Whither hope for pharmacological treatment of charcot-marie-tooth disease type 1A?

PatelP.I.; PleasureD.

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Whither hope for pharmacological treatment of charcot-marie-tooth disease type 1A?

机译：在1A型Charcot-Marie-Tooth疾病的药理学治疗的情况！

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Charcot-Marie-Tooth disease type lA (CMTiA) is a domi-nantly inherited, slowly progressive, often-disabling symmetrical distal sensorimotor polyneuropathy, caused by duplication of 1.5 Mb on the short arm of chromosome 17 with consequent trisomy for PMP22 (peripheral myelin protein 22) encoding a peripheral nervous system myelin protein, that affects about l in 2000 people. Other than braces and other orthopedic interventions, no effective treatments of CMTlA are available. A report in 2004 by Passage et al1 found that treating PMP22 transgenic mice with a dose of ascorbic acid (AA; vitamin C) that would be equivalent to administration of 4 g of AA per day to an average adult human diminished peripheral nerve PMP22 mRNA abundance 10-fold. The findings that it also restored the peripheral nerve myelin sheath thickness to normal, improved clinical neurological function, and enhanced life span were greeted with great excitement among neuromuscular physicians.

机译：Charcot-Marie-Tooth疾病型La（CMTIA）是一种Domi-nainclation，慢慢进行，通常致残的对称远端感觉运动多变疗病，其在染色体短臂上的重复引起的1.5 Mb，随后PMP22的三族（外周髓鞘）蛋白质22）编码周围神经系统髓蛋白蛋白，影响2000人的L。除了牙套和其他整形外部干预措施，没有有效的CMTLA治疗。通过Presse等，2004年的报告发现，用剂量的抗坏血酸（AA;维生素C）治疗PMP22转基因小鼠，该小鼠将相当于每天4克AA给平均成人减少周围神经PMP22 mRNA丰度 10倍。结果还恢复了周围神经髓鞘鞘厚度至正常的，改善的临床神经功能，并在神经肌肉医生中兴奋地呼吸兴奋。

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《JAMA neurology》 |2013年第8期|共3页
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PatelP.I.; PleasureD.;
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Institute for Genetic Medicine Keck School of Medicine University of Southern California Los;

University of California Departments of Neurology and Pediatrics C/o Shriners Hospital 2425;

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正文语种 eng
中图分类神经病学与精神病学;
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1. Whither hope for pharmacological treatment of charcot-marie-tooth disease type 1A? [J] . PatelP.I., PleasureD. JAMA neurology . 2013,第8期

机译：在1A型Charcot-Marie-Tooth疾病的药理学治疗的情况！
2. High-dosage ascorbic acid treatment in charcot-marie-tooth disease type 1A results of a randomized, double-masked, controlled trial [J] . LewisR.A., McDermottM.P., HerrmannD.N., JAMA neurology . 2013,第8期

机译：一项随机，双掩蔽，对照试验的结果表明，高剂量抗坏血酸治疗1A型玛格丽特·玛丽病的结果
3. A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol (EudraCT no.: 2006-000032-27). [J] . Pareyson D, Schenone A, Fabrizi GM, Pharmacological research: The official journal of The Italian Pharmacological Society . 2006,第6期

机译：一项长期抗坏血酸治疗1A型Charcot-Marie-Tooth病（CMT-TRIAAL）的多中心，随机，双盲，安慰剂对照试验：研究方案（EudraCT号：2006-000032-27）。
4. THERAPEUTIC GENOME EDITING FOR CHARCOT-MARIE-TOOTH DISEASE TYPE 1A [C] . Jae young Lee, Ji-su Lee, Dong Woo Song, Conference on advancing manufacture of cell and gene therapies . 2019

机译：炭疽病1A型的治疗基因组编辑
5. Glycyl-tRNA synthetase mutations cause Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V: A potentially novel disease mechanism for human peripheral neuropathies. [D] . Antonellis, Anthony. 2005

机译：糖基-tRNA合成酶突变导致2D型Charcot-Marie-Tooth病和V型远端脊髓性肌萎缩症：人类周围神经病的潜在新型疾病机制。
6. Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A [O] . Michael E. Shy 2018

机译：反义寡核苷酸为患有1A型Charcot-Marie-Tooth病的患者带来希望
7. Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A [O] . Michael E. Shy 2017

机译：反义寡核苷酸为Charcot-Marie-Tooth疾病1A型患者提供希望

Whither hope for pharmacological treatment of charcot-marie-tooth disease type 1A?

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