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- Mixed Movement Disorder in a Patient With a Novel Biallelic KCNMA1 Splice-Site Variant: Expanding the Genotype–Phenotype Correlation
- Madathum Kuzhiyil Farsana, Vikram V. Holla, Mit Ankur Raval, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
- J Mov Disord. 2026;19(3):330-333. Published online February 23, 2026
- DOI: https://doi.org/10.14802/jmd.25336
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Brief communication
- 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
- Mit Ankur Raval, Vikram V Holla, Nitish Kamble, Gautham Arunachal, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal
- J Mov Disord. 2024;17(4):430-435. Published online August 29, 2024
- DOI: https://doi.org/10.14802/jmd.24154
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Abstract
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Supplementary Material - Objective
In this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix–Saguenay (ARSACS).
Methods
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.
Results
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.
Conclusion
Our series adds to the previously reported cases of ARSACS from India and expands the genetic spectrum by adding 6 novel variants. -
Citations
Citations to this article as recorded by
- Peripheral Neuropathy-Predominant Adult-Onset Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Novel Variant in the SACS gene
Anil Dash, Farsana Mustafa, Ayush Agarwal, Divyani Garg, Awadh K Pandit, Achal K Srivastava, Divya M Radhakrishnan
Annals of Indian Academy of Neurology.2026; 29(2): 305. CrossRef - The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS
Vincenzo Sortino, Annamaria Sapuppo, Anastasia Bernabini, Xena Giada Pappalardo, Raffaele Falsaperla, Gabriele Di Pasquale, Vincenzo Salpietro
Neurogenetics.2026;[Epub] CrossRef
- Peripheral Neuropathy-Predominant Adult-Onset Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Novel Variant in the SACS gene
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