Familial amyloid polyneuropathy: report of a family.
We report an Italian family affected by familial amyloid polyneuropathy. In two siblings, the diagnosis was confirmed by skin biopsy which revealed an unusual involvement of cutaneous nerves. Immunohistochemical studies confirmed the presence of prealbumin in the amyloid deposits.
Giangaspero
F
F
Salvi
F
F
Ceccarelli
C
C
Ambrosetto
G
G
Govoni
E
E
Tassinari
C A
CA
D000328:Adult; D000686:Amyloidosis / Q000235:genetics* / Q000473:pathology; D001706:Biopsy; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000294:innervation