Dystonia
Dystonia
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DOI：
10.1038/s41572-018-0023-6
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发表时间：
2018-09-20
影响因子：
81.5
通讯作者：
Bhatia, Kailash P.
中科院分区：
文献类型：
--
作者：
Balint, Bettina;Mencacci, Niccolo E.;Bhatia, Kailash P.
肌张力障碍是一种神经系统疾病，其特征是由于持续或间歇性肌肉收缩而导致异常的不自主运动或姿势。肌张力障碍可能是许多疾病的神经系统体征，无论是孤立的（孤立性肌张力障碍）还是伴有其他体征（联合肌张力障碍）。本入门手册的主要焦点是特发性或遗传性病因的孤立性肌张力障碍的形式。这些疾病的表现和严重程度各不相同，但可能影响所有年龄段，并导致严重残疾和生活质量受损。孟德尔形式的孤立性或联合性肌张力障碍背后基因的发现使得人们对其病理生理学有了更好的了解。在一些最常见的遗传性肌张力障碍中，例如由 TOR1A、THAP1、GCH1 和 KMT2B 突变引起的肌张力障碍以及特发性肌张力障碍，这些机制包括转录调节、纹状体多巴胺能信号传导和突触可塑性的异常以及神经元回路抑制的丧失。肌张力障碍的诊断主要基于临床体征，这种疾病的诊断和病因学定义仍然是一个挑战。有效的对症治疗可采用药物治疗（抗胆碱药）、肌肉注射肉毒毒素和深部脑刺激；然而，未来的研究有望带来可靠的生物标志物、更好的治疗方法和治愈这种疾病的方法。
Dystonia is a neurological condition characterized by abnormal involuntary movements or postures owing to sustained or intermittent muscle contractions. Dystonia can be the manifesting neurological sign of many disorders, either in isolation (isolated dystonia) or with additional signs (combined dystonia). The main focus of this Primer is forms of isolated dystonia of idiopathic or genetic aetiology. These disorders differ in manifestations and severity but can affect all age groups and lead to substantial disability and impaired quality of life. The discovery of genes underlying the mendelian forms of isolated or combined dystonia has led to a better understanding of its pathophysiology. In some of the most common genetic dystonias, such as those caused by TOR1A, THAP1, GCH1 and KMT2B mutations, and idiopathic dystonia, these mechanisms include abnormalities in transcriptional regulation, striatal dopaminergic signalling and synaptic plasticity and a loss of inhibition at neuronal circuits. The diagnosis of dystonia is largely based on clinical signs, and the diagnosis and aetiological definition of this disorder remain a challenge. Effective symptomatic treatments with pharmacological therapy (anticholinergics), intramuscular botulinum toxin injection and deep brain stimulation are available; however, future research will hopefully lead to reliable biomarkers, better treatments and cure of this disorder.