PDF(Pubmed)
Abstract：
UNASSIGNED: DYT-TUBB4A, formerly known as DYT4, has not been comprehensively described as only one large family and three individual cases have been published. We have recently described an in depth genetic and protein structural analysis of eleven additional cases from four families with four new pathogenic variants. We aim to report on the phenomenology of these cases suffering from DYT-TUBB4A and to perform a comprehensive review of the clinical presentation and treatment responses of all DYT-TUBB4A cases reported in the literature.
UNASSIGNED: The clinical picture was typically characterized by laryngeal dystonia (more than three quarters of all cases), associated with cervical dystonia, upper limb dystonia and frequent generalization. Extension of the dystonia to the lower limbs, creating the famous \"hobby horse\" gait, was present in more than 20% of cases (in only one of ours). Globus pallidus pars interna (GPi) deep brain stimulation (DBS), performed in 4 cases, led to a good improvement with greatest benefit in motoric and less benefit in laryngeal symptoms. Medical treatment was generally rather poorly effective, except some benefit from propranolol, tetrabenazine and alcohol intake.
UNASSIGNED: Laryngeal involvement is a hallmark of DYT-TUBB4A. Symptomatic treatment with GPi-DBS led to the greatest benefit in motoric symptoms. Nevertheless, TUBB4A mutations remain an exceedingly rare cause of laryngeal or other isolated dystonia and regular screening of TUBB4A mutations for isolated dystonias has a very low yield.
UNASSIGNED: The clinical picture was typically characterized by laryngeal dystonia (more than three quarters of all cases), associated with cervical dystonia, upper limb dystonia and frequent generalization. Extension of the dystonia to the lower limbs, creating the famous \"hobby horse\" gait, was present in more than 20% of cases (in only one of ours). Globus pallidus pars interna (GPi) deep brain stimulation (DBS), performed in 4 cases, led to a good improvement with greatest benefit in motoric and less benefit in laryngeal symptoms. Medical treatment was generally rather poorly effective, except some benefit from propranolol, tetrabenazine and alcohol intake.
UNASSIGNED: Laryngeal involvement is a hallmark of DYT-TUBB4A. Symptomatic treatment with GPi-DBS led to the greatest benefit in motoric symptoms. Nevertheless, TUBB4A mutations remain an exceedingly rare cause of laryngeal or other isolated dystonia and regular screening of TUBB4A mutations for isolated dystonias has a very low yield.
摘要：
■DYT-TUBB4A,以前称为DYT4，尚未全面描述为只有一个大家庭和三个单独的案例已经发表。我们最近描述了对来自四个家族的另外11例病例的深入遗传和蛋白质结构分析，这些病例具有四个新的致病变体。我们旨在报告这些患有DYT-TUBB4A的病例的现象学，并对文献中报道的所有DYT-TUBB4A病例的临床表现和治疗反应进行全面审查。
■临床表现通常以喉肌张力障碍（占所有病例的四分之三以上）为特征，与宫颈肌张力障碍有关，上肢肌张力障碍和频繁的泛化。肌张力障碍延伸到下肢，创造了著名的“爱好马”步态，在超过20%的病例中存在(只有我们中的一例)。苍白球神经（GPi）深部脑刺激（DBS），在4个案例中进行，导致了良好的改善，在运动方面获益最大，而在喉部症状方面获益较少。药物治疗通常效果不佳，除了普萘洛尔的一些好处，丁苯那嗪和酒精摄入。
■喉部受累是DYT-TUBB4A的标志。GPi-DBS的对症治疗在运动症状方面带来了最大的益处。然而，TUBB4A突变仍然是喉或其他孤立性肌张力障碍的极为罕见的原因，并且定期筛查TUBB4A突变对孤立性肌张力障碍的产量非常低。
■临床表现通常以喉肌张力障碍（占所有病例的四分之三以上）为特征，与宫颈肌张力障碍有关，上肢肌张力障碍和频繁的泛化。肌张力障碍延伸到下肢，创造了著名的“爱好马”步态，在超过20%的病例中存在(只有我们中的一例)。苍白球神经（GPi）深部脑刺激（DBS），在4个案例中进行，导致了良好的改善，在运动方面获益最大，而在喉部症状方面获益较少。药物治疗通常效果不佳，除了普萘洛尔的一些好处，丁苯那嗪和酒精摄入。
■喉部受累是DYT-TUBB4A的标志。GPi-DBS的对症治疗在运动症状方面带来了最大的益处。然而，TUBB4A突变仍然是喉或其他孤立性肌张力障碍的极为罕见的原因，并且定期筛查TUBB4A突变对孤立性肌张力障碍的产量非常低。
