Involvement of cranial nerves in ATTR Ile127Val amyloidosis.

The involvement of cranial nerves is rare in ATTR amyloidosis. However, involvement has occasionally been reported in the p.Val50Met variant, the most commonly studied worldwide.

Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis.

Amyloidosis, caused by a mutation in the transthyretin (TTR) gene, is the most common hereditary type disease. More than 120 mutations have been described, with extensive phenotypic heterogeneity. Val30Met (p.