<scp><i>MFSD8</i></scp>‐Related <scp>CLN7</scp> Disease with Adult‐Onset Cerebellar Ataxia: A Five‐Patient Case Series
These findings expand MFSD8-related CLN7 disease to include adult-onset isolated ataxia and support inclusion of MFSD8 in adult ataxia gene panels, particularly in South Asian populations.
Authors
- Divyani Garg (ORCID: https://orcid.org/0000-0003-0532-3370)
- Achal Kumar Srivastava (ORCID: https://orcid.org/0000-0002-4590-7947)
- Ajay Kumar Garg (ORCID: https://orcid.org/0000-0002-9385-291X)
- Akhilesh Kumar Sonakar
- S. K. Reza (ORCID: https://orcid.org/0000-0002-1035-5986)
- Kriti Kashyap
- Mohammed Faruq (ORCID: https://orcid.org/0000-0001-8278-8396)
- Ayush Agarwal (ORCID: https://orcid.org/0000-0003-2303-1961)
- Jupita Handique
- Pooja Sharma (ORCID: https://orcid.org/0009-0008-1567-7942)
- Tiyasha De
Institutions
- University of Delhi (IN)
- Institute of Genomics and Integrative Biology (IN)
- St. Stephen’s Hospital (IN)
- All India Institute of Medical Sciences (IN)
- Academy of Scientific and Innovative Research (IN)
Publication Details
- Journal
- Movement Disorders Clinical Practice
- Published
- 2025-10-04
- DOI
- https://doi.org/10.1002/mdc3.70383
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00