Allelic Diversity, De Novo CAG Expansions and Intergenerational Instability at the HTT Locus in a Sample from India
Novel mutations at the HTT locus may not be rare in India. A lack of family history should not exclude appropriate testing. The prevalence of IA and incidence of <i>de novo</i> expansions suggest that there may be a reservoir of alleles prone to expansion.
Authors
- Ravi Yadav (ORCID: https://orcid.org/0000-0002-8016-9089)
- Swathi Lakshmi Pasupulati
- Sanjeev Jain (ORCID: https://orcid.org/0000-0002-9508-351X)
- Mathew Varghese (ORCID: https://orcid.org/0000-0001-5670-5710)
- Geetanjali Murari (ORCID: https://orcid.org/0000-0002-6940-7445)
- Biju Viswanath (ORCID: https://orcid.org/0000-0002-7317-1789)
- Nikhil Ratna (ORCID: https://orcid.org/0000-0002-0094-1236)
- Pramod Kumar Pal (ORCID: https://orcid.org/0000-0002-4085-2377)
- Meera Purushottam (ORCID: https://orcid.org/0000-0002-4000-268X)
- Sowmya Devatha Venkatesh (ORCID: https://orcid.org/0000-0002-9334-5520)
- Nitish Kamble
Institutions
- National Institute of Mental Health and Neurosciences (IN)
Publication Details
- Journal
- Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
- Published
- 2025-05-26
- DOI
- https://doi.org/10.1017/cjn.2025.10092
- Citations
- 2
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82