familial cerebral amyloid angiopathy

Summary

Summary: A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES.

Top Publications

  1. Frangione B, Revesz T, Vidal R, Holton J, Lashley T, Houlden H, et al. Familial cerebral amyloid angiopathy related to stroke and dementia. Amyloid. 2001;8 Suppl 1:36-42 pubmed
    ..This review focuses on four different types of hereditary CAA, emphasizing the notion that CAA is not only related to stroke but also to neurodegeneration and dementia of the Alzheimer's type...
  2. Ghetti B, Tagliavini F, Takao M, Bugiani O, Piccardo P. Hereditary prion protein amyloidoses. Clin Lab Med. 2003;23:65-85, viii pubmed
    ..In GSS, N-truncated and C-truncated proteinase K-resistant PrP isoforms are present in the brain...
  3. Hoos M, Ahmed M, Smith S, Van Nostrand W. Inhibition of familial cerebral amyloid angiopathy mutant amyloid beta-protein fibril assembly by myelin basic protein. J Biol Chem. 2007;282:9952-61 pubmed
    ..Together, these findings suggest a possible role for MBP in regulating parenchymal fibrillar Abeta deposition in familial CAA...
  4. Maat Schieman M, Yamaguchi H, Hegeman Kleinn I, Welling Graafland C, Natté R, Roos R, et al. Glial reactions and the clearance of amyloid beta protein in the brains of patients with hereditary cerebral hemorrhage with amyloidosis-Dutch type. Acta Neuropathol. 2004;107:389-98 pubmed
    ..Abeta sequestration by glial cells may be a factor limiting the levels of neurotoxic soluble Abeta oligomers in HCHWA-D brain...
  5. Rostagno A, Lashley T, Ng D, Meyerson J, Braendgaard H, Plant G, et al. Preferential association of serum amyloid P component with fibrillar deposits in familial British and Danish dementias: similarities with Alzheimer's disease. J Neurol Sci. 2007;257:88-96 pubmed
  6. Dermaut B, Kumar Singh S, De Jonghe C, Cruts M, Lofgren A, Lubke U, et al. Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation. Brain. 2001;124:2383-92 pubmed
    ..Together, these data suggest that, like the dense-cored neuritic plaques, CAA might represent a pathogenic lesion that contributes significantly to the progressive neurodegeneration that occurs in Alzheimer's disease...
  7. Herzig M, Eisele Y, Staufenbiel M, Jucker M. E22Q-mutant Abeta peptide (AbetaDutch) increases vascular but reduces parenchymal Abeta deposition. Am J Pathol. 2009;174:722-6 pubmed publisher
    ..Our findings suggest that AbetaDutch1-40 inhibits parenchymal amyloidosis but exacerbates vascular amyloid, hence explaining the compartment-specific distribution of cerebral amyloid in HCHWA-D patients...
  8. Szpak G, Lewandowska E, Wierzba Bobrowicz T, Bertrand E, Pasennik E, Mendel T, et al. Small cerebral vessel disease in familial amyloid and non-amyloid angiopathies: FAD-PS-1 (P117L) mutation and CADASIL. Immunohistochemical and ultrastructural studies. Folia Neuropathol. 2007;45:192-204 pubmed
    ..These findings may suggest an accelerated process of transformation of the small cerebral vessels in which early onset of VSMCs loss is a predominant feature of the vascular changes in both presented diseases...
  9. Wilhelmus M, Boelens W, Kox M, Maat Schieman M, Veerhuis R, de Waal R, et al. Small heat shock proteins associated with cerebral amyloid angiopathy of hereditary cerebral hemorrhage with amyloidosis (Dutch type) induce interleukin-6 secretion. Neurobiol Aging. 2009;30:229-40 pubmed

More Information

Publications44

  1. Nishitsuji K, Tomiyama T, Ishibashi K, Kametani F, Ozawa K, Okada R, et al. Cerebral vascular accumulation of Dutch-type Abeta42, but not wild-type Abeta42, in hereditary cerebral hemorrhage with amyloidosis, Dutch type. J Neurosci Res. 2007;85:2917-23 pubmed
    ..Moreover, we detected peaks corresponding to Dutch-type Abeta42 but not to wild-type Abeta42. These results suggest a pathogenic role for the mutant Abeta42 in addition to the mutant Abeta40 in the cerebral amyloid angiopathy of HCHWA-D...
  2. Natte R, Maat Schieman M, Haan J, Bornebroek M, Roos R, van Duinen S. Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type is associated with cerebral amyloid angiopathy but is independent of plaques and neurofibrillary tangles. Ann Neurol. 2001;50:765-72 pubmed
    ..This may have implications for clinicopathological correlations in Alzheimer's disease and other dementias with cerebral amyloid angiopathy...
  3. Van Nostrand W, Melchor J, Romanov G, Zeigler K, Davis J. Pathogenic effects of cerebral amyloid angiopathy mutations in the amyloid beta-protein precursor. Ann N Y Acad Sci. 2002;977:258-65 pubmed
    ..Preliminary analysis of transgenic mouse brains indicates that expression of double-mutant E22Q/D23N Dutch/Iowa AbetaPP leads to robust deposition of Abeta in a vascular-weighted manner...
  4. Greenberg S, Shin Y, Grabowski T, Cooper G, Rebeck G, Iglesias S, et al. Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation. Neurology. 2003;60:1020-2 pubmed
    ..These data point to other genetic or environmental factors that may determine the occurrence of symptomatic hemorrhage in amyloid angiopathy...
  5. Deane R, Wu Z, Zlokovic B. RAGE (yin) versus LRP (yang) balance regulates alzheimer amyloid beta-peptide clearance through transport across the blood-brain barrier. Stroke. 2004;35:2628-31 pubmed
  6. Remes A, Laru L, Tuominen H, Aalto S, Kemppainen N, Mononen H, et al. Carbon 11-labeled pittsburgh compound B positron emission tomographic amyloid imaging in patients with APP locus duplication. Arch Neurol. 2008;65:540-4 pubmed publisher
    ..To investigate amyloid accumulation by carbon 11-labeled Pittsburgh Compound B (11C-PiB) in hereditary cerebral amyloid angiopathy and APP locus duplication...
  7. Hyytiä H, Ristiniemi N, Airas L, Pettersson K, Hellman J. Development of an immunoassay for the detection of cystatin C dimers. J Immunol Methods. 2010;355:14-20 pubmed publisher
    ..07 and P=0.98 respectively). In conclusion, the immunoassay provides direct means for detecting CysC dimers in serum and CSF in respect to the amount of total CysC...
  8. Obici L, Demarchi A, de Rosa G, Bellotti V, Marciano S, Donadei S, et al. A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy. Ann Neurol. 2005;58:639-44 pubmed
    ..Pathological examination disclosed severe CAA, without parenchymal amyloid plaques or neurofibrillary tangles. This variant highlights the vascular tropism of mutated Abeta, resulting in CAA instead of the pathological hallmarks of AD...
  9. Miao J, Xu F, Davis J, Otte Holler I, Verbeek M, Van Nostrand W. Cerebral microvascular amyloid beta protein deposition induces vascular degeneration and neuroinflammation in transgenic mice expressing human vasculotropic mutant amyloid beta precursor protein. Am J Pathol. 2005;167:505-15 pubmed
    ..Together, these studies identify the Tg-SwDI mouse as a unique model to investigate selective accumulation of cerebral microvascular amyloid and the associated neuroinflammation...
  10. Rebeck G, Cho H, Grabowski T, Greenberg S. The effects of AbetaPP mutations and APOE polymorphisms on cerebral amyloid angiopathy. Amyloid. 2001;8 Suppl 1:43-7 pubmed
    ..We suggest that the initial deposition of Abeta occurs in the absence of apoE, and that the process of Abeta deposit growth or stabilization is apoE-dependent...
  11. Gerhartz B, Abrahamson M. Physico-chemical properties of the N-terminally truncated L68Q cystatin C found in amyloid deposits of brain haemorrhage patients. Biol Chem. 2002;383:301-5 pubmed
    ..We conclude that the N-terminal truncation likely is an event secondary to amyloid formation, and of no relevance for the development of HCCAA...
  12. Bornebroek M, De Jonghe C, Haan J, Kumar Singh S, Younkin S, Roos R, et al. Hereditary cerebral hemorrhage with amyloidosis Dutch type (AbetaPP 693): decreased plasma amyloid-beta 42 concentration. Neurobiol Dis. 2003;14:619-23 pubmed
    ..Therefore it is suggested that the Dutch AbetaPP693 mutation located within the Abeta coding region of the AbetaPP gene has a different effect not only on clinical and pathological expression but also on Abeta processing...
  13. Gray F, Chretien F, Keohane C. [Hereditary cerebral amyloid angiopathies]. Rev Neurol (Paris). 2001;157:1207-17 pubmed
  14. Shin Y, Cho H, Fukumoto H, Shimizu T, Shirasawa T, Greenberg S, et al. Abeta species, including IsoAsp23 Abeta, in Iowa-type familial cerebral amyloid angiopathy. Acta Neuropathol. 2003;105:252-8 pubmed
    ..These data suggest that alteration of Abeta Asn23 to isoAsp may be an important determinant in the deposition of Abeta in cerebral blood vessels...
  15. Maat Schieman M, Roos R, van Duinen S. Hereditary cerebral hemorrhage with amyloidosis-Dutch type. Neuropathology. 2005;25:288-97 pubmed
    ..However, the relative importance of cerebral hemorrhages/infarcts, white matter damage and/or other CAA- or Abeta-related factors for cognitive deterioration in HCHWA-D remains to be determined...
  16. Naito K, Sekijima Y, Ikeda S. Cerebral amyloid angiopathy-related hemorrhage in a middle-aged patient with Down's syndrome. Amyloid. 2008;15:275-7 pubmed publisher
    ..Genetic factors, such as APOE genotype, conceivably determine the risk of vascular rupture in individuals with CAA, even among patients with DS...
  17. Shin Y, Cho H, Rebeck G, Greenberg S. Vascular changes in Iowa-type hereditary cerebral amyloid angiopathy. Ann N Y Acad Sci. 2002;977:245-51 pubmed
    ..The observed changes in the Iowa brain suggest pathophysiologic mechanisms for vascular dysfunction in CAA and possible approaches to treatment of CAA-related cognitive impairment...
  18. Veerman S, Sno H, Ravelli D, Roos R. [A female patient with late-onset schizophrenia and fear of Katwijk disease]. Tijdschr Psychiatr. 2009;51:255-61 pubmed
    ..Differential diagnoses that were discussed included cerebral amyloidal angiopathy, frontal lobe dementia and Huntington's disease...
  19. Mimassi N, Youinou P, Pennec Y. [Amyloidosis and aging]. Ann Med Interne (Paris). 2002;153:383-8 pubmed
    ..The significance of aortic amyloidosis, amyloidosis of seminal vesicles, amyloid of the endocrine glands, and articular amyloidosis remains unknown...
  20. Gallo C, Orlassino R, Vineis C. [Recurrent intraparenchimal haemorrhages in a patient with cerebral amyloidotic angiopathy: description of one autopsy case]. Pathologica. 2006;98:44-7 pubmed
    ..We report, moreover, a novel mutation (Leu705Val) within the Abeta sequence of a AbetaPP in a family with autosomal dominant, recurrent intracerebral hemorrhages beginning in the sixth decade of life...
  21. Miao J, Vitek M, Xu F, Previti M, Davis J, Van Nostrand W. Reducing cerebral microvascular amyloid-beta protein deposition diminishes regional neuroinflammation in vasculotropic mutant amyloid precursor protein transgenic mice. J Neurosci. 2005;25:6271-7 pubmed
    ..important contributory factor to neuroinflammation and dementia in Alzheimer's disease and related familial cerebral amyloid angiopathy disorders...
  22. Revesz T, Holton J, Lashley T, Plant G, Rostagno A, Ghiso J, et al. Sporadic and familial cerebral amyloid angiopathies. Brain Pathol. 2002;12:343-57 pubmed
    ..We also discuss data relevant to the pathomechanism of the different forms of CAA with an emphasis on the most common A beta-related types...
  23. Rottkamp C, Atwood C, Joseph J, Nunomura A, Perry G, Smith M. The state versus amyloid-beta: the trial of the most wanted criminal in Alzheimer disease. Peptides. 2002;23:1333-41 pubmed
    ..Below, we present a brief synopsis of the trial for you, the jury, to decide the verdict. Amyloid-beta: guilty or not-guilty?..
  24. Wilhelmus M, Otte Holler I, van Triel J, Veerhuis R, Maat Schieman M, Bu G, et al. Lipoprotein receptor-related protein-1 mediates amyloid-beta-mediated cell death of cerebrovascular cells. Am J Pathol. 2007;171:1989-99 pubmed
    ..Although perivascular cells may adapt their A beta internalization capacity to the levels of A beta present, saturated LRP-1/LDLR-mediated uptake of A beta results in degeneration of perivascular cells...
  25. Tabira T. [Familial non-Alzheimer dementia]. Rinsho Shinkeigaku. 2003;43:775-8 pubmed
    ..Mutations in Bri gene are reported. 4) Familial encephalopathy with neuroserpin inclusion bodies (FENIB) FENIB is characterized by dementia, Collins body and neuroserpin gene mutation...
  26. Kusaba T, Hatta T, Kimura T, Sonomura K, Tanda S, Kishimoto N, et al. Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Clin Nephrol. 2007;67:182-7 pubmed
    ..Analysis of our cases provided that these morphological abnormalities were also observed in the CADASIL patient kidney...
  27. Fossati S, Cam J, Meyerson J, Mezhericher E, Romero I, Couraud P, et al. Differential activation of mitochondrial apoptotic pathways by vasculotropic amyloid-beta variants in cells composing the cerebral vessel walls. FASEB J. 2010;24:229-41 pubmed publisher
    ..The data support the notion that rare genetic mutations constitute unique paradigms to understand the molecular pathogenesis of CAA...
  28. Rensink A, Gellekink H, Otte Holler I, ten Donkelaar H, de Waal R, Verbeek M, et al. Expression of the cytokine leukemia inhibitory factor and pro-apoptotic insulin-like growth factor binding protein-3 in Alzheimer's disease. Acta Neuropathol. 2002;104:525-33 pubmed
    ..IGFBP-3 is known to inhibit cell proliferation and induce apoptosis and may therefore contribute to neuronal degeneration in AD...
  29. Panegyres P, Kwok J, Schofield P, Blumbergs P. A Western Australian kindred with Dutch cerebral amyloid angiopathy. J Neurol Sci. 2005;239:75-80 pubmed
    ..The discovery highlights the importance of detecting this rare cause of fatal cerebral haemorrhage as it has implications for gene testing and general medical management...
  30. van den Boom R, Bornebroek M, Behloul F, van den Berg Huysmans A, Haan J, van Buchem M. Microbleeds in hereditary cerebral hemorrhage with amyloidosis-Dutch type. Neurology. 2005;64:1288-9 pubmed
    ..This predictable hereditary variant of CAA may be a useful model to study microbleeds in relation to CAA...
  31. Muñoz F, Opazo C, Gil Gomez G, Tapia G, Fernandez V, Valverde M, et al. Vitamin E but not 17beta-estradiol protects against vascular toxicity induced by beta-amyloid wild type and the Dutch amyloid variant. J Neurosci. 2002;22:3081-9 pubmed
    ..Our data indicate that vitamin E attenuated significantly the Abeta-mediated cytotoxicity on vascular cells, although 17beta-estradiol and vitamin C failed to inhibit the cytotoxicity induced by Abeta fibrils...
  32. van Rooden S, van der Grond J, van den Boom R, Haan J, Linn J, Greenberg S, et al. Descriptive analysis of the Boston criteria applied to a Dutch-type cerebral amyloid angiopathy population. Stroke. 2009;40:3022-7 pubmed publisher
    ..The aim of this study was to analyze and refine the existing Boston criteria in patients with hereditary cerebral hemorrhage with amyloidosis-Dutch type...
  33. Jansen C, Parchi P, Capellari S, Vermeij A, Corrado P, Baas F, et al. Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. Acta Neuropathol. 2010;119:189-97 pubmed publisher
    ..Furthermore, it confirms that the absence of the glycosylphosphatidylinositol anchor in PrP predisposes to amyloid plaque formation...
  34. van Horssen J, Otte Holler I, David G, Maat Schieman M, van den Heuvel L, Wesseling P, et al. Heparan sulfate proteoglycan expression in cerebrovascular amyloid beta deposits in Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis (Dutch) brains. Acta Neuropathol. 2001;102:604-14 pubmed
    ..We conclude that specific HSPG species may be involved in the pathogenesis of CAA in both AD and HCHWA-D, and that the pathogenesis of CAA and SPs may differ with regard to the involvement of HSPG species...
  35. Dumont M, Strazielle C, Staufenbiel M, Lalonde R. Spatial learning and exploration of environmental stimuli in 24-month-old female APP23 transgenic mice with the Swedish mutation. Brain Res. 2004;1024:113-21 pubmed
    ..These results indicate that hyperactivity and impaired learning abilities characterize this mouse model of Alzheimer's disease and cerebral angiopathy...