School of Medicine, University College Dublin, Dublin, Ireland.
APHP, Hôpital Salpêtrière, Département de Neurologie.
Curr Opin Neurol. 2018 Aug;31(4):491-497. doi: 10.1097/WCO.0000000000000576.
This review will discuss the expanding clinical spectrum of paroxysmal movement disorders and therapeutic options in light of emerging genotypic heterogeneity in these conditions.
Paroxysmal movement disorders comprise a heterogeneous group of rare neurological conditions characterized by intermittent episodes of abnormal movement associated with various triggers. As the clinical and genotypic spectrum of these disorders evolves, so also has the range of therapeutic options. Triheptanoin has recently been shown to be a very promising alternative to the ketogenic diet in paroxysmal exercise-induced dyskinesia. Four-aminopyridine is now considered first-line symptomatic therapy for episodic ataxia type-2, with pre-clinical findings indicating cerebellar neuroprotection.
In light of the newly emerging therapies, careful clinical phenotyping is needed to ensure diagnostic precision and timely initiation of appropriate therapies.
本综述将讨论阵发性运动障碍的临床表现不断扩大,并根据这些疾病的基因型异质性,讨论新的治疗选择。
阵发性运动障碍是一组罕见的神经疾病,其特征是间歇性的异常运动,与各种诱因有关。随着这些疾病的临床表现和基因型谱的发展,治疗选择的范围也在不断扩大。三庚酸已被证明是治疗阵发性运动诱发性运动障碍的一种很有前途的酮饮食替代疗法。4-氨基吡啶现在被认为是 2 型发作性共济失调的一线对症治疗药物,临床前研究结果表明其具有小脑神经保护作用。
鉴于新出现的治疗方法,需要仔细的临床表型分析来确保诊断的准确性和及时开始适当的治疗。