Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Finnish type Amyloidosis

Finnish type Amyloidosis is an autosomal dominant disorder caused by mutations of the GSN gene.

Systematic

Hereditary amyloidosis
ATTR amyloidosis
Amyloidosis, cerebroarterial
Cryopyrin-associated periodic syndrome
Familial mediterranean fever
Finnish type Amyloidosis
GSN
Hereditary renal amyloidosis

References:

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 mutationat codon 187in 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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Update: Sept. 26, 2018