Early nerve damage seen in woman with rare TTR mutation

Neuropathy followed by heart damage points to hATTR

A rare mutation in the TTR gene — mutations in which are the cause of hereditary transthyretin amyloidosis (hATTR) — resulted in early, progressive neurological symptoms that were followed by heart damage manifestations in a 54-year-old woman, a study showed.

The findings suggest that “progressive neuropathy [nerve damage] followed by cardiomyopathy [heart damage] may represent key clinical features associated with p.Asp58Val hereditary transthyretin amyloidosis,” a particularly rare mutation, the researchers wrote.