Амілоїдоз ATTRV30M

Визначення(English summary)

A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.