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Updated: Apr 4, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Recent advances in familial amyloid polyneuropathy
1aBeth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA bRaúl Carrea Institute for Neurological Research, FLENI Ciudad Autónoma de Buenos Aires, Argentina.
Purpose Of Review:
To highlight the advances in the knowledge of the clinical features, diagnostic techniques, clinimetrics, and therapeutics of transthyretin familial amyloid polyneuropathy.
Recent Findings:
Expanding knowledge of the molecular underpinnings and therapeutics of transthyretin familial amyloid polyneuropathy have provided impetus to molecular-specific phenotype characterization, natural history studies, and target-based therapeutic interventions. These interventions have underscored the need for early, accurate diagnostic instruments and sensitive diagnostic and therapeutic biomarkers.
Summary:
Current and emerging target-based therapeutic interventions and novel diagnostic techniques may contribute to improved quality of life and survival in this disease.
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