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ABeta amyloidosis, dutch type(HCHWAD)

MedGen UID:
419468
•Concept ID:
C2931672
•
Disease or Syndrome
Synonyms: AMYLOIDOSIS, HEREDITARY, WITH CEREBRAL HEMORRHAGE, DUTCH VARIANT; CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
SNOMED CT: Hereditary cerebral hemorrhage with amyloidosis - Dutch type (56453003); Dutch type amyloidosis (56453003); Hereditary cerebral amyloid angiopathy, Dutch type (56453003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015033
OMIM®: 104760; 605714
Orphanet: ORPHA100006

Definition

Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVABeta amyloidosis, dutch type

Recent clinical studies

Etiology

Plasma amyloid beta 42 is a biomarker for patients with hereditary, but not sporadic, cerebral amyloid angiopathy.
de Kort AM, Kuiperij HB, Jäkel L, Kersten I, Rasing I, van Etten ES, van Rooden S, van Osch MJP, Wermer MJH, Terwindt GM, Schreuder FHBM, Klijn CJM, Verbeek MM
Alzheimers Res Ther 2023 Jun 3;15(1):102. doi: 10.1186/s13195-023-01245-2. PMID: 37270536Free PMC Article
Presymptomatic Dutch-Type Hereditary Cerebral Amyloid Angiopathy-Related Blood Metabolite Alterations.
Chatterjee P, Fagan AM, Xiong C, McKay M, Bhatnagar A, Wu Y, Singh AK, Taddei K, Martins I, Gardener SL, Molloy MP, Multhaup G, Masters CL, Schofield PR, Benzinger TLS, Morris JC, Bateman RJ, Greenberg SM, Wermer MJH, van Buchem MA, Sohrabi HR, Martins RN; Dominantly Inherited Alzheimer Network
J Alzheimers Dis 2021;79(2):895-903. doi: 10.3233/JAD-201267. PMID: 33361604Free PMC Article
Early Aβ reduction prevents progression of cerebral amyloid angiopathy.
Schelle J, Wegenast-Braun BM, Fritschi SK, Kaeser SA, Jährling N, Eicke D, Skodras A, Beschorner N, Obermueller U, Häsler LM, Wolfer DP, Mueggler T, Shimshek DR, Neumann U, Dodt HU, Staufenbiel M, Jucker M
Ann Neurol 2019 Oct;86(4):561-571. Epub 2019 Aug 19 doi: 10.1002/ana.25562. PMID: 31359452
β-Amyloid in CSF: Biomarker for preclinical cerebral amyloid angiopathy.
van Etten ES, Verbeek MM, van der Grond J, Zielman R, van Rooden S, van Zwet EW, van Opstal AM, Haan J, Greenberg SM, van Buchem MA, Wermer MJ, Terwindt GM
Neurology 2017 Jan 10;88(2):169-176. Epub 2016 Nov 30 doi: 10.1212/WNL.0000000000003486. PMID: 27903811Free PMC Article
Hereditary and sporadic forms of abeta-cerebrovascular amyloidosis and relevant transgenic mouse models.
Kumar-Singh S
Int J Mol Sci 2009 Apr 23;10(4):1872-1895. doi: 10.3390/ijms10041872. PMID: 19468344Free PMC Article

Diagnosis

Plasma amyloid beta 42 is a biomarker for patients with hereditary, but not sporadic, cerebral amyloid angiopathy.
de Kort AM, Kuiperij HB, Jäkel L, Kersten I, Rasing I, van Etten ES, van Rooden S, van Osch MJP, Wermer MJH, Terwindt GM, Schreuder FHBM, Klijn CJM, Verbeek MM
Alzheimers Res Ther 2023 Jun 3;15(1):102. doi: 10.1186/s13195-023-01245-2. PMID: 37270536Free PMC Article
Decreased Cerebrospinal Fluid Amyloid β 38, 40, 42, and 43 Levels in Sporadic and Hereditary Cerebral Amyloid Angiopathy.
De Kort AM, Kuiperij HB, Marques TM, Jäkel L, van den Berg E, Kersten I, van Berckel-Smit HEP, Duering M, Stoops E, Abdo WF, Rasing I, Voigt S, Koemans EA, Kaushik K, Warren AD, Greenberg SM, Brinkmalm G, Terwindt GM, Wermer MJH, Schreuder FHBM, Klijn CJM, Verbeek MM
Ann Neurol 2023 Jun;93(6):1173-1186. Epub 2023 Feb 20 doi: 10.1002/ana.26610. PMID: 36707720Free PMC Article
Plasma Amyloid-Beta Levels in a Pre-Symptomatic Dutch-Type Hereditary Cerebral Amyloid Angiopathy Pedigree: A Cross-Sectional and Longitudinal Investigation.
Chatterjee P, Tegg M, Pedrini S, Fagan AM, Xiong C, Singh AK, Taddei K, Gardener S, Masters CL, Schofield PR, Multhaup G, Benzinger TLS, Morris JC, Bateman RJ, Greenberg SM, van Buchem MA, Stoops E, Vanderstichele H, Teunissen CE, Hankey GJ, Wermer MJH, Sohrabi HR, Martins RN, The Dominantly Inherited Alzheimer Network
Int J Mol Sci 2021 Mar 13;22(6) doi: 10.3390/ijms22062931. PMID: 33805778Free PMC Article
Presymptomatic Dutch-Type Hereditary Cerebral Amyloid Angiopathy-Related Blood Metabolite Alterations.
Chatterjee P, Fagan AM, Xiong C, McKay M, Bhatnagar A, Wu Y, Singh AK, Taddei K, Martins I, Gardener SL, Molloy MP, Multhaup G, Masters CL, Schofield PR, Benzinger TLS, Morris JC, Bateman RJ, Greenberg SM, Wermer MJH, van Buchem MA, Sohrabi HR, Martins RN; Dominantly Inherited Alzheimer Network
J Alzheimers Dis 2021;79(2):895-903. doi: 10.3233/JAD-201267. PMID: 33361604Free PMC Article
β-Amyloid in CSF: Biomarker for preclinical cerebral amyloid angiopathy.
van Etten ES, Verbeek MM, van der Grond J, Zielman R, van Rooden S, van Zwet EW, van Opstal AM, Haan J, Greenberg SM, van Buchem MA, Wermer MJ, Terwindt GM
Neurology 2017 Jan 10;88(2):169-176. Epub 2016 Nov 30 doi: 10.1212/WNL.0000000000003486. PMID: 27903811Free PMC Article

Therapy

Early Aβ reduction prevents progression of cerebral amyloid angiopathy.
Schelle J, Wegenast-Braun BM, Fritschi SK, Kaeser SA, Jährling N, Eicke D, Skodras A, Beschorner N, Obermueller U, Häsler LM, Wolfer DP, Mueggler T, Shimshek DR, Neumann U, Dodt HU, Staufenbiel M, Jucker M
Ann Neurol 2019 Oct;86(4):561-571. Epub 2019 Aug 19 doi: 10.1002/ana.25562. PMID: 31359452
Tauroursodeoxycholic acid prevents E22Q Alzheimer's Abeta toxicity in human cerebral endothelial cells.
Viana RJ, Nunes AF, Castro RE, Ramalho RM, Meyerson J, Fossati S, Ghiso J, Rostagno A, Rodrigues CM
Cell Mol Life Sci 2009 Mar;66(6):1094-104. doi: 10.1007/s00018-009-8746-x. PMID: 19189048Free PMC Article

Prognosis

Insulin-degrading enzyme in brain microvessels: proteolysis of amyloid {beta} vasculotropic variants and reduced activity in cerebral amyloid angiopathy.
Morelli L, Llovera RE, Mathov I, Lue LF, Frangione B, Ghiso J, Castaño EM
J Biol Chem 2004 Dec 31;279(53):56004-13. Epub 2004 Oct 15 doi: 10.1074/jbc.M407283200. PMID: 15489232
Fibrillar amyloid beta-protein mediates the pathologic accumulation of its secreted precursor in human cerebrovascular smooth muscle cells.
Melchor JP, Van Nostrand WE
J Biol Chem 2000 Mar 31;275(13):9782-91. doi: 10.1074/jbc.275.13.9782. PMID: 10734132

Clinical prediction guides

Presymptomatic Dutch-Type Hereditary Cerebral Amyloid Angiopathy-Related Blood Metabolite Alterations.
Chatterjee P, Fagan AM, Xiong C, McKay M, Bhatnagar A, Wu Y, Singh AK, Taddei K, Martins I, Gardener SL, Molloy MP, Multhaup G, Masters CL, Schofield PR, Benzinger TLS, Morris JC, Bateman RJ, Greenberg SM, Wermer MJH, van Buchem MA, Sohrabi HR, Martins RN; Dominantly Inherited Alzheimer Network
J Alzheimers Dis 2021;79(2):895-903. doi: 10.3233/JAD-201267. PMID: 33361604Free PMC Article
Cerebral amyloid angiopathy-linked β-amyloid mutations promote cerebral fibrin deposits via increased binding affinity for fibrinogen.
Cajamarca SA, Norris EH, van der Weerd L, Strickland S, Ahn HJ
Proc Natl Acad Sci U S A 2020 Jun 23;117(25):14482-14492. Epub 2020 Jun 9 doi: 10.1073/pnas.1921327117. PMID: 32518112Free PMC Article
Early Aβ reduction prevents progression of cerebral amyloid angiopathy.
Schelle J, Wegenast-Braun BM, Fritschi SK, Kaeser SA, Jährling N, Eicke D, Skodras A, Beschorner N, Obermueller U, Häsler LM, Wolfer DP, Mueggler T, Shimshek DR, Neumann U, Dodt HU, Staufenbiel M, Jucker M
Ann Neurol 2019 Oct;86(4):561-571. Epub 2019 Aug 19 doi: 10.1002/ana.25562. PMID: 31359452
TGFβ pathway deregulation and abnormal phospho-SMAD2/3 staining in hereditary cerebral hemorrhage with amyloidosis-Dutch type.
Grand Moursel L, Munting LP, van der Graaf LM, van Duinen SG, Goumans MTH, Ueberham U, Natté R, van Buchem MA, van Roon-Mom WMC, van der Weerd L
Brain Pathol 2018 Jul;28(4):495-506. Epub 2017 Jun 12 doi: 10.1111/bpa.12533. PMID: 28557134Free PMC Article
Hereditary and sporadic forms of abeta-cerebrovascular amyloidosis and relevant transgenic mouse models.
Kumar-Singh S
Int J Mol Sci 2009 Apr 23;10(4):1872-1895. doi: 10.3390/ijms10041872. PMID: 19468344Free PMC Article

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