ArticleFrontiers in neurology2026
Early neuro biomarker changes and electrophysiological nerve dysfunction in Swedish V50M hereditary transthyretin amyloidosis: a pilot study.
Article in Frontiers in neurology, 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: This exploratory pilot study aimed to evaluate serum levels of neurofilament light chain (NfL), peripherin (PRPH), and glial fibrillary acidic protein (GFAP), and to explore their potential associations with nerve conduction studies (NCS) and nerve ultrasound (NUS) in a Swedish cohort of newly diagnosed patients with V50M transthyretin (TTR) amyloidosis (ATTRv). Materials and methods: Seventeen V50M-ATTRv patients exhibiting varying initial clinical symptoms were included for NCS, NUS, and blood analyses of NfL, PRPH, and GFAP. Results: V50M-ATTRv patients had a short disease duration (median, 7 months) and predominantly (52.9%) presented with self-reported neuropathic clinical symptoms at disease onset. Sixteen had recently initiated TTR-stabilizing therapy, whereas one remained untreated. Overall, NfL levels were significantly higher in patients than in age-matched controls ( Conclusion: In this pilot cohort of newly diagnosed Swedish V50M-ATTR patients, NfL was associated with electrophysiological measures of axonal dysfunction, whereas PRPH showed an exploratory signal of interest in younger patients with early disease onset. Larger longitudinal studies are required to determine whether PRPH may serve as a complementary biomarker for the early detection and monitoring of peripheral nerve involvement in ATTRv. Given the pilot design and limited sample size, the subgroup and regression findings should be considered exploratory and hypothesis-generating.
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