The use of serum neurofilament light chain was investigated for the detection of neuronal damage prior to polyneuropathy development in carriers and patients with hereditary transthyretin amyloidosis. In carriers who developed polyneuropathy, serum neurofilament light chain increased prior to symptom onset.
Serum neurofilament light chain is a proposed biomarker for patients with hereditary transthyretin amyloid polyneuropathy. NfL correlates well with examination scores and disease severity, and increases over time with progression from asymptomatic to symptomatic disease.
Changes in axonal excitability may be useful as an early biomarker of disease progression that could guide treatment in patients with ATTRv-PN.
Analyses from an ongoing, international, observational registry show that transthyretin (ATTR) amyloidosis variants F64L, I107V, and S77Y are typically associated with a neurologic phenotype.
As the population of patients with ATTR-CA ages, it has become apparent that cardiologists need a more rapid frailty screening test to assess these patients. Maybe this is the one.
Recognizing musculoskeletal manifestations as potential early clues for transthyretin-mediated amyloidosis may be important for earlier diagnosis and initiation of appropriate management.