ArticleFrontiers in genetics2026
Clinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature review.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a progressive multisystem disorder caused by pathogenic Methods: We investigated two genetically confirmed Chinese patients with ATTRv-PN through comprehensive assessments, including electrophysiology, sural nerve biopsy, autonomic testing, cardiac imaging, neuroimaging, and cerebrospinal fluid analysis. Additionally, logistic regression was performed on 70 reported p.Val50Met cases to examine the relationship between age at onset and amyloid detection in sural nerve biopsies. Results: The two patients carried the p.Val50Met and p.Glu74Gly variants in the Conclusion: This study expands the clinical and genetic landscape of ATTRv-PN in China and highlighted the heterogeneity of amyloid detection in nerve biopsies. Accurate and timely diagnosis requires an integrated approach combining clinical, electrophysiological, pathological, genetic, and multimodal imaging assessments to facilitate early initiation of disease-modifying therapies.
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