Die zerebrale Amyloid-Angiopathie vom Britischen Typ ist eine autosomal dominante Erkrankung mit variabler Penetranz, die durch eine Mutation im ITM2B-Gen hervorgerufen wird.
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Gelfand EW et al. (1987) Inherited deficiency of properdin and C2 in a patient with recurrent bacteremia. ![]() |
2. |
Greenberg SM et al. (1995) Apolipoprotein E epsilon 4 and cerebral hemorrhage associated with amyloid angiopathy. ![]() |
4. |
Clough JD et al. (1980) Familial late complement component (C6, C7) deficiency with chronic meningococcemia. ![]() |
5. |
Wattendorff AR et al. (1982) Familial cerebral amyloid angiopathy presenting as recurrent cerebral haemorrhage. ![]() |
6. |
Davis CA et al. (1980) Partial properdin deficiency. ![]() |
7. |
Adams EM et al. (1983) Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis. ![]() |
8. |
Strömgren E et al. (1970) Cataract, deafness, cerebellar ataxia, psychosis and dementia--a new syndrome. ![]() |
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). ![]() |
10. |
Jacobs JC et al. (1972) Fatal familial Leiner's disease: a deficiency of the opsonic activity of serum complement. ![]() |
11. |
Simon C et al. (1965) [On a fatally progressing disease of 3 brothers under the picture of erythrodermia desquamativa Leiner]. ![]() |
12. |
Gray F et al. (1985) Leukoencephalopathy in diffuse hemorrhagic cerebral amyloid angiopathy. ![]() |
13. |
Cosgrove GR et al. (1985) Cerebral amyloid angiopathy. ![]() |
14. |
Kölble K et al. (1993) Carrier detection in families with properdin deficiency by microsatellite haplotyping. ![]() |
15. |
Luyendijk W et al. (1986) Hereditary cerebral hemorrhage. ![]() |
16. |
Zimran A et al. (1987) Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7/C8 deficiency in Sephardic (Moroccan) Jews. ![]() |
17. |
Mensink EJ et al. (1987) Immunodeficiency disease genes on the X chromosome. ![]() |
18. |
Luyendijk W et al. (1988) Hereditary cerebral haemorrhage caused by cortical amyloid angiopathy. ![]() |
19. |
Densen P et al. (1987) Familial properdin deficiency and fatal meningococcemia. Correction of the bactericidal defect by vaccination. ![]() |
20. |
Glover MT et al. (1988) Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency. ![]() |
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. ![]() |
22. |
Schifferli JA et al. (1985) Meningococcal meningitis in the first case of complement deficiency. ![]() |
23. |
Nürnberger W et al. (1989) Familial deficiency of the seventh component of complement associated with recurrent meningococcal infections. ![]() |
24. |
Fijen CA et al. (1989) Complement deficiencies in patients over ten years old with meningococcal disease due to uncommon serogroups. ![]() |
25. |
Haan J et al. (1990) Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type. ![]() |
26. |
Rostagno A et al. (2002) Complement activation in chromosome 13 dementias. Similarities with Alzheimer's disease. ![]() |
27. |
Griffiths RA et al. (1982) Congophilic angiopathy of the brain: a clinical and pathological report on two siblings. ![]() |
28. |
Plant GT et al. (1990) Familial cerebral amyloid angiopathy with nonneuritic amyloid plaque formation. ![]() |
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). ![]() |
31. |
Coomaraswamy J et al. (2010) Modeling familial Danish dementia in mice supports the concept of the amyloid hypothesis of Alzheimer's disease. ![]() |
32. |
Verbeek MM et al. (2009) Cerebrospinal fluid amyloid beta(40) is decreased in cerebral amyloid angiopathy. ![]() |
33. |
Herzig MC et al. (2006) Mechanism of cerebral beta-amyloid angiopathy: murine and cellular models. ![]() |
34. |
van den Boom R et al. (2005) Microbleeds in hereditary cerebral hemorrhage with amyloidosis-Dutch type. ![]() |
35. |
Herzig MC et al. (2004) Abeta is targeted to the vasculature in a mouse model of hereditary cerebral hemorrhage with amyloidosis. ![]() |
36. |
Attems J et al. (2004) Amyloid beta peptide 1-42 highly correlates with capillary cerebral amyloid angiopathy and Alzheimer disease pathology. ![]() |
37. |
Revesz T et al. (2003) Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view. ![]() |
38. |
Grabowski TJ et al. (2001) Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. ![]() |
40. |
Ghiso JA et al. (2001) Systemic amyloid deposits in familial British dementia. ![]() |
41. |
Iglesias S et al. (2000) Familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, dementia, and external carotid dysplasia. ![]() |
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. ![]() |
43. |
O'Donnell HC et al. (2000) Apolipoprotein E genotype and the risk of recurrent lobar intracerebral hemorrhage. ![]() |
44. |
Vidal R et al. (1999) A stop-codon mutation in the BRI gene associated with familial British dementia. ![]() |
45. |
Fukumori Y et al. (1998) Terminal complement component deficiencies in Japan. ![]() |
46. |
Greenberg SM et al. (1998) Association of apolipoprotein E epsilon2 and vasculopathy in cerebral amyloid angiopathy. ![]() |
47. |
Nicoll JA et al. (1997) High frequency of apolipoprotein E epsilon 2 allele in hemorrhage due to cerebral amyloid angiopathy. ![]() |
48. |
Yamada M et al. (1996) Lack of an association between apolipoprotein E epsilon 4 and cerebral amyloid angiopathy in elderly Japanese. ![]() |
49. |
Nicoll JA et al. (1996) High frequency of apolipoprotein E epsilon 2 in patients with cerebral hemorrhage due to cerebral amyloid angiopathy. ![]() |
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. ![]() |
51. |
Sjöholm AG et al. (1982) Properdin deficiency in a family with fulminant meningococcal infections. ![]() |
52. |
Tersmette-Steenstra HM et al. (1986) [A family with meningococcal infections]. ![]() |
53. |
Sjöholm AG et al. (1988) Dysfunctional properdin in a Dutch family with meningococcal disease. ![]() |
54. |
Sjöholm AG et al. (1988) A second variant of properdin deficiency: the detection of properdin at low concentrations in affected males. ![]() |
55. |
Schlesinger M et al. (1990) Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections. ![]() |
56. |
Coleman MP et al. (1991) Genetic and physical mapping around the properdin P gene. ![]() |
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. ![]() |
58. |
Wadelius C et al. (1992) Linkage analysis in properdin deficiency families: refined location in proximal Xp. ![]() |
59. |
Nolan KF et al. (1992) Characterization of the human properdin gene. ![]() |
60. |
Fernie BA et al. (1998) Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. ![]() |
61. |
Fernie BA et al. (1997) Molecular bases of C7 deficiency: three different defects. ![]() |
62. |
Nishizaka H et al. (1996) Genetic bases of human complement C7 deficiency. ![]() |
63. |
Asghar SS et al. (1991) Hereditary deficiency of C5 in association with discoid lupus erythematosus. ![]() |
64. |
Lachmann PJ et al. (1978) Combined genetic deficiency of C6 and C7 in man. ![]() |
65. |
Ross SC et al. (1984) Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. ![]() |
66. |
Coto E et al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes. ![]() |
68. |
Wetsel RA et al. (1990) Deficiency of the murine fifth complement component (C5). A 2-base pair gene deletion in a 5'-exon. ![]() |
69. |
Bugiani O et al. (2010) Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP. ![]() |
70. |
Revesz T et al. (2009) Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies. ![]() |
71. |
Rovelet-Lecrux A et al. (2006) APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. ![]() |
72. |
Obici L et al. (2005) A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy. ![]() |
73. |
Greenberg SM et al. (2003) Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation. ![]() |
74. |
Levy E et al. (1990) Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. ![]() |
75. |
Schlesinger M et al. (1993) Hereditary properdin deficiency in three families of Tunisian Jews. ![]() |
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. ![]() |
77. |
Van Broeckhoven C et al. (1990) Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). ![]() |
78. |
Fernandez-Madrid I et al. (1991) Codon 618 variant of Alzheimer amyloid gene associated with inherited cerebral hemorrhage. ![]() |
79. |
Shield JP et al. (1992) Lethal congenital erythroderma: a newly recognised genetic disorder. ![]() |
80. |
Friduss SR et al. (1992) Fatal pyoderma gangrenosum in association with C7 deficiency. ![]() |
81. |
Sanal O et al. (1992) Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families. ![]() |
82. |
None (1975) Congophilic angiopathy complicated by surgery and massive hemorrhage. A light and electron microscopic study. ![]() |
83. |
Boyer JT et al. (1975) Hereditary deficiency of the seventh component of complement. ![]() |
84. |
Rosenfeld SI et al. (1976) Hereditary deficiency of the fifth component of complement in man. II. Biological properties of C5-deficient human serum. ![]() |
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. ![]() |
86. |
Delâge JM et al. (1977) Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family. ![]() |
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. ![]() |
88. |
Petersen BH et al. (1979) Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency. ![]() |
89. |
Lee TJ et al. (1978) Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria. ![]() |
90. |
None (1998) Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment. ![]() |
91. |
Graffagnino C et al. (1994) A molecular genetic study of intracerebral hemorrhage. ![]() |
92. |
Roosen N et al. (1985) Intracerebral hemorrhage due to cerebral amyloid angiopathy. Case report. ![]() |
93. |
Smith DB et al. (1985) Cerebral amyloid angiopathy presenting as transient ischemic attacks. Case report. ![]() |
94. |
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95. |
van den Bogaard R et al. (2000) Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. ![]() |
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. ![]() |
98. |
Ash S et al. (1994) Further mapping of the properdin deficiency gene in a Tunisian Jewish family--evidence for genetic homogeneity. ![]() |
99. |
Orphanet article Orphanet ID 316226![]() |
100. |
OMIM.ORG article Omim 176500![]() |