Raval Mit Ankur, Holla Vikram V, Kamble Nitish, Arunachal Gautham, Muthusamy Babylakshmi, Saini Jitender, Yadav Ravi, Pal Pramod Kumar
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, India.
J Mov Disord. 2024 Oct;17(4):430-435. doi: 10.14802/jmd.24154. Epub 2024 Aug 29.
In this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
We performed a retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed the literature for reported cases of ARSACS from India.
All 7 patients experienced disease onset within the first decade of life. According to the available data, all patients 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 a thickened retinal nerve fiber layer (3/3). Exome sequencing revealed 8 unique pathogenic/likely pathogenic variants (6 novel) in the SACS gene. An 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.
Our series adds to the previously reported cases of ARSACS from India and expands the genetic spectrum by adding 6 novel variants.
在本研究中，我们描述了7例夏尔沃瓦-萨格奈常染色体隐性痉挛性共济失调（ARSACS）患者的临床和检查特征。
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，我们还查阅了印度报道的ARSACS病例的文献。
所有7例患者均在生命的第一个十年内发病。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）、典型的神经影像学表现（7/7）、感觉运动性脱髓鞘性多发性神经病（6/6）、异常诱发电位（5/5）以及视网膜神经纤维层增厚（3/3）。外显子组测序在SACS基因中发现了8个独特的致病/可能致病变异（6个为新变异）。从印度鉴定出的另外21例（18个家系）ARSACS病例有相似的临床和检查结果。最常见的c.8793delA变异可能存在奠基者效应。
我们的系列病例补充了印度先前报道的ARSACS病例，并通过增加6个新变异扩展了基因谱。
