Longitudinal multimodal assessment of peripheral nerve involvement in wild-type transthyretin amyloidosis.
VEA, K., J, W., A, H., M, U., P, S., G, P., A, F., WN, L., & CGC, H. (2026). Longitudinal multimodal assessment of peripheral nerve involvement in wild-type transthyretin amyloidosis.. Journal of neurology. https://doi.org/10.1007/s00415-026-14066-8
VEA K, J W, A H, M U, P S, G P, et al. Longitudinal multimodal assessment of peripheral nerve involvement in wild-type transthyretin amyloidosis.. Journal of neurology. 2026; doi: 10.1007/s00415-026-14066-8
VEA K, J W, A H, et al. Longitudinal multimodal assessment of peripheral nerve involvement in wild-type transthyretin amyloidosis.[J]. Journal of neurology. 2026. DOI: 10.1007/s00415-026-14066-8.
@article{vea2026,
author = {Kleinveld VEA and Wanschitz J and Hotter A and Ungericht M and Sanders P and Pölzl G and Fanciulli A and Löscher WN and Horlings CGC},
title = {Longitudinal multimodal assessment of peripheral nerve involvement in wild-type transthyretin amyloidosis.},
journal = {Journal of neurology},
year = {2026},
doi = {10.1007/s00415-026-14066-8},
note = {PMID: 42642613},
}
TY - JOUR AU - Kleinveld VEA AU - Wanschitz J AU - Hotter A AU - Ungericht M AU - Sanders P AU - Pölzl G AU - Fanciulli A AU - Löscher WN AU - Horlings CGC TI - Longitudinal multimodal assessment of peripheral nerve involvement in wild-type transthyretin amyloidosis. T2 - Journal of neurology PY - 2026 DO - 10.1007/s00415-026-14066-8 AN - PMID:42642613 ER -
INTRODUCTION: Wild-type transthyretin amyloidosis (ATTRwt) is a progressive disease marked by extracellular transthyretin amyloid deposition, predominantly causing cardiomyopathy. Neurological manifestations are known in hereditary ATTR but remain comparatively understudied in ATTRwt. METHODS: Patients with ATTRwt cardiomyopathy were prospectively evaluated at baseline and after 1 year, alongside healthy controls. Neurological assessment included Neuropathy Impairment Score Lower Limb (NIS-LL), nerve conduction studies, quantitative sensory testing (QST), serum neurofilament light chain (sNfL), and intra-epidermal nerve fiber density (IENFD) from skin biopsies. Symptoms and fatigue were assessed using Norfolk-QoL-DN and Chalder Fatigue scale. RESULTS: Twenty-three patients were included and compared to controls. Pathological IENFD occurred in 47.8% of patients vs. 4.3% of controls (p=0.002). In ATTRwt, except cold detection, all QST parameters were abnormal. Sensory-predominant axonal polyneuropathy was present in 82.6%, with higher NIS-LL and symptom burden (p<0.001). sNfL levels were similar between groups. Carpal tunnel syndrome was frequent (82.7%). Polyneuropathy with CTS was more common in ATTRwt (p=0.025). At follow-up, we observed no clinical or electrophysiological progression, and no newly diagnosed cases of polyneuropathy. CONCLUSIONS: ATTRwt is associated with mixed fiber neuropathy and frequent entrapment neuropathies which should raise suspicion for ATTRwt. We found subtle clinical progression over 13 months.