ArticleJournal of movement disorders2024
Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: Insights From a Case Series of Seven Patients-A Single-Center Study and Review of an Indian Cohort.
Article in Journal of movement disorders, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS.Neurogenetics · 2026Article
- The isolated HEPN domain of SACSIN exhibits RNA-binding activity.Cellular and molecular life sciences : CMLS · 2026Article
- Peripheral Neuropathy-Predominant Adult-Onset Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Novel Variant in the SACS gene.Annals of Indian Academy of Neurology · 2026Article
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Authors and funding
8 authors.
Funding
Abstract
objectiveIn this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
methodsWe 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.
resultsAll 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.
conclusionOur 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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