[Hereditary gelsolin amyloidosis--40 years of Meretoja disease].
Hereditary gelsolin amyloidosis is an autosomally dominantly inherited systemic disease, first described in 1969 by the Finnish ophthalmologist Jouko Meretoja. The estimated number of disease carriers in Finland is almost 1 000, and the disease has subsequently been found in many other countries as well. It's typical initial manifestation is lattice corneal dystrophy, detected at biomicroscopic examination of the eye by the age of 25 to 30 years, followed by slowly progressing cranial neuropathy with bilateral facial palsy, polyneuropathy and generalized cutis laxa. Meretoja's disease is caused by mutations of the gelsolin gene, leading to the production and aberrant processing of variant gelsolin and deposition of its fragments in various tissues in the form of amyloid fibrils.
Kiuru-Enari
Sari
S
HYKS:n neurologian klinikka, neuromuskulaaritautien poliklinikka, PL 340, 00029 HUS.
Haltia
Matti
M
D028226:Amyloidosis, Familial / Q000235:genetics*; D002353:Carrier State; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D003483:Cutis Laxa / Q000235:genetics; D005158:Facial Paralysis / Q000235:genetics; D005387:Finland / Q000453:epidemiology; D018260:Gelsolin / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D011115:Polyneuropathies / Q000235:genetics; D013577:Syndrome
D018260:Gelsolin