Contributor: Gordon K. Klintworth
Meretoja type amyloidosis (familial amyloid polyneuropathy type V, mutant gelsolin amyloidosis, Finnish type amyloidosis, amyloid cranial neuropathy with lattice corneal dystrophy, lattice corneal dystrophy type II, amyloidosis due to mutant gelsolin, OMIM #105120) is a type of inherited systemic amyloidosis caused by a mutation in the GSN gene. This autosomal dominant disorder manifests with a neuropathy of certain cranial nerves. A facial palsy can cause an inability to control a drooping lower lip, which becomes inverted exposing the gingival mucosa. The cornea is involved [lattice corneal dystrophy type II]. Cardiac and renal involvement occurs and the disease can cause the nephrotic syndrome and renal failure. Cutis laxa is often prominent. The amyloid has been identified as a 71-amino acid long fragment (7-12 kDa) of gelsolin with an asparagine at codon 187 instead of aspartic acid. The same mutation has been found in American and Finnish families.