Hereditary gelsolin amyloidosis

Hereditary gelsolin amyloidosis is a cutaneous condition inherited in an autosomal dominant fashion.[1][2]

The condition was first described in 1969, by the Finnish ophthalmologist Jouko Meretoja, and is also known as Familial amyloid neuropathy type IV, Meretoja syndrome, Hereditary amyloidosis, Finnish type.[3]

The disorder primarily associated with eye, skin and cranial nerve symptoms. It is a form of amyloidosis, where the amyloid complexes are formed from fragments of the protein gelsolin in the plasma, due to an mutation in the GSN gene (c.654G>A or c.654G>T).[4]

See also

References

  1. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
  2. ↑ Ghoshdastider U, Popp D, Burtnick LD, Robinson RC (2013). "The expanding superfamily of gelsolin homology domain proteins". Cytoskeleton (Hoboken) 70 (11): 775–95. doi:10.1002/cm.21149. PMID 24155256.
  3. ↑ http://www.socialstyrelsen.se/rarediseases/gelsolinamyloidosis
  4. ↑ http://www.socialstyrelsen.se/rarediseases/gelsolinamyloidosis
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