Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations
This study identified significant neurophysiological and ultrasound markers differentiating Val142Ile and Ser43Asn mutations in hATTR-PN patients. Increased nerve CSA and specific motor and sensory impairments highlight the need for comprehensive evaluations to guide diagnosis and treatment.
Authors
- Edicson Ruiz-Ospina
- Cristian Correa‐Arrieta (ORCID: https://orcid.org/0000-0002-8805-5051)
- Fernando Ortiz‐Corredor (ORCID: https://orcid.org/0000-0002-7427-3576)
- Jorge Arturo Díaz Ruíz (ORCID: https://orcid.org/0000-0001-7614-0809)
- Sandra Milena Castellar-Leones (ORCID: https://orcid.org/0000-0002-4559-2965)
- Xiomara Ruiz‐Cortés
- Diana Luzuriaga-Carpio
- Dario Zambrano-Vera
- Jeanneth Cedeño-Quincha
- Luis Guerrero-Cepeda
- Daniel César-Chávez
Institutions
- German Center for Neurodegenerative Diseases (DE)
- Universidad Nacional de Colombia (CO)
- VPDiagnostics (United States) (US)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-12-20
- DOI
- https://doi.org/10.1186/s13023-024-03496-0
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.00