Early neuro biomarker changes and electrophysiological nerve dysfunction in Swedish V50M hereditary transthyretin amyloidosis: a pilot study
- 1Department of Diagnostics and Intervention, Umea University , ,
- 2Department of Public Health and Clinical Medicine, Umea University , ,
- 3Department of Clinical Microbiology, Umea University , ,
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 ( 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.
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BibTeX
@article{arvidsson2026early,
title = {{Early neuro biomarker changes and electrophysiological nerve dysfunction in Swedish V50M hereditary transthyretin amyloidosis: a pilot study}},
author = {Sandra Arvidsson and Intissar Anan and Malin Olsson and Victoria Heldestad},
journal = {Frontiers in neurology},
year = {2026},
month = oct,
doi = {10.3389/fneur.2026.1943011},
url = {https://europepmc.org/article/PMC/PMC13672003},
note = {CC BY},
}
RIS
TY - JOUR
TI - Early neuro biomarker changes and electrophysiological nerve dysfunction in Swedish V50M hereditary transthyretin amyloidosis: a pilot study
AU - Sandra Arvidsson
AU - Intissar Anan
AU - Malin Olsson
AU - Victoria Heldestad
PY - 2026
DA - 2026/10/02
JO - Frontiers in neurology
DO - 10.3389/fneur.2026.1943011
UR - https://europepmc.org/article/PMC/PMC13672003
AB - 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.
SN - 1664-2295
ER -