20 世纪 90 年代初在隆德和曼彻斯特重新被发现。在这里，我们展示了以前描述的具有行为变异型额颞叶痴呆的大型隆德家族，其在最近描述的 9 号染色体 C9ORF72 基因座存在扩展。
相似文献
1
Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion.家族性 Lund 额颞叶痴呆由 C9ORF72 六核苷酸扩展引起。
Neurobiol Aging. 2012 Aug;33(8):1850.e13-6. doi: 10.1016/j.neurobiolaging.2012.02.019. Epub 2012 Apr 6.
2
Screening for C9ORF72 repeat expansion in FTLD.在额颞叶变性中进行 C9ORF72 重复扩展的筛查。
Neurobiol Aging. 2012 Aug;33(8):1850.e1-11. doi: 10.1016/j.neurobiolaging.2012.02.017. Epub 2012 Mar 27.
3
Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease.阿尔茨海默病中 C9ORF72 六核苷酸重复序列分析。
Neurobiol Aging. 2012 Aug;33(8):1846.e5-6. doi: 10.1016/j.neurobiolaging.2012.01.109. Epub 2012 Mar 10.
4
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.意大利散发性 ALS 人群中的 C9ORF72 六核苷酸重复扩展。
Neurobiol Aging. 2012 Aug;33(8):1848.e15-20. doi: 10.1016/j.neurobiolaging.2012.02.011. Epub 2012 Mar 13.
5
High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.在希腊家族性和散发性 ALS 患者中，C9ORF72 六核苷酸重复扩展的高频率。
Neurobiol Aging. 2012 Aug;33(8):1851.e1-5. doi: 10.1016/j.neurobiolaging.2012.02.021. Epub 2012 Mar 22.
6
Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia.C9ORF72 扩张突变不会影响额颞叶痴呆患者的血浆颗粒蛋白前体水平。
Neurobiol Aging. 2012 Aug;33(8):1851.e17-9. doi: 10.1016/j.neurobiolaging.2012.03.005. Epub 2012 Apr 11.
7
C9orf72 mutations may be rare in frontotemporal lobar degeneration patients in India.在印度，C9orf72突变在额颞叶痴呆患者中可能较为罕见。
Amyotroph Lateral Scler Frontotemporal Degener. 2015;17(1-2):151-3. doi: 10.3109/21678421.2015.1074706. Epub 2015 Oct 14.
8
C9ORF72 repeat expansions not detected in a group of patients with schizophrenia.未在一组精神分裂症患者中检测到 C9ORF72 重复扩展。
Neurobiol Aging. 2013 Apr;34(4):1309.e9-10. doi: 10.1016/j.neurobiolaging.2012.08.011. Epub 2012 Oct 1.
9
Screening for C9orf72 repeat expansions in parkinsonian syndromes.帕金森综合征中 C9orf72 重复扩展的筛查。
Neurobiol Aging. 2013 Apr;34(4):1311.e3-4. doi: 10.1016/j.neurobiolaging.2012.09.002. Epub 2012 Oct 11.
10
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features.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.
引用本文的文献
1
Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia.基因 GGGGCC 六核苷酸重复扩增：从肌萎缩侧索硬化症到额颞叶痴呆的高度临床变异性。
J Pers Med. 2023 Sep 19;13(9):1396. doi: 10.3390/jpm13091396.
2
Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.单基因额颞叶痴呆的表型异质性
Front Aging Neurosci. 2015 Sep 1;7:171. doi: 10.3389/fnagi.2015.00171. eCollection 2015.
3
Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.瑞典一家族中伴有C9ORF72基因扩增的额颞叶痴呆：临床及神经病理学特征
Am J Neurodegener Dis. 2013 Nov 29;2(4):276-86. eCollection 2013.
4
C9ORF72 mutations in neurodegenerative diseases.神经退行性疾病中的C9ORF72突变
Mol Neurobiol. 2014 Feb;49(1):386-98. doi: 10.1007/s12035-013-8528-1. Epub 2013 Aug 10.
本文引用的文献
1
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.
2
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.
3
Chromosome 9 ALS and FTD locus is probably derived from a single founder.9 号染色体肌萎缩性侧索硬化症和额颞叶痴呆（ALS/FTD）位点可能源自单一的始祖。
Neurobiol Aging. 2012 Jan;33(1):209.e3-8. doi: 10.1016/j.neurobiolaging.2011.08.005. Epub 2011 Sep 16.
4
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia.修订后的额颞叶痴呆行为变异型诊断标准的敏感性。
Brain. 2011 Sep;134(Pt 9):2456-77. doi: 10.1093/brain/awr179. Epub 2011 Aug 2.
5
A harmonized classification system for FTLD-TDP pathology.额颞叶痴呆-嗜银颗粒蛋白病（FTLD-TDP）病理学的统一分类系统。
Acta Neuropathol. 2011 Jul;122(1):111-3. doi: 10.1007/s00401-011-0845-8. Epub 2011 Jun 5.
6
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p.家族性额颞叶痴呆伴肌萎缩侧索硬化症和 9p 染色体共享单倍型。
J Neurol. 2011 Apr;258(4):647-55. doi: 10.1007/s00415-010-5815-x. Epub 2010 Nov 12.
7
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.芬兰肌萎缩侧索硬化症中 9p21 染色体：一项全基因组关联研究。
Lancet Neurol. 2010 Oct;9(10):978-85. doi: 10.1016/S1474-4422(10)70184-8.
8
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.在英国和其他七个国家的散发型肌萎缩侧索硬化症中染色体 9p21：一项全基因组关联研究。
Lancet Neurol. 2010 Oct;9(10):986-94. doi: 10.1016/S1474-4422(10)70197-6.
9
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.7p21 常见变异与含有 TDP-43 包涵体的额颞叶变性有关。
Nat Genet. 2010 Mar;42(3):234-9. doi: 10.1038/ng.536. Epub 2010 Feb 14.
10
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.全基因组关联研究确定19p13.3（UNC13A）和9p21.2为散发性肌萎缩侧索硬化症的易感基因座。
Nat Genet. 2009 Oct;41(10):1083-7. doi: 10.1038/ng.442. Epub 2009 Sep 6.
Zotero 插件