Olszewska Diana A, Kinsella Justin A
Department of Neurology Dublin Neurological Institute at the Mater Misericordiae University Hospital Dublin Ireland.
Department of Neurology St. Vincent's University Hospital Dublin Ireland.
Mov Disord Clin Pract. 2020 Mar 9;7(3):318-324. doi: 10.1002/mdc3.12914. eCollection 2020 Apr.
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.
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.
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.
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。
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。
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。
