TUBB4A 相关疾病的发声障碍：苍白球内侧部和丘脑底核深部脑刺激治疗有效
Whispering dysphonia in TUBB4A-related disorders responsive to bipallidal deep brain stimulation.
机构信息
Département de Neurologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France.
Faculté de Médecine de Sorbonne Université, UMR S 1127, Inserm U 1127, and CNRS UMR 7225, Institut du Cerveau et de la Moëlle Epinière, Paris, France.
出版信息
Eur J Neurol. 2021 Mar;28(3):1082-1083. doi: 10.1111/ene.14602.
BACKGROUND
Mutations in TUBB4A are associated with a wide phenotypic spectrum including generalized dystonia with whispering dysphonia (DYT-TUBB4A).
METHODS
We report the case of a 44-year-old patient with DYT-TUBB4A with a clinical presentation of disabling progressive dystonia, with a prominent laryngeal, cervical and facial involvement.
RESULTS
Bipallidal deep brain stimulation (DBS) resulted in a 55% reduction of dystonia severity assessed by the Burke-Fahn-Marsden scale score 6 months after surgery. The effect was obvious on the cervical and facial components of dystonia.
CONCLUSION
We suggest that bipallidal DBS should be considered in patients with disabling dystonia related to TUBB4A variants.
背景
TUBB4A 基因突变与广泛的表型谱相关，包括伴有耳语样发音困难的全身性肌张力障碍（DYT-TUBB4A）。
方法
我们报告了一例 DYT-TUBB4A 患者，其临床表现为进行性致残性肌张力障碍，喉、颈和面部受累明显。
结果
苍白球内侧部深部脑刺激（DBS）术后 6 个月，根据 Burke-Fahn-Marsden 量表评分，患者的肌张力障碍严重程度降低了 55%。DBS 对颈面部的肌张力障碍症状有明显效果。
结论
我们建议，对于与 TUBB4A 变异相关的致残性肌张力障碍患者，应考虑行苍白球内侧部 DBS。
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