Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hereditäre Amyloidose

Die Gruppe der hereditären Amyloidosen fasst Erkrankungen mit Amyloidablagerungen in verschiedenen Organen zusammen. Bei Ablagerungen in viszeralen Organen, wie der Niere können vitale Funktionen gefährdet sein.

Einteilung

Die Einteilung der Amyloidosen erfolgt in hereditäre und erworbene Formen. Letztere können inflammatorisch oder neoplastisch verursacht sein. Unterschieden werden können ferner lokale und systemische Formen. Die klassische Einteilung der Amyloidosen folgt den biochemischen Eigenschaften der Fibrillen. Da diese Webseite nur hereditäre Formen behandelt liegen der Einteilung die verursachenden Gene zugrunde.

Gliederung

Erbliche metabolische Nierenerkrankungen
Hereditäre Amyloidose
ATTR-Amyloidose
TTR
Amyloidose vom Finnischen Typ
GSN
Familiäres Mittelmeerfieber
MEFV
NOD2
SAA1
TNFRSF1A
Muckle-Wells-Syndrom
NLRP3
Nierenamyloidose
APOA1
B2M
CST3
FGA
LYZ
Zerebroarterielle Amyloidose
Zerebroarterielle Amyloidose vom Britischen Typ
ITM2B
Zerebroarterielle Amyloidose vom Dänischen Typ
ITM2B
Zerebroarterielle Amyloidose vom Holländischen Typ
APP
Zerebroarterielle Amyloidose vom Isländischen Typ
CST3
Hyperoxalurie
Lysinurische Proteinintoleranz
Morbus Fabry

Referenzen:

1.

Glenner GG et al. (1984) Alzheimer's disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein.

[^]
2.

Lachmann HJ et al. (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

[^]
3.

Valleix S et al. (2012) Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.

[^]
4.

Davison AM et al. (1985) The United Kingdom Medical Research Council's glomerulonephritis registry.

[^]
5.

Benson MD et al. (1993) Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

[^]
6.

Uemichi T et al. (1994) Hereditary renal amyloidosis with a novel variant fibrinogen.

[^]
7.

Uemichi T et al. (1996) A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis.

[^]
8.

Hamidi Asl L et al. (1997) Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein.

[^]
9.

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

[^]
10.

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

[^]
11.

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.

[^]
12.

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.

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
18.

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

[^]
19.

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

[^]
20.

Granel B et al. (2005) Underdiagnosed amyloidosis: amyloidosis of lysozyme variant.

[^]
21.

Zalin AM et al. (1991) Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry.

[^]
22.

Pepys MB et al. (1993) Human lysozyme gene mutations cause hereditary systemic amyloidosis.

[^]
23.

Ceccherini I et al. (1994) Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis.

[^]
24.

Hofstra RM et al. (1996) RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia.

[^]
25.

Seri M et al. (1997) A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.

[^]
26.

Uemichi T et al. (1999) Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64.

[^]
27.

Hund E et al. (2001) Transthyretin-associated neuropathic amyloidosis. Pathogenesis and treatment.

[^]
28.

Saraiva MJ et al. (2001) Transthyretin mutations in hyperthyroxinemia and amyloid diseases.

[^]
29.

Ikeda S et al. (2002) Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity.

[^]
30.

Blevins G et al. (2003) Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.

[^]
31.

ANDRADE C et al. (1952) A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves.

[^]
32.

Jacobson DR et al. (1992) Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.

[^]
33.

KAUFMAN HE et al. (1959) Vitreous opacities diagnostic of familial primary amyloidosis.

[^]
34.

Ray SS et al. (2004) A possible therapeutic target for Lou Gehrig's disease.

[^]
35.

Sekijima Y et al. (2005) The biological and chemical basis for tissue-selective amyloid disease.

[^]
36.

Liu YT et al. (2008) Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression.

[^]
37.

Benson MD et al. (1991) Inherited amyloidosis.

[^]
38.

Benson MD et al. (1977) Generalized amyloid in a family of Swedish origin. A study of 426 family members in seven generations of a new kinship with neuropathy, nephropathy, and central nervous system involvement.

[^]
39.

Hagiwara K et al. (2009) Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr.

[^]
40.

Yang NC et al. (2010) Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser.

[^]
41.

Westermark P et al. (1990) Fibril in senile systemic amyloidosis is derived from normal transthyretin.

[^]
42.

Ikeda S et al. (1987) Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients.

[^]
43.

Sequeiros J et al. (1987) Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy-type I (Portuguese, Andrade).

[^]
44.

Uitti RJ et al. (1988) Familial oculoleptomeningeal amyloidosis. Report of a new family with unusual features.

[^]
45.

Holmgren G et al. (1988) Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy.

[^]
46.

Furuya H et al. (1987) Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.

[^]
47.

Mahloudji M et al. (1969) The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type).

[^]
48.

Wong VG et al. (1967) Primary familial amyloidosis.

[^]
49.

Saraiva MJ et al. (1984) Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin).

[^]
50.

Benson MD et al. (1981) Partial amino acid sequence homology between an heredofamilial amyloid protein and human plasma prealbumin.

[^]
51.

Dalakas MC et al. (1981) Amyloid in hereditary amyloid polyneuropathy is related to prealbumin.

[^]
52.

Goren H et al. (1980) Familial oculoleptomeningeal amyloidosis.

[^]
53.

Ducla-Soares J et al. (1994) Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type.

[^]
54.

Holmgren G et al. (1994) Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.

[^]
55.

Coelho T et al. (1994) A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.

[^]
56.

Drugge U et al. (1993) Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.

[^]
57.

Vidal R et al. (1996) Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G)

[^]
58.

Herrick MK et al. (1996) Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.

[^]
59.

Garzuly F et al. (1996) Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly)

[^]
60.

Jacobson DR et al. (1997) Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans.

[^]
61.

Petersen RB et al. (1997) Transthyretin amyloidosis: a new mutation associated with dementia.

[^]
62.

Koo EH et al. (1999) Amyloid diseases: abnormal protein aggregation in neurodegeneration.

[^]
63.

Altland K et al. (1999) Potential treatment of transthyretin-type amyloidoses by sulfite.

[^]
64.

Alexander F et al. (1975) Familial renal amyloidosis. Case reports, literature review and classification.

[^]
65.

Kyle RA et al. (2001) Amyloidosis: a convoluted story.

[^]
66.

Vella FS et al. (2002) Glaucoma in primary amyloidosis: a fortuitous or causative association?

[^]
67.

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

[^]
68.

SAGHER F et al. (1963) Amyloidosis cutis. Familial occurrence in three generations.

[^]
69.

MUNSAT TL et al. (1962) Clinical manifestations and diagnosis of amyloid polyneuropathy. Report of three cases.

[^]
70.

Reixach N et al. (2004) Tissue damage in the amyloidoses: Transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture.

[^]
71.

Koike H et al. (2004) Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy.

[^]
72.

Lin MW et al. (2005) Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23.

[^]
73.

Ando Y et al. (2005) Transthyretin-related familial amyloidotic polyneuropathy.

[^]
74.

Holmgren G et al. (1991) Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30).

[^]
75.

Sandgren O et al. (1991) Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study.

[^]
76.

Lee DD et al. (2006) Genome-wide scan identifies a susceptibility locus for familial primary cutaneous amyloidosis on chromosome 5p13.1-q11.2.

[^]
77.

Dowell JD et al. (2007) Familial oculoleptomeningeal amyloidosis associated with primary angiitis of the CNS.

[^]
78.

Arita K et al. (2008) Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.

[^]
79.

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

[^]
80.

Tanaka A et al. (2009) New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis.

[^]
81.

Lin MW et al. (2010) Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis.

[^]
82.

Yi S et al. (1991) Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met30) gene. Pathologic similarity to human familial amyloidotic polyneuropathy, type I.

[^]
83.

Okayama M et al. (1978) Primary amyloidosis with familial vitreous opacities: an unusual case and family.

[^]
84.

Bodin K et al. (2010) Antibodies to human serum amyloid P component eliminate visceral amyloid deposits.

[^]
85.

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

[^]
86.

Coelho T et al. (2013) Safety and efficacy of RNAi therapy for transthyretin amyloidosis.

[^]
87.

Costa PP et al. (1978) Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.

[^]
88.

Yamada M et al. (1987) "Sporadic" prealbumin-related amyloid polyneuropathy: report of two cases.

[^]
89.

Ueno S et al. (1988) 'Nonprealbumin-related' familial amyloid polyneuropathy.

[^]
90.

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

[^]
91.

et al. (1987) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 50-1987. A 43-year-old woman with hepatic failure after renal transplantation because of amyloidosis.

[^]
92.

Tanaka M et al. (1988) Familial amyloidotic polyneuropathy without familial occurrence: carrier detection by the radioimmunoassay of variant transthyretin.

[^]
93.

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

[^]
94.

Newton JA et al. (1985) Familial primary cutaneous amyloidosis.

[^]
95.

Glenner GG et al. (1971) Amyloid fibril proteins: proof of homology with immunoglobulin light chains by sequence analyses.

[^]
96.

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

[^]
97.

Coimbra A et al. (1971) Familial amyloid polyneuropathy: an electron microscope study of the peripheral nerve in five cases. I. Interstitial changes.

[^]
98.

Coimbra A et al. (1971) Familial amyloid polyneuropathy: an electron microscope study of the peripheral nerve in five cases. II. Nerve fibre changes.

[^]
99.

Glenner GG et al. (1974) Beta-pleated sheet fibrils. A comparison of native amyloid with synthetic protein fibrils.

[^]
100.

Weiss SW et al. (1973) Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells.

[^]
101.

Rajagopalan K et al. (1972) Familial lichen amyloidosis. Report of 19 cases in 4 generations of a Chinese family in Malaysia.

[^]
102.

Hamburg A et al. (1971) Unusual cause of vitreous opacities. Primary familial amyloidosis.

[^]
103.

Shanon J et al. (1970) Interscapular cutaneous amyloidosis.

[^]
104.

Libbey CA et al. (1984) Familial amyloid polyneuropathy. Demonstration of prealbumin in a kinship of German/English ancestry with onset in the seventh decade.

[^]
105.

Ozaki M et al. (1984) Familial lichen amyloidosis.

[^]
106.

De Pietro WP et al. (1981) Primary familial cutaneous amyloidosis. a study of HLA antigens in a Puerto Rican family.

[^]
107.

Cornwell GG et al. (1981) Senile cardiac amyloid: evidence that fibrils contain a protein immunologically related to prealbumin.

[^]
108.

Lanham JG et al. (1982) Familial amyloidosis of Ostertag.

[^]
109.

Mornaghi R et al. (1982) Familial renal amyloidosis: case reports and genetic studies.

[^]
110.

Mornaghi R et al. (1981) Studies on the pathogenesis of a familial form of renal amyloidosis.

[^]
111.

Ando Y et al. (1995) Change in variant transthyretin levels in patients with familial amyloidotic polyneuropathy type I following liver transplantation.

[^]
112.

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

[^]
113.

Ando Y et al. (1994) Role of nitric oxide in the peripheral vessels of patients with familial amyloidotic polyneuropathy (FAP) type I.

[^]
114.

Holmgren G et al. (1993) Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis.

[^]
115.

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

[^]
116.

Lee DD et al. (1996) Genetic heterogeneity of familial primary cutaneous amyloidosis: lack of evidence for linkage with the chromosome 10 pericentromeric region in Chinese families.

[^]
117.

Eng AM et al. (1976) Familial generalized dyschromic amyloidosis cutis.

[^]