A treatable case of hereditary transthyretin amyloidosis with polyneuropathy masquerading as motor neuron disease

Abstract

Hereditary transthyretin amyloidosis is a progressive, life-threatening disease that typically presents as length-dependent symmetric axonal sensorimotor polyneuropathy, restrictive cardiomyopathy, or a combination of both. In this case report, we describe a 50-year-old gentleman with a rare motor phenotypic variant of hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) masquerading as motor neuron disease. This case represents the first reported association between the motor phenotypic variants of hATTR-PN and mutations involving p.Ala117Ser, a mutation prevalent in the Chinese population.