扩展与突变相关的表型谱：一例肌张力障碍病例
Extending the Phenotypic Spectrum Associated with Mutations: A Case of Dystonia.
作者信息
Olszewska Diana A, Kinsella Justin A
机构信息
Department of Neurology Dublin Neurological Institute at the Mater Misericordiae University Hospital Dublin Ireland.
Department of Neurology St. Vincent's University Hospital Dublin Ireland.
出版信息
Mov Disord Clin Pract. 2020 Mar 9;7(3):318-324. doi: 10.1002/mdc3.12914. eCollection 2020 Apr.
Abstract
BACKGROUND
Mutations in the STIP1 homology and U-box containing protein 1 gene were first described in 2013 and lead to disorders with symptoms including ataxia and dysarthria, such as spinocerebellar autosomal-recessive ataxia type 16 (SCAR16), Gordon-Holmes syndrome, and spinocerebellar ataxia type 48. There have been 15 families described to date with SCAR16.
CASES
We describe a 45-year-old right-handed woman with dysarthria, ataxia, and cervical dystonia with SCAR16 with 2 compound heterozygous variants in the STIP1 homology and U-box containing protein 1 gene, and a family history significant for her 47-year-old sister with dysarthria and cognitive problems.
CONCLUSION
We present a comprehensive overview of the phenotypic data of all 15 families with SCAR16 and expand the phenotype by describing a third patient with SCAR16 and dystonia reported to date in the literature.
摘要
背景
含STIP1同源结构域和U盒蛋白1基因的突变于2013年首次被描述，可导致共济失调和构音障碍等症状的疾病，如16型常染色体隐性遗传性脊髓小脑共济失调（SCAR16）、戈登 - 霍姆斯综合征和48型脊髓小脑共济失调。迄今为止，已有15个家庭被描述患有SCAR16。
病例
我们描述了一名45岁右利手女性，患有构音障碍、共济失调和颈部肌张力障碍，诊断为SCAR16，其含STIP1同源结构域和U盒蛋白1基因存在2种复合杂合变异，并且其家族史显示她47岁的姐姐有构音障碍和认知问题。
结论
我们全面概述了所有15个患有SCAR16家庭的表型数据，并通过描述文献中迄今为止报道的第三例患有SCAR16和肌张力障碍的患者来扩展了该疾病的表型。
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