Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Zerebroarterielle Amyloidose vom Britischen Typ

Die zerebrale Amyloid-Angiopathie vom Britischen Typ ist eine autosomal dominante Erkrankung mit variabler Penetranz, die durch eine Mutation im ITM2B-Gen hervorgerufen wird.

Gliederung

Zerebroarterielle Amyloidose
Zerebroarterielle Amyloidose vom Britischen Typ
ITM2B
Zerebroarterielle Amyloidose vom Dänischen Typ
Zerebroarterielle Amyloidose vom Holländischen Typ
Zerebroarterielle Amyloidose vom Isländischen Typ

Referenzen:

1.

Gelfand EW et al. (1987) Inherited deficiency of properdin and C2 in a patient with recurrent bacteremia.

external link
2.

Greenberg SM et al. (1995) Apolipoprotein E epsilon 4 and cerebral hemorrhage associated with amyloid angiopathy.

external link
3.

Egan LJ et al. (1994) Hereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an Irish family using a novel haemolytic screening assay for complement activity and C7 M/N allotyping.

external link
4.

Clough JD et al. (1980) Familial late complement component (C6, C7) deficiency with chronic meningococcemia.

external link
5.

Wattendorff AR et al. (1982) Familial cerebral amyloid angiopathy presenting as recurrent cerebral haemorrhage.

external link
6.

Davis CA et al. (1980) Partial properdin deficiency.

external link
7.

Adams EM et al. (1983) Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis.

external link
8.

Strömgren E et al. (1970) Cataract, deafness, cerebellar ataxia, psychosis and dementia--a new syndrome.

external link
9.

Miller ME et al. (1970) A familial deficiency of the phagocytosis-enhancing activity of serum related to a dysfunction of the fifth component of complement (C5).

external link
10.

Jacobs JC et al. (1972) Fatal familial Leiner's disease: a deficiency of the opsonic activity of serum complement.

external link
11.

Simon C et al. (1965) [On a fatally progressing disease of 3 brothers under the picture of erythrodermia desquamativa Leiner].

external link
12.

Gray F et al. (1985) Leukoencephalopathy in diffuse hemorrhagic cerebral amyloid angiopathy.

external link
13.

Cosgrove GR et al. (1985) Cerebral amyloid angiopathy.

external link
14.

Kölble K et al. (1993) Carrier detection in families with properdin deficiency by microsatellite haplotyping.

external link
15.

Luyendijk W et al. (1986) Hereditary cerebral hemorrhage.

external link
16.

Zimran A et al. (1987) Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7/C8 deficiency in Sephardic (Moroccan) Jews.

external link
17.

Mensink EJ et al. (1987) Immunodeficiency disease genes on the X chromosome.

external link
18.

Luyendijk W et al. (1988) Hereditary cerebral haemorrhage caused by cortical amyloid angiopathy.

external link
19.

Densen P et al. (1987) Familial properdin deficiency and fatal meningococcemia. Correction of the bactericidal defect by vaccination.

external link
20.

Glover MT et al. (1988) Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency.

external link
21.

Goonewardena P et al. (1988) Linkage analysis of the properdin deficiency gene: suggestion of a locus in the proximal part of the short arm of the X chromosome.

external link
22.

Schifferli JA et al. (1985) Meningococcal meningitis in the first case of complement deficiency.

external link
23.

Nürnberger W et al. (1989) Familial deficiency of the seventh component of complement associated with recurrent meningococcal infections.

external link
24.

Fijen CA et al. (1989) Complement deficiencies in patients over ten years old with meningococcal disease due to uncommon serogroups.

external link
25.

Haan J et al. (1990) Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type.

external link
26.

Rostagno A et al. (2002) Complement activation in chromosome 13 dementias. Similarities with Alzheimer's disease.

external link
27.

Griffiths RA et al. (1982) Congophilic angiopathy of the brain: a clinical and pathological report on two siblings.

external link
28.

Plant GT et al. (1990) Familial cerebral amyloid angiopathy with nonneuritic amyloid plaque formation.

external link
29.

Audo I et al. (2014) The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

external link
30.

Fluhrer R et al. (2012) The α-helical content of the transmembrane domain of the British dementia protein-2 (Bri2) determines its processing by signal peptide peptidase-like 2b (SPPL2b).

external link
31.

Coomaraswamy J et al. (2010) Modeling familial Danish dementia in mice supports the concept of the amyloid hypothesis of Alzheimer's disease.

external link
32.

Verbeek MM et al. (2009) Cerebrospinal fluid amyloid beta(40) is decreased in cerebral amyloid angiopathy.

external link
33.

Herzig MC et al. (2006) Mechanism of cerebral beta-amyloid angiopathy: murine and cellular models.

external link
34.

van den Boom R et al. (2005) Microbleeds in hereditary cerebral hemorrhage with amyloidosis-Dutch type.

external link
35.

Herzig MC et al. (2004) Abeta is targeted to the vasculature in a mouse model of hereditary cerebral hemorrhage with amyloidosis.

external link
36.

Attems J et al. (2004) Amyloid beta peptide 1-42 highly correlates with capillary cerebral amyloid angiopathy and Alzheimer disease pathology.

external link
37.

Revesz T et al. (2003) Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view.

external link
38.

Grabowski TJ et al. (2001) Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy.

external link
39.

Natté R et al. (2001) Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type is associated with cerebral amyloid angiopathy but is independent of plaques and neurofibrillary tangles.

external link
40.

Ghiso JA et al. (2001) Systemic amyloid deposits in familial British dementia.

external link
41.

Iglesias S et al. (2000) Familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, dementia, and external carotid dysplasia.

external link
42.

Vidal R et al. (2000) A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred.

external link
43.

O'Donnell HC et al. (2000) Apolipoprotein E genotype and the risk of recurrent lobar intracerebral hemorrhage.

external link
44.

Vidal R et al. (1999) A stop-codon mutation in the BRI gene associated with familial British dementia.

external link
45.

Fukumori Y et al. (1998) Terminal complement component deficiencies in Japan.

external link
46.

Greenberg SM et al. (1998) Association of apolipoprotein E epsilon2 and vasculopathy in cerebral amyloid angiopathy.

external link
47.

Nicoll JA et al. (1997) High frequency of apolipoprotein E epsilon 2 allele in hemorrhage due to cerebral amyloid angiopathy.

external link
48.

Yamada M et al. (1996) Lack of an association between apolipoprotein E epsilon 4 and cerebral amyloid angiopathy in elderly Japanese.

external link
49.

Nicoll JA et al. (1996) High frequency of apolipoprotein E epsilon 2 in patients with cerebral hemorrhage due to cerebral amyloid angiopathy.

external link
50.

Fernie BA et al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

external link
51.

Sjöholm AG et al. (1982) Properdin deficiency in a family with fulminant meningococcal infections.

external link
52.

Tersmette-Steenstra HM et al. (1986) [A family with meningococcal infections].

external link
53.

Sjöholm AG et al. (1988) Dysfunctional properdin in a Dutch family with meningococcal disease.

external link
54.

Sjöholm AG et al. (1988) A second variant of properdin deficiency: the detection of properdin at low concentrations in affected males.

external link
55.

Schlesinger M et al. (1990) Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections.

external link
56.

Coleman MP et al. (1991) Genetic and physical mapping around the properdin P gene.

external link
57.

Derry JM et al. (1992) Physical linkage of the A-raf-1, properdin, synapsin I, and TIMP genes on the human and mouse X chromosomes.

external link
58.

Wadelius C et al. (1992) Linkage analysis in properdin deficiency families: refined location in proximal Xp.

external link
59.

Nolan KF et al. (1992) Characterization of the human properdin gene.

external link
60.

Fernie BA et al. (1998) Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

external link
61.

Fernie BA et al. (1997) Molecular bases of C7 deficiency: three different defects.

external link
62.

Nishizaka H et al. (1996) Genetic bases of human complement C7 deficiency.

external link
63.

Asghar SS et al. (1991) Hereditary deficiency of C5 in association with discoid lupus erythematosus.

external link
64.

Lachmann PJ et al. (1978) Combined genetic deficiency of C6 and C7 in man.

external link
65.

Ross SC et al. (1984) Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency.

external link
66.

Coto E et al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.

external link
67.

Wang X et al. (1995) Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.

external link
68.

Wetsel RA et al. (1990) Deficiency of the murine fifth complement component (C5). A 2-base pair gene deletion in a 5'-exon.

external link
69.

Bugiani O et al. (2010) Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

external link
70.

Revesz T et al. (2009) Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies.

external link
71.

Rovelet-Lecrux A et al. (2006) APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

external link
72.

Obici L et al. (2005) A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.

external link
73.

Greenberg SM et al. (2003) Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation.

external link
74.

Levy E et al. (1990) Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.

external link
75.

Schlesinger M et al. (1993) Hereditary properdin deficiency in three families of Tunisian Jews.

external link
76.

Prelli F et al. (1990) Expression of a normal and variant Alzheimer's beta-protein gene in amyloid of hereditary cerebral hemorrhage, Dutch type: DNA and protein diagnostic assays.

external link
77.

Van Broeckhoven C et al. (1990) Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch).

external link
78.

Fernandez-Madrid I et al. (1991) Codon 618 variant of Alzheimer amyloid gene associated with inherited cerebral hemorrhage.

external link
79.

Shield JP et al. (1992) Lethal congenital erythroderma: a newly recognised genetic disorder.

external link
80.

Friduss SR et al. (1992) Fatal pyoderma gangrenosum in association with C7 deficiency.

external link
81.

Sanal O et al. (1992) Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families.

external link
82.

None (1975) Congophilic angiopathy complicated by surgery and massive hemorrhage. A light and electron microscopic study.

external link
83.

Boyer JT et al. (1975) Hereditary deficiency of the seventh component of complement.

external link
84.

Rosenfeld SI et al. (1976) Hereditary deficiency of the fifth component of complement in man. II. Biological properties of C5-deficient human serum.

external link
85.

Snyderman R et al. (1979) Deficiency of the fifth component of complement in human subjects. Clinical, genetic and immunologic studies in a large kindred.

external link
86.

Delâge JM et al. (1977) Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family.

external link
87.

Rittner C et al. (1976) Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome No. 6 in man.

external link
88.

Petersen BH et al. (1979) Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency.

external link
89.

Lee TJ et al. (1978) Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria.

external link
90.

None (1998) Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment.

external link
91.

Graffagnino C et al. (1994) A molecular genetic study of intracerebral hemorrhage.

external link
92.

Roosen N et al. (1985) Intracerebral hemorrhage due to cerebral amyloid angiopathy. Case report.

external link
93.

Smith DB et al. (1985) Cerebral amyloid angiopathy presenting as transient ischemic attacks. Case report.

external link
94.

van Duinen SG et al. (1987) Hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin is related to Alzheimer disease.

external link
95.

van den Bogaard R et al. (2000) Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.

external link
96.

Fredrikson GN et al. (1996) Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange.

external link
97.

Westberg J et al. (1995) Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency.

external link
98.

Ash S et al. (1994) Further mapping of the properdin deficiency gene in a Tunisian Jewish family--evidence for genetic homogeneity.

external link
99.

Orphanet article

Orphanet ID 316226 external link
100.

OMIM.ORG article

Omim 176500 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz