Familial amyloid polyneuropathy with marked hypertrophy of the peripheral nerves.
Autopsy findings in a 40-year-old male with heredofamilial amyloidosis and polyneuropathy are reported. He had been suffering from progressive autonomic as well as sensorimotor dysfunctions. Prominent amyloid deposit was found in the kidney, heart, thyroid, and testis, and less in the interstitium and small vessels of almost all organs. The peripheral nerves, some showing prominent hypertrophy, were most severely involved by amyloid deposit in a form of stellate mass, which ultrastructurally consisted of radially arranged amyloid filaments. In the hypertrophied nerves and ganglia, in addition to amyloid, massive accumulation of acid mucopolysaccharide (AMPS) was seen filling up the interstitial space, which was the cause of hypertrophy. Ultrastructurally, AMPS was seen as finely granular substance. An extracted amyloid from the kidney showed 8 nm filament on negative staining and was estimated of having a molecular weight of 14,000.
D000328:Adult; D000682:Amyloid / Q000378:metabolism*; D000686:Amyloidosis / Q000235:genetics* / Q000473:pathology; D006025:Glycosaminoglycans / Q000378:metabolism*; D006801:Humans; D006984:Hypertrophy; D008297:Male; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology*; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology
D000682:Amyloid; D006025:Glycosaminoglycans