Frontiers in neurology
Case Report: Hereditary transthyretin amyloidosis in a Chinese family with the transthyretin variant p.Y89H
By Zhao F, Xiao Y, Li Y and 3 others.
Abstract
Background
Hereditary transthyretin amyloidosis (hATTR) is a rare, life-threatening multisystem disorder caused by pathogenic variants in the transthyretin (TTR) gene. Its clinical manifestations are highly heterogeneous, frequently resulting in diagnostic delay or misdiagnosis.hATTR caused by the TTR p.Y89H variant is extremely rare and is associated with a phenotype characterized by predominant ocular and leptomeningeal involvement.
