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The non-Huntington disease choreas: Five new things.非亨廷顿病性舞蹈症:五件新事。
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本文引用的文献

1
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.与腺苷酸环化酶5相关的运动障碍:更广泛的谱系及基因型-表型相关性
Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.
2
Iron chelation therapy to prevent the manifestations of aceruloplasminemia.铁螯合疗法预防无铜蓝蛋白血症的表现。
Neurology. 2015 Sep 22;85(12):1085-6. doi: 10.1212/WNL.0000000000001956. Epub 2015 Aug 26.
3
Gluten chorea.麸质舞蹈病
Clin Neurol Neurosurg. 2015 Nov;138:8-9. doi: 10.1016/j.clineuro.2015.07.009. Epub 2015 Jul 17.
4
IgLON5 autoimmunity and abnormal behaviours during sleep.IgLON5自身免疫与睡眠期间的异常行为
Lancet. 2015 Apr 18;385(9977):1590. doi: 10.1016/S0140-6736(15)60445-7.
5
Movement disorders and brain iron overload in a new subtype of aceruloplasminemia.一种新亚型的无铜蓝蛋白血症中的运动障碍与脑铁过载
Parkinsonism Relat Disord. 2015 Jun;21(6):658-60. doi: 10.1016/j.parkreldis.2015.03.014. Epub 2015 Mar 19.
6
Cortical pencil lining in neuroferritinopathy: a diagnostic clue.神经铁蛋白病中的皮质铅笔样线条:一个诊断线索。
Neurology. 2015 Apr 28;84(17):1816-8. doi: 10.1212/WNL.0000000000001511. Epub 2015 Apr 1.
7
Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.神经铁蛋白病:从铁蛋白结构修饰到发病机制
Neurobiol Dis. 2015 Sep;81:134-43. doi: 10.1016/j.nbd.2015.02.007. Epub 2015 Mar 12.
8
Uncommon applications of deep brain stimulation in hyperkinetic movement disorders.深部脑刺激在运动亢进性运动障碍中的罕见应用。
Tremor Other Hyperkinet Mov (N Y). 2015 Feb 2;5:278. doi: 10.7916/D84X56HP. eCollection 2015.
9
Diagnosis and treatment of chorea syndromes.舞蹈症综合征的诊断与治疗
Curr Neurol Neurosci Rep. 2015;15(2):514. doi: 10.1007/s11910-014-0514-0.
10
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.一种新发的ADCY5突变导致早发性常染色体显性遗传性舞蹈病和肌张力障碍。
Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27.

非亨廷顿病性舞蹈症:五件新事。

The non-Huntington disease choreas: Five new things.

作者信息

Walker Ruth H

机构信息

Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx; and Department of Neurology, Mount Sinai School of Medicine, New York, NY.

出版信息

Neurol Clin Pract. 2016 Apr;6(2):150-156. doi: 10.1212/CPJ.0000000000000236.

DOI:10.1212/CPJ.0000000000000236
PMID:29377035
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5720620/
Abstract

PURPOSE OF REVIEW

Chorea can be due to a wide variety of causes. In this review, I provide updates on several recently identified genetic and autoimmune causes of chorea, and review evidence supporting the use of deep brain stimulation in chorea.

RECENT FINDINGS

New genes that may cause chorea include (encoding for adenylate cyclase 5) (in addition to amyotrophic lateral sclerosis and frontotemporal dementia), and those responsible for the neurodegeneration with brain iron accumulation disorders. Novel autoantibodies are increasingly being identified as associated with a variety of neurologic syndromes, including chorea, in both paraneoplastic and non-paraneoplastic settings. Deep brain stimulation can be a useful intervention in patients with chorea who do not respond to oral medications, whether due to neurodegenerative or nondegenerative causes.

SUMMARY

New causes of chorea continue to be identified. Correct diagnosis is essential for prognostication and treatment.

摘要

综述目的

舞蹈症可能由多种原因引起。在本综述中,我提供了一些近期发现的舞蹈症遗传和自身免疫病因的最新信息,并回顾了支持在舞蹈症中使用深部脑刺激的证据。

最新发现

可能导致舞蹈症的新基因包括(编码腺苷酸环化酶5)(除肌萎缩侧索硬化症和额颞叶痴呆外),以及那些与脑铁沉积障碍所致神经退行性变相关的基因。越来越多的新型自身抗体被确定与多种神经系统综合征相关,包括副肿瘤性和非副肿瘤性环境中的舞蹈症。深部脑刺激对于对口服药物无反应的舞蹈症患者可能是一种有用的干预措施,无论病因是神经退行性还是非退行性。

总结

舞蹈症的新病因不断被发现。正确诊断对于预后和治疗至关重要。