Clinical features of hereditary transthyretin amyloidosis-polyneuropathy with transthyretin Ala97Ser(p.Ala117Ser) mutation in South Mainland China
ATTRv-PN appears relatively rare in South Mainland China, with our study providing the largest cohort of Ala97Ser mutation cases to date. We found a significant founder effect by combining the clinical and demographic characteristics. That helps us understand the gene's transmission pathway and lays the foundation for carrier screening and tertiary prevention and control. We also propose a new scoring model and demonstrate that this model allows the profiling of different genotypes of ATTRv-PN, facilitating early clinical detection and diagnosis.
Authors
- Ruxu Zhang (ORCID: https://orcid.org/0000-0003-3823-8148)
- Haishan Jiang (ORCID: https://orcid.org/0000-0002-7388-8659)
- Yeli Zhu
- Jingxian Fan
- Xiying Zhu
- Zhihua Zhou (ORCID: https://orcid.org/0000-0002-7271-1755)
- Hui Zheng (ORCID: https://orcid.org/0000-0002-0622-4430)
- Wei Li (ORCID: https://orcid.org/0000-0002-7941-7022)
- Lingchao Meng
- Zhaoyong Zhang (ORCID: https://orcid.org/0000-0002-7322-7949)
Institutions
- Central South University (CN)
- Peking University (CN)
- First Affiliated Hospital of Guangdong Pharmaceutical University (CN)
- Peking University First Hospital (CN)
- Third Xiangya Hospital (CN)
- Southern Medical University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-04-28
- DOI
- https://doi.org/10.1186/s13023-025-03733-0
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Pfizer
- Peking University First Hospital
- Central South University
- Peking University
- Southern Medical University
- Nanfang Hospital
- Xiangya Hospital, Central South University