Abstract
Background: Hereditary transthyretin amyloidosis (ATTRv) is a treatable multisystem disorder with prevalent peripheral nervous system impairment. Besides neurophysiological measures, there are few markers to monitor disease progression. Neurofilament light chain (NfL) has recently been considered a sensitive biomarker for neuroaxonal damage in this setting. Objective: To evaluate NfL levels in a cohort of ATTRv patients and pre-symptomatic carriers and correlate the serum concentrations with other markers of disease severity. Methods: We analysed NfL serum from 17 ATTRv patients or carriers and 26 controls. An exhaustive clinical and instrumental evaluation was performed in all patients. Results: NfL levels were significantly higher in ATTRv cases when compared with controls. A significant correlation was found between NfL values and NIS scale, Sudoscan values from feet, interventricular septum thickness, and Quality of Life-Diabetic Neuropathy (Norfolk QoL-DN) questionnaire. Conclusion: We confirm that NfL is a reliable and promising biomarker to evaluate the ATTRv severity and monitor its progression.
| Lingua originale | English |
|---|---|
| pagine (da-a) | 2845-2848 |
| Numero di pagine | 4 |
| Rivista | Neurological Sciences |
| Volume | 43 |
| DOI | |
| Stato di pubblicazione | Pubblicato - 2022 |
Keywords
- Amyloid
- Amyloid Neuropathies, Familial
- Biomarker
- Biomarkers
- Humans
- Intermediate Filaments
- Neurofilament
- Neurofilament Proteins
- Progression
- Quality of Life
- Severity of Illness Index
- TTR
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