Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.
A 64-year-old woman had bilateral facial weakness, mild peripheral neuropathy, incoordination, and impaired balance. A corneal transplant had been performed for corneal lattice dystrophy. Sural nerve biopsy showed mild axonal neuropathy with deposits of amyloid in the perineurium. Histochemical studies showed amyloid protein AA in the nerve, but not in cornea or muscle.
D000328:Adult; D000368:Aged; D000686:Amyloidosis / Q000150:complications / Q000235:genetics*; D000818:Animals; D003315:Cornea / Q000276:immunology; D003317:Corneal Dystrophies, Hereditary / Q000150:complications*; D003389:Cranial Nerve Diseases / Q000150:complications*; D004594:Electrophysiology; D005155:Facial Nerve Diseases / Q000150:complications; D005260:Female; D006041:Goats; D006801:Humans; D007124:Immunoenzyme Techniques; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology