Journey through ARSACS: Insights from a case series of seven patients - A single centre study and review of Indian cohort.

IF 2.5 4区医学 Q2 CLINICAL NEUROLOGY Journal of Movement Disorders Pub Date : 2024-08-29 DOI:10.14802/jmd.24154

Mit Ankur Raval, Vikram V Holla, Nitish Kamble, Gautham Arunachal, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal

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Abstract

Background: In this study we describe the clinical, and investigations profile of 7 cases of autosomal-recessive spastic-ataxia of Charlevoix-Saguenay (ARSACS).

Methods: We performed retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed literature for reported cases of ARSACS from India.

Result: All seven patients had onset within the first-decade. As per the available data, all had walking difficulty (7/7), spastic-ataxia (7/7), classical neuroimaging findings (7/7), sensory-motor demyelinating polyneuropathy (6/6), abnormal evoked-potentials (5/5) and thickened retinal nerve fiber layer (3/3). Exome sequencing revealed 8 pathogenic/likely-pathogenic unique variants (6 novel) in SACS gene. Additional 21 cases (18 families) of ARSACS that could be identified from India had similar clinical and investigational findings. The most common c.8793delA variant may have a founder effect.

Conclusion: Our series adds to the previously reported cases of ARSACS from India and expands the genetic spectrum by adding 6 novel variants.

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ARSACS 之旅：从七名患者的系列病例中获得的启示--一项单一中心研究和印度队列回顾。

背景：在这项研究中，我们描述了7例常染色体隐性遗传的沙勒沃瓦-萨盖内痉挛性共济失调（ARSACS）患者的临床和检查情况：在这项研究中，我们描述了 7 例常染色体隐性遗传的沙勒沃瓦-萨古奈痉挛性共济失调（ARSACS）患者的临床和检查情况：我们对数据库中经基因证实的 ARSACS 病例进行了回顾性病历审查。此外，我们还查阅了印度有关 ARSACS 病例的文献：结果：所有七名患者均在最初十年内发病。根据现有数据，所有患者均有行走困难（7/7）、痉挛性共济失调（7/7）、典型神经影像学检查结果（7/7）、感觉运动脱髓鞘性多发性神经病（6/6）、诱发电位异常（5/5）和视网膜神经纤维层增厚（3/3）。外显子组测序显示，SACS 基因存在 8 个致病/可能致病的独特变异（6 个新变异）。从印度找到的另外 21 例（18 个家庭）ARSACS 患者也有类似的临床和检查结果。最常见的c.8793delA变异可能具有创始人效应：我们的系列研究增加了之前报告的印度 ARSACS 病例，并通过增加 6 个新型变异体扩大了遗传谱。

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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