{Reference Type}: Journal Article
{Title}: Serum neurofilament light chain in hereditary transthyretin amyloidosis: validation in real-life practice.
{Author}: Carroll AS;Razvi Y;O'Donnell L;Veleva E;Heslegrave A;Zetterberg H;Vucic S;Kiernan MC;Rossor AM;Gillmore JD;Reilly MM;
{Journal}: Amyloid
{Volume}: 31
{Issue}: 2
{Year}: 2024 Jun 13
{Factor}: 6.571
{DOI}: 10.1080/13506129.2024.2313218
{Abstract}: <B>UNASSIGNED: </B>Neurofilament light chain (NfL) has emerged as a sensitive biomarker in hereditary transthyretin amyloid polyneuropathy (ATTRv-PN). We hypothesise that NfL can identify conversion of gene carriers to symptomatic disease, and guide treatment approaches.<BR><B>UNASSIGNED: </B>Serum NfL concentration was measured longitudinally (2015-2022) in 59 presymptomatic and symptomatic ATTR variant carriers. Correlations between NfL and demographics, biochemistry and staging scores were performed as well as longitudinal changes pre- and post-treatment, and in asymptomatic and symptomatic cohorts. Receiver-operating analyses were performed to determine cut-off values.<BR><B>UNASSIGNED: </B>NfL levels correlated with examination scores (CMTNS, NIS and MRC; all p < .01) and increased with disease severity (PND and FAP; all p < .05). NfL was higher in symptomatic and sensorimotor converters, than asymptomatic or sensory converters irrespective of time (all p < .001). Symptomatic or sensorimotor converters were discriminated from asymptomatic patients by NfL concentrations >64.5 pg/ml (sensitivity= 91.9%, specificity = 88.5%), whereas asymptomatic patients could only be discriminated from sensory or sensorimotor converters or symptomatic individuals by a NfL concentration >88.9 pg/ml (sensitivity = 62.9%, specificity = 96.2%) However, an NfL increment of 17% over 6 months could discriminate asymptomatic from sensory or sensorimotor converters (sensitivity = 88.9%, specificity = 80.0%). NfL reduced with treatment by 36%/year and correlated with TTR suppression (r = 0.64, p = .008).<BR><B>UNASSIGNED: </B>This data validates the use of serum NfL to identify conversion to symptomatic disease in ATTRv-PN. NfL levels can guide assessment of disease progression and response to therapies.