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Updated: Oct 19, 2026
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Early neuro biomarker changes and electrophysiological nerve dysfunction in Swedish V50M hereditary transthyretin
Sandra Arvidsson1,2, Intissar Anan2, Malin Olsson2
1Department of Diagnostics and Intervention, Umea University, Umeå, Sweden.
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 (p < 0.001). This difference remained significant among older individuals (p < 0.001), but not among younger individuals (p = 0.071). Patients with an earlier age at disease onset had significantly higher PRPH levels compared with those with later disease onset (p = 0.030). Among younger individuals, PRPH levels were higher in patients compared with age-matched controls, but the difference was not significant (p = 0.200). NCS parameters showed significant associations with both NfL and PRPH, but no such associations were seen with GFAP. None of the neurobiomarkers demonstrated any associations with NUS.
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.
