Hereditary cerebral hemorrhage with amyloidosis
Other Names for this Disease
- Cerebral amyloid angiopathy
- CAA, familial
- Cerebral amyloid angiopathy, familial
- cerebral amyloid angiopathy, genetic
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amyloid) builds up in the walls of the arteries of the brain (and less frequently, veins). This process is known as amyloid deposition, which can lead to strokes, seizures, neurological deficits, cognitive decline, and dementia. Symptoms usually present before the 5th decade of life. There are many different ways of classifying the types of HCHWA based on the underlying genetic changes, proteins involved, signs and symptoms, and the regions in which they were first described. Based on the region in which they were first described, the subtypes include:Hereditary cerebral hemorrhage with amyloidosis (HCHWA) is a neurological condition in which an abnormal protein (
- The Dutch, Arctic, Piedmont, Iowa, Flemish, Italian types are caused by mutations in the APP gene
- The British and Danish types are caused by mutations in the ITM2B gene
- The Icelandic type is caused by mutations in the CST3 gene
Last updated: 7/19/2016
- Dr Joost HAAN, Dr G.M. [Gisela] TERWINDT. Hereditary cerebral hemorrhage with amyloidosis. Orphanet. February 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458.
- hereditary cerebral amyloid angiopathy. Genetics Home Reference. May 2012; https://ghr.nlm.nih.gov/condition/hereditary-cerebral-amyloid-angiopathy.
- Menon RS. Cerebral Amyloid Angiopathy. Medscape. April 25, 2016; http://emedicine.medscape.com/article/1162720-overview.
- Amyloidosis Awareness is an illustrated booklet for patients and physicians developed by Amyloidosis Support Groups Inc. Versions of the booklet are also available in Spanish and Portuguese.
- Genetics Home Reference (GHR) contains information on Hereditary cerebral hemorrhage with amyloidosis. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary cerebral hemorrhage with amyloidosis. Click on the link to view a sample search on this topic.