Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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
Familiäres Mittelmeerfieber
Muckle-Wells-Syndrom
Nierenamyloidose
Zerebroarterielle Amyloidose

Referenzen:

1.

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

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2.

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

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3.

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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4.

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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5.

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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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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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15.

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

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16.

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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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

None (2001) Clinical review 122: Parathyroid carcinoma.

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23.

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

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