Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 26, 2020; 8(8): 1477-1488
Published online Apr 26, 2020. doi: 10.12998/wjcc.v8.i8.1477
Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature
Abdullah Al-Ajmi, Sarah Shamsah, Aleksandar Janicijevic, Michayla Williams, Fahd Al-Mulla
Abdullah Al-Ajmi, Neurology Unit, Al-Jahra Hospital, Jahra City 13110, Kuwait
Sarah Shamsah, Faculty of Allied Health Sciences, Kuwait University, Kuwait City 13110, Kuwait
Aleksandar Janicijevic, Department of Radiology, Al-Jahra Hospital, Jahra City 13110, Kuwait
Michayla Williams, Fahd Al-Mulla, Department of Genetics, Genatak Center for Genomic Medicine, Kuwait City 12000, Kuwait
Author contributions: Al-Ajmi A performed the physical examination, clinical assessment and EDX, collected clinical and workup data, and drafted the manuscript for intellectual content; Shamsah S interpreted the data and revised the manuscript for intellectual content; Janicijevic A performed and interpreted the radiological data and revised the manuscript for intellectual content; Williams M performed the genetic study and revised the manuscript for intellectual content; Al-Mulla F counseled the family designed, collected and analyzed NGS data, reviewed the literature, and drafted the manuscript. All authors issued final approval for the version to be submitted.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declared that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the curve checklist 2016 and the manuscript was prepared and revised according to the care checklist.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Fahd Al-Mulla, FRCPE, MBChB, PhD, Full Professor, Director, Department of Genetics, Genatak Center for Genomic Medicine, Mirqab, Kuwait City 12000, Kuwait. fahd@al-mulla.org
Received: December 17, 2019
Peer-review started: December 17, 2019
First decision: April 1, 2020
Revised: April 10, 2020
Accepted: April 18, 2020
Article in press: April 18, 2020
Published online: April 26, 2020
Processing time: 122 Days and 18.4 Hours
Core Tip

Core tip: Autosomal recessive spastic ataxia of charlevoix-saguenay has not been reported previously in the Arabian peninsula where the consanguinity rate is high. We present herein, the first family with autosomal recessive spastic ataxia of charlevoix-saguenay harboring a novel SACS gene frameshift pathogenic mutation and argue that the disease may be underdiagnosed due to the lack of proper laboratory-clinical integration. This case highlights the importance of integrating the next generation sequencing pipeline for optimal diagnosis of neurological disorders.