Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families
The findings of this study expand the genotypic and phenotypic spectrum of HSPs and HCAs in Pakistan and emphasize the importance of utilizing exome/genome sequencing for accurate diagnosis or support accurate differential diagnosis. This approach can improve genetic counseling and clinical management, addressing the challenges of diagnosing neurodegenerative disorders in resource-limited settings.
Authors
- Shamim Saleha (ORCID: https://orcid.org/0000-0002-1332-0666)
- Arfa Azeem
- Nikol Voutsina (ORCID: https://orcid.org/0000-0002-1744-3989)
- Nishanka Ubeyratna
- Niamat Khan (ORCID: https://orcid.org/0000-0002-6615-6871)
- Lettie E. Rawlins (ORCID: https://orcid.org/0000-0002-6764-253X)
- Asif Naveed Ahmed
- Emma L. Baple (ORCID: https://orcid.org/0000-0002-6637-3411)
- Muhammad Yasin (ORCID: https://orcid.org/0009-0006-0493-5120)
- Irfan Ullah
- Andrew H Crosby
Institutions
- Kohat University of Science and Technology (PK)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Khyber Teaching Hospital (PK)
- Heavitree Hospital (GB)
- Exeter Hospital (GB)
Publication Details
- Journal
- BMC Neurology
- Published
- 2024-09-20
- DOI
- https://doi.org/10.1186/s12883-024-03855-1
- Citations
- 3
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.80
Funders
- Royal Devon and Exeter NHS Foundation Trust
- National Institute for Health and Care Research
- Department of Health and Social Care