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
Our series adds to the previously reported cases of ARSACS from India and expands the genetic spectrum by adding 6 novel variants.
Authors
- Ravi Yadav (ORCID: https://orcid.org/0000-0002-8016-9089)
- Jitender S. Saini (ORCID: https://orcid.org/0000-0002-5218-0264)
- Nitish L. Kamble (ORCID: https://orcid.org/0000-0002-7933-8826)
- Babylakshmi Muthusamy (ORCID: https://orcid.org/0000-0002-2257-3630)
- Vikram Venkappayya Holla (ORCID: https://orcid.org/0000-0002-3634-2219)
- Pramod Kumar Pal (ORCID: https://orcid.org/0000-0002-4085-2377)
- Mit Ankur Raval
- Gautham Arunachal (ORCID: https://orcid.org/0000-0002-8565-1624)
Institutions
- Manipal Academy of Higher Education (IN)
- Institute of Bioinformatics (IN)
- National Institute of Mental Health and Neurosciences (IN)
- Kasturba Medical College, Manipal (IN)
Publication Details
- Journal
- Journal of Movement Disorders
- Published
- 2024-08-29
- DOI
- https://doi.org/10.14802/jmd.24154
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00