Die Amyloidose vom Finnischen Typ ist eine autosomal dominante Erkrankung, die durch Mutationen im GSN-Gen hervorgerufen wird.
Hereditäre Amyloidose | ||||
ATTR-Amyloidose | ||||
Amyloidose vom Finnischen Typ | ||||
GSN | ||||
Cryopyrin-assoziiertes periodisches Fieber-Syndrom | ||||
Familiäres Mittelmeerfieber | ||||
Nierenamyloidose | ||||
Zerebroarterielle Amyloidose | ||||
1. |
Haltia M et al. (1992) Gelsolin gene mutationat codon 187in familial amyloidosis, Finnish: DNA-diagnostic assay. |
2. |
Weinstein LS et al. (2003) HRPT2, a marker of parathyroid cancer. |
3. |
None (2001) Clinical review 122: Parathyroid carcinoma. |
4. |
Wang CA et al. (1985) Natural history of parathyroid carcinoma. Diagnosis, treatment, and results. |
5. |
Akiya S et al. (1996) Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV. |
6. |
Kiuru S et al. (1994) Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). |
7. |
Winkelman JE et al. (1971) [An hereditary syndrome consisting of peripheral polyneuropathy, skin changes and lattice-shaped corneal dystrophy]. |
8. |
Darras BT et al. (1986) Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. |
9. |
Meretoja J et al. (1978) Partial characterization of amyloid proteins in inherited amyloidosis with lattice corneal dystrophy and in secondary amyloidosis. |
10. |
Boysen G et al. (1979) Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. |
11. |
Starck T et al. (1991) Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome). |
12. |
None (1992) Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients. |
13. |
Shattuck TM et al. (2003) Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. |
14. |
None (1993) Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin. |
15. |
Sack GH et al. (1981) Three forms of dominant amyloid neuropathy. |
16. |
Purcell JJ et al. (1983) Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome). |
17. |
None (1973) Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. |
18. |
Maury CP et al. (1990) Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. |
19. |
Haltia M et al. (1990) Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. |
20. |
Maury CP et al. (1990) Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. |
21. |
de la Chapelle A et al. (1992) Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. |
22. |
Paunio T et al. (1992) Solid-phase minisequencing test reveals Asp187--Asn (G654--A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis. |
23. |
Sipilä K et al. (2002) Database for the mutations of the Finnish disease heritage. |
24. |
OMIM.ORG article Omim 105120 |
25. |
Orphanet article Orphanet ID 85448 |