Correlation between neuropathy severity and neurofilament light chain levels in Brazilian patients with hereditary transthyretin amyloidosis

Hereditary transthyretin amyloidosis (ATTRv) is a genetic disorder caused by more than 100 autosomal dominant mutations in the TTR gene. Owing to its marked clinical heterogeneity—particularly in its cardiac manifestations—ATTRv is frequently underdiagnosed and requires comprehensive clinical evaluation. The disease commonly presents as a progressive axonal sensorimotor polyneuropathy with autonomic involvement.