Familial amyloidosis of the Finnish type (FAF)
- 1 October 1992
- journal article
- Published by Hindawi Limited in Acta Neurologica Scandinavica
- Vol. 86 (4) , 346-353
- https://doi.org/10.1111/j.1600-0404.1992.tb05099.x
Abstract
The clinical findings of familial amyloidosis of the Finnish type (FAF) were recorded in a series of 30 patients. The onset was in the 3rd or 4th decade with slow progression so that the majority was in good health still in the 7th decade. Decreased vision and corneal lattice dystrophy together with blepharochalasis were common. Signs of cranial neuropathy especially affecting the facial nerve were found in all and peripheral polyneuropathy mainly affecting the vibration and touch senses in 26 patients. Hypotrichosis, tongue and skin changes were also characteristic. Amyloid was found in all skin, sural nerve and muscle biopsies. FAF thus shows a triad of typical neurological, ophthalmological and dermatological manifestations distinct from other amyloidoses.Keywords
This publication has 24 references indexed in Scilit:
- Clinical and Histopathologic Studies of Two Families with Lattice Corneal Dystrophy and Familial Systemic Amyloidosis (Meretoja Syndrome)Ophthalmology, 1991
- Mutation in gelsolin gene in Finnish hereditary amyloidosis.The Journal of Experimental Medicine, 1990
- Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding proteinBiochemical and Biophysical Research Communications, 1990
- Finnish hereditary amyloidosisFEBS Letters, 1990
- Familial amyloidosis with cranial neuropathy and corneal lattice dystrophyNeurology, 1986
- Lattice Corneal Dystrophy Associated with Familial Systemic Amyloidosis (Meretoja's Syndrome)Ophthalmology, 1983
- Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.Journal of Neurology, Neurosurgery & Psychiatry, 1979
- Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathyClinical Genetics, 1973
- Comparative Histopathological and Clinical Findings in Eyes with Lattice Corneal Dystrophy of two Different TypesOphthalmologica, 1972
- HISTOPATHOLOGICAL FINDINGS OF FAMILIAL AMYLOIDOSIS WITH CRANIAL NEUROPATHY AS PRINCIPAL MANIFESTATIONActa Pathologica Microbiologica Scandinavica Section A Pathology, 1971