Clinical, Radiological, and Genetic Profile of Patients with FA2H-Associated Neurodegeneration: Eight Cases from India and a Review of the Literature
Our study identifies novel variants associated with FA2H in FAHN patients, highlighting their possible roles in iron binding and in the loss of the transmembrane and catalytic domains.
Authors
- Babylakshmi Muthusamy (ORCID: https://orcid.org/0000-0002-2257-3630)
- Riyanka Kumari (ORCID: https://orcid.org/0000-0002-6550-8505)
- VikramVenkayappa Holla
- Jitender Saini
- Neeharika Sriram
- Ravi Yadav
- Pramod Kumar Pal
- Nitish Kamble
Institutions
- Manipal Academy of Higher Education (IN)
- Institute of Bioinformatics (IN)
- National Institute of Mental Health and Neurosciences (IN)
Publication Details
- Journal
- Tremor and Other Hyperkinetic Movements
- Published
- 2026-03-05
- DOI
- https://doi.org/10.5334/tohm.1162
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Indian Council of Medical Research