泰国患者常染色体隐性痉挛性共济失调型脑白质营养不良（ARSACS）：经典临床表现、眼底特征及基因新突变的脑部影像学表现
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the Gene.
机构信息
Division of Neurology, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, TH.
Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, TH.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2020 Jun 8;10:1. doi: 10.5334/tohm.68.
BACKGROUND
A 38-year-old woman was diagnosed autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) with a novel pathogenic variant in the gene presented with gradually progressive spastic ataxia since the age of 2 years; then, she became wheelchair-bound at the age of 28 years.
PHENOMENOLOGY
The patient presented a combination of cerebellar dysfunctions e.g., gaze-evoked nystagmus, scanning speech, finger dysmetria, and wide-based gait, lower limb spasticity, and typical funduscopic examination which was a hypermyelinated nerve fibers radiating from the optic disc.
EDUCATIONAL VALUE
At present, ARSACS is recognized as a rare, worldwide, inherited movement disorder in which we should to aware of a diagnosis of this disorder in the patient who is presented with gene negative early-onset spastic ataxia.
背景
一名 38 岁女性被诊断为常染色体隐性痉挛性共济失调查尔洛夫-萨格奈（ARCSACS），携带基因中的新致病性变异，自 2 岁起逐渐出现痉挛性共济失调；随后，她在 28 岁时坐上了轮椅。
临床表现
患者表现出小脑功能障碍的组合，如眼球震颤、扫视言语、手指运动障碍和宽基底步态、下肢痉挛以及典型的眼底检查，即从视盘放射出的高髓鞘化神经纤维。
教育价值
目前，ARCSACS 被认为是一种罕见的、全球性的遗传性运动障碍，对于具有基因阴性的早发性痉挛性共济失调的患者，我们应该认识到这种疾病的诊断。
Zotero 插件