EP.107Transthyretin amyloidosis with variant Ile93Val mutation

Familial amyloid polyneuropathy (FAP) is a life-threatening disease transmitted as an autosomal dominant trait. FAP represents sensory-motor and autonomic neuropathy, carpal tunnel syndrome and cardiac phenotype. Transthyretin amyloidosis is the commonest form of FAP and has endemic distribution in Sweden, Portugal, Brazil, and Japan. A patient with features raising the possibility of familial amyloid polyneuropathy were referred to our clinic for clinical, imaging and laboratory evaluation. A 60-year-old woman was referred to neurology clinic for the evaluation of length-dependent tingling sensation and neuropathic pain in both legs.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: W. Kim, Y. La, Y. Choi Source Type: research