Advances in the genetics of primary torsion dystonia.
作者信息
Valente Enza Maria, Albanese Alberto
机构信息
CSS-Mendel Institute viale Regina Margherita 261, 00198 Rome Italy.
出版信息
F1000 Biol Rep. 2010 Jun 16;2:41. doi: 10.3410/B2-41.
Abstract
Knowledge about the genetics of primary torsion dystonia (PTD) has been progressing at a very slow pace compared with other movement disorders. For many years, only one causative gene was known, DYT1/TOR1A, yet the recent identification of a second PTD causative gene (DYT6/THAP1), the detection of subclinical alterations caused by mutations in PTD genes in some healthy non-penetrant individuals, and functional studies on TOR1A and THAP1 protein products have significantly improved mutation detection, genotype-phenotype correlates, and our understanding of the cellular mechanisms underlying the development of dystonia.
摘要
相似文献
1
Advances in the genetics of primary torsion dystonia.
F1000 Biol Rep. 2010 Jun 16;2:41. doi: 10.3410/B2-41.
2
Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.对巴西原发性肌张力障碍家系的筛查发现了一种新的 THAP1 突变和一个从头的 TOR1A GAG 缺失。
Mov Disord. 2010 Dec 15;25(16):2854-7. doi: 10.1002/mds.23133.
3
Mutations in GNAL cause primary torsion dystonia.GNAL 基因突变导致原发性扭转痉挛。
Nat Genet. 2013 Jan;45(1):88-92. doi: 10.1038/ng.2496. Epub 2012 Dec 9.
4
New THAP1 mutation and role of putative modifier in TOR1A.新的THAP1突变及TOR1A中假定修饰因子的作用。
Acta Neurol Scand. 2017 Feb;135(2):183-188. doi: 10.1111/ane.12579. Epub 2016 Mar 4.
5
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.THAP1（DYT6）基因突变与伴有明显痉挛性发音障碍的全身性肌张力障碍：一项基因筛查研究。
Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1.
6
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.早发性肌张力障碍中THAP1（DYT6）的突变：一项基因筛查研究。
Lancet Neurol. 2009 May;8(5):441-6. doi: 10.1016/S1474-4422(09)70081-X. Epub 2009 Apr 1.
7
DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients.巴西的DYT6：患者的基因评估与临床特征
Tremor Other Hyperkinet Mov (N Y). 2014 Apr 15;4:226. doi: 10.7916/D83776RC. eCollection 2014.
8
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).DYT1 基因受转录因子 THAP1（DYT6）的抑制。
Ann Neurol. 2010 Oct;68(4):554-9. doi: 10.1002/ana.22157.
9
Genetic issues in the diagnosis of dystonias.遗传性运动障碍疾病的诊断中的遗传学问题。
Front Neurol. 2013 Apr 10;4:34. doi: 10.3389/fneur.2013.00034. eCollection 2013.
10
[Genetics of dystonia].[肌张力障碍的遗传学]
Fortschr Neurol Psychiatr. 2009 Aug;77 Suppl 1:S32-6. doi: 10.1055/s-0028-1109596. Epub 2009 Aug 14.
引用本文的文献
1
Generalized dystonia unraveled: Molecular mechanisms, diagnostic strategies, and treatment paradigms.全面解析全身性肌张力障碍：分子机制、诊断策略及治疗模式
Neurol Sci. 2025 Aug 22. doi: 10.1007/s10072-025-08404-3.
2
Update on pediatric dystonias: etiology, epidemiology, and management.小儿肌张力障碍的最新进展：病因、流行病学及管理
Degener Neurol Neuromuscul Dis. 2012 Apr 11;2:29-41. doi: 10.2147/DNND.S16082. eCollection 2012.
3
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.β-微管蛋白 4a 自动调节域的突变导致遗传性张力障碍。
Ann Neurol. 2013 Apr;73(4):546-53. doi: 10.1002/ana.23832. Epub 2013 Feb 19.
4
The non-motor syndrome of primary dystonia: clinical and pathophysiological implications.原发性肌张力障碍的非运动综合征：临床和病理生理学意义。
Brain. 2012 Jun;135(Pt 6):1668-81. doi: 10.1093/brain/awr224. Epub 2011 Sep 20.
本文引用的文献
1
EFNS guidelines on diagnosis and treatment of primary dystonias.EFNS 原发性运动障碍诊断和治疗指南。
Eur J Neurol. 2011 Jan;18(1):5-18. doi: 10.1111/j.1468-1331.2010.03042.x.
2
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.THAP1 突变（DYT6）是早发性肌张力障碍的另一个病因。
Neurology. 2010 Mar 9;74(10):846-50. doi: 10.1212/WNL.0b013e3181d5276d.
3
Novel THAP1 sequence variants in primary dystonia.原发性肌张力障碍中的新型 THAP1 序列变异。
Neurology. 2010 Jan 19;74(3):229-38. doi: 10.1212/WNL.0b013e3181ca00ca.
4
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia.在外周血中的表达谱揭示了 DYT1 型肌张力障碍的外显率特征。
Neurobiol Dis. 2010 May;38(2):192-200. doi: 10.1016/j.nbd.2009.12.019. Epub 2010 Jan 4.
5
Mutation screening of the DYT6/THAP1 gene in Italy.在意大利进行 DYT6/THAP1 基因突变筛查。
Mov Disord. 2009 Dec 15;24(16):2424-7. doi: 10.1002/mds.22861.
6
Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.散发性早发性肌张力障碍患者中R29氨基酸残基处一种新的THAP1突变的鉴定。
Mov Disord. 2009 Dec 15;24(16):2428-9. doi: 10.1002/mds.22849.
7
Cerebellothalamocortical connectivity regulates penetrance in dystonia.小脑丘脑皮质连接调节肌张力障碍的外显率。
J Neurosci. 2009 Aug 5;29(31):9740-7. doi: 10.1523/JNEUROSCI.2300-09.2009.
8
The monogenic primary dystonias.单基因原发性肌张力障碍
Brain. 2009 Aug;132(Pt 8):2005-25. doi: 10.1093/brain/awp172. Epub 2009 Jul 3.
9
Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia.时间辨别阈值：基于体素形态学的证据表明成人起病的原发性扭转性肌张力障碍存在内表型。
Brain. 2009 Sep;132(Pt 9):2327-35. doi: 10.1093/brain/awp156. Epub 2009 Jun 12.
10
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.THAP1（DYT6）基因突变与伴有明显痉挛性发音障碍的全身性肌张力障碍：一项基因筛查研究。
Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1.
Zotero 插件