Moyamoya disease presenting with transient nonfocal neurological attacks in an Indian woman carrying a previously unreported RNF213 missense variant (p.Thr554Ile).

IF 1.6 4区 医学 Q3 CLINICAL NEUROLOGY
Ritwick Mondal, Shramana Deb, Nirmalya Ray, Sukalyan Purakayastha, Mona Tiwari, Julián Benito-León, Jayanta Roy
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引用次数: 0

Abstract

Moyamoya disease is a rare cerebrovascular disorder characterized by progressive internal carotid artery stenosis and compensatory collateral vessel formation, producing a characteristic "puff of smoke" angiographic appearance. Genetic predisposition, particularly involving the RNF213 gene, plays a central role. We report a 48-year-old Indian woman with type 2 diabetes, arterial hypertension, and a prior transient ischemic attack who presented with intermittent bilateral upper limb paresthesia. Imaging revealed bilateral supraclinoid internal carotid artery stenosis (Suzuki stage III). Genetic testing identified a heterozygous RNF213 missense variant (Thr554Ile, rs766831703), which is extremely rare in global databases and predicted to be deleterious by multiple in silico tools. This variant has not been previously described in association with Moyamoya disease. The patient underwent bilateral superficial temporal artery to middle cerebral artery bypass, achieving sustained clinical improvement without recurrent events over two years.

一名携带先前未报道的RNF213错义变体(p.s r554ile)的印度妇女的烟雾病表现为短暂的非局灶性神经发作。
烟雾病是一种罕见的脑血管疾病,其特征是进行性颈内动脉狭窄和代偿性侧支血管形成,产生特征性的“烟雾”血管造影表现。遗传易感性,特别是涉及RNF213基因,起着核心作用。我们报告了一位48岁的印度女性,她患有2型糖尿病、动脉高血压和先前的短暂性脑缺血发作,她表现为间歇性的双侧上肢感觉异常。影像学显示双侧颈内突上动脉狭窄(Suzuki III期)。基因检测鉴定出一种杂合RNF213错义变异(Thr554Ile, rs766831703),该变异在全球数据库中极为罕见,并被多种计算机工具预测为有害变异。这种变异以前未被描述与烟雾病有关。患者行双侧颞浅动脉至大脑中动脉搭桥术,两年内临床持续改善,无复发事件。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Neurogenetics
Neurogenetics 医学-临床神经学
CiteScore
3.90
自引率
0.00%
发文量
24
审稿时长
6 months
期刊介绍: Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.
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