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Finnish type amyloidosis; amyloidosis type 5; Meretoja type amyloidosis
Pathology: generalized amyloid deposition
Genetics: associated with mutations in gene for gelsolin
Clinical manifestations:
- cranial neuropathy
- facial paresis
- bulbar palsy
- peripheral polyneuropathy, particularly loss of vibration & touch
- autonomic dysfunction does not occur
- lattice corneal dystrophy
- nephrotic syndrome
- renal failure
- cardiomyopathy
- cutis laxa
- most patients have modest involvement of internal organs
Related
gelsolin; actin-depolymerizing factor; ADF; brevin; AGEL (GSN)
General
amyloidosis
genetic disease of the peripheral nervous system
Properties
PROTEIN-PRECURSOR: gelsolin
Database Correlations
OMIM 105120
References
OMIM 105120