伴有肌阵挛和垂直性核上性凝视麻痹的肌张力障碍与一种罕见的GNB1变异相关。

Dystonia with myoclonus and vertical supranuclear gaze palsy associated with a rare GNB1 variant.

作者信息

Reyes Nikolai Gil D, Di Luca Daniel G, McNiven Vanda, Lang Anthony E

机构信息

Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada.

Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada; Institute of Health Policy, Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.

出版信息

Parkinsonism Relat Disord. 2023 Jan;106:105239. doi: 10.1016/j.parkreldis.2022.105239. Epub 2022 Dec 9.

DOI:10.1016/j.parkreldis.2022.105239

PMID:36521323

Abstract

GNB1 encephalopathy (OMIM: 616973), caused by pathogenic variants in the GNB1 gene, is a rare neurodevelopmental syndrome characterized by global developmental delay (GDD) variably co-occurring with movement disorders. For the latter, dystonia, although the most frequent, remains uncommon. Other phenomenologies including myoclonus, tics, chorea, and ataxia, as well as oculomotor abnormalities are rare [1]. Most pathogenic variants in GNBI occur in exons 6 and 7, which are considered to be mutational hotspots [2]. Here, we report a case of GNB1 encephalopathy arising from a de novo mutation in a gene region with few reported pathogenic variants (i.e., exon 11) presenting with a unique phenotype consisting of dystonia with myoclonus and vertical supranuclear gaze palsy.

摘要

GNB1 脑病（OMIM：616973）由 GNB1 基因的致病变异引起，是一种罕见的神经发育综合征，其特征为全面发育迟缓（GDD），并伴有不同程度的运动障碍。就后者而言，肌张力障碍虽然最为常见，但仍不常见。包括肌阵挛、抽动、舞蹈症和共济失调在内的其他症状，以及动眼神经异常则较为罕见[1]。GNBI 中的大多数致病变异发生在外显子 6 和 7，这两个外显子被认为是突变热点[2]。在此，我们报告一例 GNB1 脑病病例，该病例源于一个报道的致病变异较少的基因区域（即外显子 11）的新发突变，表现为肌张力障碍伴肌阵挛和垂直性核上性凝视麻痹的独特表型。