Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

Dols-Icardo Oriol; Garcia-Redondo Alberto; Rojas-Garcia Ricardo; Borrego-Hernandez Daniel; Illan-Gala Ignacio; Luis Munoz-Blanco Jose; Rabano Alberto; Cervera-Carles Laura; Juarez-Rufian Alexandra; Spataro Nino; De Luna Noemi; Galan Lucia; Cortes-Vicente Elena; Fortea Juan; Blesa Rafael; Grau-Rivera Oriol; Lleo Alberto; Esteban-Perez Jesus; Gelpi Ellen; Clarimon Jordi

首页> 外文期刊>Journal of Neurology, Neurosurgery and Psychiatry >Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

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Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

机译：已知的肌萎缩侧硬化和额定痴呆症基因的分析揭示了表现出不携带C9ORF72膨胀突变的疾病的大量遗传负担

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摘要

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum.

机译：肌萎缩侧面硬化症（ALS）和额定仪性痴呆（FTD）是临床，病理和遗传连续体的一部分。

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《Journal of Neurology, Neurosurgery and Psychiatry》 |2018年第2期|共7页
作者
Dols-Icardo Oriol; Garcia-Redondo Alberto; Rojas-Garcia Ricardo; Borrego-Hernandez Daniel; Illan-Gala Ignacio; Luis Munoz-Blanco Jose; Rabano Alberto; Cervera-Carles Laura; Juarez-Rufian Alexandra; Spataro Nino; De Luna Noemi; Galan Lucia; Cortes-Vicente Elena; Fortea Juan; Blesa Rafael; Grau-Rivera Oriol; Lleo Alberto; Esteban-Perez Jesus; Gelpi Ellen; Clarimon Jordi;
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作者单位

Univ Autonoma Barcelona Hosp Santa Creu &

St Pau Memory Unit Neurol Dept Barcelona Spain;

Inst Invest Biomed Hosp 12 Octubre Dept Neurol ALS Unit Madrid Spain;

Ctr Biomed Network Res Rare Dis CIBERER Madrid Spain;

Inst Invest Biomed Hosp 12 Octubre Dept Neurol ALS Unit Madrid Spain;

Univ Autonoma Barcelona Hosp Santa Creu &

St Pau Memory Unit Neurol Dept Barcelona Spain;

Hosp Univ Gregorio Maranon Dept Neurol ALS Unit Madrid Spain;

CIEN Fdn Carlos III Inst Hlth Dept Neuropathol &

Tissue Bank Madrid Spain;

Univ Autonoma Barcelona Hosp Santa Creu &

St Pau Memory Unit Neurol Dept Barcelona Spain;

Inst Invest Biomed Hosp 12 Octubre Dept Neurol ALS Unit Madrid Spain;

Barcelona Inst Sci &

Technol Ctr Genom Regulat CRG Barcelona Spain;

Ctr Biomed Network Res Rare Dis CIBERER Madrid Spain;

Hosp Clin Univ San Carlos Dept Neurol ALS Unit Madrid Spain;

Univ Autonoma Barcelona Hosp Santa Creu &

St Pau Dept Neurol Neuromuscular Disorders Unit;

Univ Autonoma Barcelona Hosp Santa Creu &

St Pau Memory Unit Neurol Dept Barcelona Spain;

Univ Autonoma Barcelona Hosp Santa Creu &

St Pau Memory Unit Neurol Dept Barcelona Spain;

Inst Invest Biomed August Pi i Sunyer IDIBAPS Biobanc Hosp Clin Neurol Tissue Bank Barcelona;

Univ Autonoma Barcelona Hosp Santa Creu &

St Pau Memory Unit Neurol Dept Barcelona Spain;

Inst Invest Biomed Hosp 12 Octubre Dept Neurol ALS Unit Madrid Spain;

Inst Invest Biomed August Pi i Sunyer IDIBAPS Biobanc Hosp Clin Neurol Tissue Bank Barcelona;

Univ Autonoma Barcelona Hosp Santa Creu &

St Pau Memory Unit Neurol Dept Barcelona Spain;

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原文格式 PDF
正文语种 eng
中图分类神经病学;
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专利

1. Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation [J] . Dols-Icardo Oriol, Garcia-Redondo Alberto, Rojas-Garcia Ricardo, Journal of Neurology, Neurosurgery and Psychiatry . 2018,第2期

机译：已知的肌萎缩侧硬化和额定痴呆症基因的分析揭示了表现出不携带C9ORF72膨胀突变的疾病的大量遗传负担
2. Cerebrospinal Fluid Biomarkers for Alzheimer's Disease in Patients with Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis with the C9ORF72 Repeat Expansion [J] . Kamalainen Anna, Herukka Sanna-Kaisa, Hartikainen Paivi, Dementia and geriatric cognitive disorders . 2015,第5a6期

机译：脑脊液生物标志物治疗额颞叶变性和肌萎缩性侧索硬化伴C9ORF72重复扩增的阿尔茨海默氏病
3. Mutation analysis of the TIA1 gene in Chinese patients with amyotrophic lateral sclerosis and frontotemporal dementia [J] . Zhenhua Yuan, Bin Jiao, Lihua Hou, Neurobiology of Aging: Experimental and Clinical Research . 2018,第期

机译：中国肌营养侧面硬化和额定痴呆症患者TIA1基因的突变分析
4. Identification of Three Mutations in the Cu,Zn-Superoxide Dismutase (Cu,Zn-SOD) Gene with Familial Amyotrophic Lateral Sclerosis: Transduction of Human Cu,Zn-SOD into PC12 Cells by HIV-1 TAT Protein Basic Domain [C] . CHIH-MING CHOU, CHANG-JEN HUANG, CHWEN-MING SHIH, Asian Society for Mitochondrial Research and Medicine . 2005

机译：鉴定Cu，Zn-超氧化物歧化酶（Cu，Zn-SOD）基因的三种突变与家族性肌肌疏远硬化剂：HIV-1 TAT蛋白碱性结构域的转导，Zn-SOD进入PC12细胞
5. Transcriptional Inhibition of (GGGGCC) c9orf72 Hexanucleotide Repeat Expansion in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis [D] . Kim, Yujin E. 2019

机译：在额颞痴呆和肌萎缩性侧索硬化中（GGGGCC）c9orf72六核苷酸重复扩展的转录抑制。
6. Biomarkers for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated With Hexanucleotide Expansion Mutations in C9orf72 [O] . Mary Kay Floeter, Tania F. Gendron 2018

机译：肌萎缩性侧索硬化和额颞痴呆与C9orf72中的六核苷酸扩展突变相关的生物标志物。
7. C9orf72 Hexanucleotide Repeat Expansions as the Causative Mutation for Chromosome 9p21–Linked Amyotrophic Lateral Sclerosis and Frontotemporal Dementia [O] . Hussein Daoud, Hamid Suhail, Mike Sabbagh, 2012

机译：C9ORF72己核苷酸重复膨胀作为染色体9p21连接的肌营养侧面硬化和额定颞痴呆症的致病性突变

Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

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