小脑在 DYT-THAP1 型肌张力障碍中的作用。

Cerebellar Involvement in DYT-THAP1 Dystonia.

机构信息

Department of Neurology, Medical Faculty, Heinrich Heine University Düsseldorf, Moorenstraße 5, 40225, Düsseldorf, Germany.

Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

出版信息

Cerebellum. 2019 Oct;18(5):969-971. doi: 10.1007/s12311-019-01062-0.

DOI:10.1007/s12311-019-01062-0

PMID:31367947

Abstract

DYT-THAP1 dystonia is known to present a variety of clinical symptoms. To the best of our knowledge, this is the first case with DYT-THAP 1 dystonia and clinical signs of cerebellar involvement studied with transcranial magnetic stimulation in vivo. We report a case of a 51-year-old male DYT-THAP1 mutation carrier with dystonia, who additionally developed ataxia 1.5 years ago. To study cerebellar involvement in our patient, we used a TMS protocol called cerebellar inhibition (CBI). The lack of CBI in our patient strongly suggests cerebellar involvement. According to our findings, cerebellar syndrome may be part of the phenotypical spectrum of DYT-THAP1 mutations.

摘要

DYT-THAP1 型肌张力障碍已知表现出多种临床症状。据我们所知，这是首例使用经颅磁刺激活体研究 DYT-THAP1 型肌张力障碍和小脑受累的临床体征的病例。我们报告了一例 51 岁男性 DYT-THAP1 突变携带者，患有肌张力障碍，此外，他在 1.5 年前还出现了共济失调。为了研究我们患者的小脑受累情况，我们使用了一种称为小脑抑制 (CBI) 的 TMS 方案。我们患者的 CBI 缺乏强烈提示小脑受累。根据我们的发现，小脑综合征可能是 DYT-THAP1 突变表型谱的一部分。