Holla Vikram V, Surisetti Bharath Kumar, Prasad Shweta, Pal Pramod Kumar
Department of Neurology, National Institute of Mental Health & Neurosciences, Hosur Road, Bengaluru, 560029, Karnataka, India.
Department of Neurology, National Institute of Mental Health & Neurosciences, Hosur Road, Bengaluru, 560029, Karnataka, India; Department of Clinical Neurosciences, National Institute of Mental Health & Neurosciences, Hosur Road, Bengaluru, 560029, Karnataka, India.
Parkinsonism Relat Disord. 2021 Jun;87:22-24. doi: 10.1016/j.parkreldis.2021.04.014. Epub 2021 Apr 25.
Synaptic nuclear envelope protein-1 (SYNE1) related cerebellar ataxia also called ARCA1 or SCAR8, manifests as a relatively pure cerebellar ataxia or with additional neurological involvement. Dystonia is rarely seen in SYNE1 ataxia and to the best of our knowledge, there are only three reports of dystonia in patients with SYNE1 ataxia. This report describes a 22-year-old woman with chronic progressive spastic-ataxia of 3-year duration with additional focal dystonia of the right upper limb. Patient had cerebellar atrophy on MRI brain and a novel pathogenic homozygous variant in exon 74 of the SYNE1 gene (p.Gln4047Ter).
突触核被膜蛋白1（SYNE1）相关的小脑共济失调也称为ARCA1或SCAR8，表现为相对单纯的小脑共济失调或伴有其他神经系统受累。肌张力障碍在SYNE1共济失调中很少见，据我们所知，SYNE1共济失调患者中仅有3例肌张力障碍的报道。本报告描述了一名22岁女性，患有持续3年的慢性进行性痉挛性共济失调，并伴有右上肢局灶性肌张力障碍。患者脑部MRI显示小脑萎缩，且在SYNE1基因第74外显子存在一个新的致病性纯合变异（p.Gln4047Ter）。
