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Amyloidose vom Finnischen Typ

Die Amyloidose vom Finnischen Typ ist eine autosomal dominante Erkrankung, die durch Mutationen im GSN-Gen hervorgerufen wird.

Gliederung

Hereditäre Amyloidose
ATTR-Amyloidose
Amyloidose vom Finnischen Typ
GSN
Cryopyrin-assoziiertes periodisches Fieber-Syndrom
Familiäres Mittelmeerfieber
Nierenamyloidose
Zerebroarterielle Amyloidose

Referenzen:

1.

Haltia M et al. (1992) Gelsolin gene mutationat codon 187in familial amyloidosis, Finnish: DNA-diagnostic assay.

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2.

Weinstein LS et al. (2003) HRPT2, a marker of parathyroid cancer.

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3.

None (2001) Clinical review 122: Parathyroid carcinoma.

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4.

Wang CA et al. (1985) Natural history of parathyroid carcinoma. Diagnosis, treatment, and results.

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5.

Akiya S et al. (1996) Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV.

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6.

Kiuru S et al. (1994) Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF).

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7.

Winkelman JE et al. (1971) [An hereditary syndrome consisting of peripheral polyneuropathy, skin changes and lattice-shaped corneal dystrophy].

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8.

Darras BT et al. (1986) Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.

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9.

Meretoja J et al. (1978) Partial characterization of amyloid proteins in inherited amyloidosis with lattice corneal dystrophy and in secondary amyloidosis.

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10.

Boysen G et al. (1979) Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.

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11.

Starck T et al. (1991) Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome).

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12.

None (1992) Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients.

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13.

Shattuck TM et al. (2003) Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.

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14.

None (1993) Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin.

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15.

Sack GH et al. (1981) Three forms of dominant amyloid neuropathy.

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16.

Purcell JJ et al. (1983) Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome).

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17.

None (1973) Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy.

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18.

Maury CP et al. (1990) Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.

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19.

Haltia M et al. (1990) Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.

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20.

Maury CP et al. (1990) Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline.

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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.

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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.

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23.

Sipilä K et al. (2002) Database for the mutations of the Finnish disease heritage.

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24.

OMIM.ORG article

Omim 105120 external link
25.

Orphanet article

Orphanet ID 85448 external link
Update: 14. August 2020
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