![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 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](https://f6publishing.blob.core.windows.net/6ae1b7ea-ed49-4728-810a-2cc3f4b8578c/WJCC-8-1477-g001.png)
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
![Figure 2 from Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Clinical, Radiological and Epidemiological Aspects | Semantic Scholar Figure 2 from Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Clinical, Radiological and Epidemiological Aspects | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/07db456964438f93bd275e8ac43139d3773edf3c/4-Figure2-1.png)
Figure 2 from Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Clinical, Radiological and Epidemiological Aspects | Semantic Scholar
![Primary structure of the SACS gene (A) and domain organization of the... | Download Scientific Diagram Primary structure of the SACS gene (A) and domain organization of the... | Download Scientific Diagram](https://www.researchgate.net/publication/224830353/figure/fig2/AS:302759984287750@1449195013621/Primary-structure-of-the-SACS-gene-A-and-domain-organization-of-the-sacsin-protein-B.png)
Primary structure of the SACS gene (A) and domain organization of the... | Download Scientific Diagram
Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay | PLOS ONE
![Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-Saguenay | bioRxiv Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-Saguenay | bioRxiv](https://www.biorxiv.org/content/biorxiv/early/2021/03/17/2021.03.16.435646/F1.large.jpg)
Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-Saguenay | bioRxiv
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsinin Neurodegeneration
![i>SACS</i> mutation-positive autosomal recessive spastic ataxia of charlevoix saguenay (ARSACS) from Kerala i>SACS</i> mutation-positive autosomal recessive spastic ataxia of charlevoix saguenay (ARSACS) from Kerala](https://annalsofian.org/articles/2020/23/3/images/AnnIndianAcadNeurol_2020_23_3_374_282104_t3.jpg)
i>SACS</i> mutation-positive autosomal recessive spastic ataxia of charlevoix saguenay (ARSACS) from Kerala
![Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family - Palmio - 2016 - Clinical Case Reports - Wiley Online Library Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family - Palmio - 2016 - Clinical Case Reports - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/169aa831-f658-4fe2-8e5c-278828f9e41c/ccr3722-fig-0001-m.jpg)
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family - Palmio - 2016 - Clinical Case Reports - Wiley Online Library
![A The SACS gene contains ten exons and spans ~ 104 kb. Graphical view... | Download Scientific Diagram A The SACS gene contains ten exons and spans ~ 104 kb. Graphical view... | Download Scientific Diagram](https://www.researchgate.net/publication/361478399/figure/fig3/AS:1169964358742018@1655952648342/A-The-SACS-gene-contains-ten-exons-and-spans104kb-Graphical-view-of-the-Sacsin-protein.png)
A The SACS gene contains ten exons and spans ~ 104 kb. Graphical view... | Download Scientific Diagram
![Pharmaceuticals | Free Full-Text | Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review Pharmaceuticals | Free Full-Text | Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review](https://pub.mdpi-res.com/pharmaceuticals/pharmaceuticals-15-00764/article_deploy/html/images/pharmaceuticals-15-00764-g004.png?1655801383)
Pharmaceuticals | Free Full-Text | Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review
![SACS mutations. Graphical overview of mutations found in this and other... | Download Scientific Diagram SACS mutations. Graphical overview of mutations found in this and other... | Download Scientific Diagram](https://www.researchgate.net/publication/236052003/figure/fig1/AS:213424647741443@1427895809513/SACS-mutations-Graphical-overview-of-mutations-found-in-this-and-other-studies-Human.png)
SACS mutations. Graphical overview of mutations found in this and other... | Download Scientific Diagram
![A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay | European Journal of Human Genetics A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay | European Journal of Human Genetics](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fejhg.2008.58/MediaObjects/41431_2008_Article_BFejhg200858_Fig2_HTML.jpg)
A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay | European Journal of Human Genetics
![Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Compound Heterozygotes for Nonsense Mutations of the SACS Gene - Vinodh Narayanan, Stephen G. Rice, Shannon S. Olfers, Kumaraswamy Sivakumar, 2011 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Compound Heterozygotes for Nonsense Mutations of the SACS Gene - Vinodh Narayanan, Stephen G. Rice, Shannon S. Olfers, Kumaraswamy Sivakumar, 2011](https://journals.sagepub.com/cms/10.1177/0883073811412825/asset/images/large/10.1177_0883073811412825-fig3.jpeg)