Cardiomyopathy and peripheral polyneuropathy severity in patients with Glu89Gln mutation at the time of diagnosis

Patients and methods We evaluated forty consecutive ATTR patients with Glu89Gln mutation, assessing cardiac and peripheral polyneuropathy involvement 18 male, 22 female at a mean age of 57.6±6,7 years. A clinical examination, 12–channel ECG, conventional 2D, Doppler and tissue Doppler echocardiography were performed. A comprehensive clinical neurological assessment was performed, defining the stage of neurological disability according to Familial Amyloidotic Polyneuropathy scale. The routine neurological assessment consisted of evaluating the reflexes, sensation (touch pressure, pin-prick, vibration, joint position) andmuscle weakness.