Eleonora Galosi, Rocco Costanzo, Francesca Forcina, Stefania Morino, Giovanni Antonini, Marco Salvetti, Antonio Lauletta, Marco Luigetti, Angela Romano, Guido Primiano, Valeria Guglielmino, Laura Fionda, Matteo Garibaldi, Nicoletta Esposito, Pietro Falco, Giuseppe di Pietro, Andrea Truini, Luca Leonardi
BACKGROUND: Recent evidence suggests that both serum neurofilament light chain (sNfL) levels and small fiber related diagnostic variables may be valuable disease biomarkers of hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). Our study aimed to explore the relations between sNfL and small fiber related skin biopsy and quantitative sensory testing (QST) parameters in a cohort of ATTRv-PN patients and pre-symptomatic carriers. METHODS: We retrospectively analyzed data from 13 ATTRv patients and 21 pre-symptomatic carriers who underwent sNfL dosage, skin biopsy, and QST, and analyzed correlations between sNFL, intraepidermal nerve fiber density (IENFD), and cold (CDT) and warm detection thresholds (WDT)...
May 3, 2024: Neurological Sciences