Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1)
The current study expands both the clinical and mutation spectrum of the TDP1 associated spinocerebellar ataxia with axonal neuropathy type 1 and increases the body of evidence that supports the pathogenic role of TDP1 in cerebellar ataxias with peripheral neuropathy.
Authors
- Muhammad Naeem (ORCID: https://orcid.org/0000-0002-3894-3085)
- Riaz Ahmad (ORCID: https://orcid.org/0000-0002-8377-6431)
- Henry Houlden (ORCID: https://orcid.org/0000-0002-2866-7777)
- Filza Sayyad
Institutions
- Quaid-i-Azam University (PK)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
Publication Details
- Journal
- Molecular Biology Reports
- Published
- 2024-11-22
- DOI
- https://doi.org/10.1007/s11033-024-10085-8
- Citations
- 3
- Primary Topic
- Cancer therapeutics and mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.70
Funders
- University College London
- Higher Education Commision, Pakistan