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Hereditary cerebral hemorrhage with amyloidosis(HCHWA)

MedGen UID:
267610
Concept ID:
C1510489
Disease or Syndrome
Synonym: Cerebral Amyloid Angiopathy, Hereditary
SNOMED CT: Hereditary cerebral hemorrhage with amyloidosis (724357007); HCHWA - hereditary cerebral hemorrhage with amyloidosis (724357007)
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.
 
Monarch Initiative: MONDO:0005620
OMIM®: 105150
Orphanet: ORPHA85458

Definition

Describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Clinical features depend on the disease type. Most forms of HCHWA (Dutch, Arctic, Piedmont, Iowa, Flemish and Italian) are due to a point-mutation in the APP gene on chromosome 21q21.2, which encodes the beta-amyloid precursor protein. This mutation causes increased accumulation of amyloid-beta protein in the walls of cerebral arteries and capillaries. Only one form of HCHWA, Icelandic type, is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C. [from SNOMEDCT_US]

Professional guidelines

PubMed

Verbeek MM, Van Nostrand WE, Otte-Höller I, Wesseling P, De Waal RM
Ann N Y Acad Sci 2000 Apr;903:187-99. doi: 10.1111/j.1749-6632.2000.tb06368.x. PMID: 10818507
DudokdeWit AC, Tibben A, Duivenvoorden HJ, Niermeijer MF, Passchier J, Trijsburg RW
Am J Med Genet 1998 Jan 6;75(1):62-74. doi: 10.1002/(sici)1096-8628(19980106)75:1<62::aid-ajmg14>3.0.co;2-q. PMID: 9450860
Bornebroek M, Haan J, Van Duinen SG, Maat-Schieman ML, Van Buchem MA, Bakker E, Van Broeckhoven C, Roos RA
Ann Neurol 1997 May;41(5):695-8. doi: 10.1002/ana.410410523. PMID: 9153536

Recent clinical studies

Etiology

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
Martinez-Ramirez S, van Rooden S, Charidimou A, van Opstal AM, Wermer M, Gurol ME, Terwindt G, van der Grond J, Greenberg SM, van Buchem M, Viswanathan A
Stroke 2018 Aug;49(8):1913-1919. doi: 10.1161/STROKEAHA.118.021137. PMID: 30012821Free PMC Article
Bugiani O
Neurol Sci 2004 Mar;25 Suppl 1:S1-2. doi: 10.1007/s10072-004-0204-9. PMID: 15045608
Bornebroek M, Haan J, Maat-Schieman ML, Van Duinen SG, Roos RA
Brain Pathol 1996 Apr;6(2):111-4. doi: 10.1111/j.1750-3639.1996.tb00793.x. PMID: 8737926
Haan J, Roos RA
Clin Neurol Neurosurg 1990;92(4):305-10. doi: 10.1016/0303-8467(90)90055-a. PMID: 1963819

Diagnosis

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
Martinez-Ramirez S, van Rooden S, Charidimou A, van Opstal AM, Wermer M, Gurol ME, Terwindt G, van der Grond J, Greenberg SM, van Buchem M, Viswanathan A
Stroke 2018 Aug;49(8):1913-1919. doi: 10.1161/STROKEAHA.118.021137. PMID: 30012821Free PMC Article
Søndergaard CB, Nielsen JE, Hansen CK, Christensen H
Clin Neurol Neurosurg 2017 Apr;155:45-57. Epub 2017 Feb 22 doi: 10.1016/j.clineuro.2017.02.015. PMID: 28254515
Majersik JJ, Skalabrin EJ
Semin Neurol 2006 Feb;26(1):33-48. doi: 10.1055/s-2006-933307. PMID: 16479442
Bornebroek M, Haan J, Maat-Schieman ML, Van Duinen SG, Roos RA
Brain Pathol 1996 Apr;6(2):111-4. doi: 10.1111/j.1750-3639.1996.tb00793.x. PMID: 8737926

Therapy

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
van Rooden S, van der Grond J, van den Boom R, Haan J, Linn J, Greenberg SM, van Buchem MA
Stroke 2009 Sep;40(9):3022-7. Epub 2009 Jun 25 doi: 10.1161/STROKEAHA.109.554378. PMID: 19556530
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
Eikelenboom P, Rozemuller AJ, Hoozemans JJ, Veerhuis R, van Gool WA
Alzheimer Dis Assoc Disord 2000;14 Suppl 1:S54-61. doi: 10.1097/00002093-200000001-00009. PMID: 10850731
Bakker E, van Broeckhoven C, Haan J, Voorhoeve E, van Hul W, Levy E, Lieberburg I, Carman MD, van Ommen GJ, Frangione B
Am J Hum Genet 1991 Sep;49(3):518-21. PMID: 1679289Free PMC Article

Prognosis

van Etten ES, Gurol ME, van der Grond J, Haan J, Viswanathan A, Schwab KM, Ayres AM, Algra A, Rosand J, van Buchem MA, Terwindt GM, Greenberg SM, Wermer MJ
Neurology 2016 Oct 4;87(14):1482-1487. Epub 2016 Sep 2 doi: 10.1212/WNL.0000000000003181. PMID: 27590282Free PMC Article
van der Meer LB, van Duijn E, Giltay EJ, Tibben A
J Genet Couns 2015 Oct;24(5):862-71. Epub 2015 Feb 3 doi: 10.1007/s10897-015-9822-z. PMID: 25641254Free PMC Article
van den Boom R, Bornebroek M, Behloul F, van den Berg-Huysmans AA, Haan J, van Buchem MA
Neurology 2005 Apr 12;64(7):1288-9. doi: 10.1212/01.WNL.0000156946.44593.24. PMID: 15824369
DudokdeWit AC, Tibben A, Duivenvoorden HJ, Niermeijer MF, Passchier J, Trijsburg RW
Am J Med Genet 1998 Jan 6;75(1):62-74. doi: 10.1002/(sici)1096-8628(19980106)75:1<62::aid-ajmg14>3.0.co;2-q. PMID: 9450860
Bornebroek M, Haan J, Maat-Schieman ML, Van Duinen SG, Roos RA
Brain Pathol 1996 Apr;6(2):111-4. doi: 10.1111/j.1750-3639.1996.tb00793.x. PMID: 8737926

Clinical prediction guides

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
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
Bulk M, Moursel LG, van der Graaf LM, van Veluw SJ, Greenberg SM, van Duinen SG, van Buchem MA, van Rooden S, van der Weerd L
Stroke 2018 Sep;49(9):2081-2087. doi: 10.1161/STROKEAHA.118.021872. PMID: 30354978
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
Revesz T, Ghiso J, Lashley T, Plant G, Rostagno A, Frangione B, Holton JL
J Neuropathol Exp Neurol 2003 Sep;62(9):885-98. doi: 10.1093/jnen/62.9.885. PMID: 14533778

Recent systematic reviews

Søndergaard CB, Nielsen JE, Hansen CK, Christensen H
Clin Neurol Neurosurg 2017 Apr;155:45-57. Epub 2017 Feb 22 doi: 10.1016/j.clineuro.2017.02.015. PMID: 28254515

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