ABeta amyloidosis, Arctic type

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ABeta amyloidosis, Arctic type

Synonyms: ABetaE22G amyloidosis | HCHWA, Arctic type | Hereditary cerebral hemorrhage with amyloidosis, Arctic type

A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 54-61 years and progressive Alzheimer’s disease-like dementia. This subtype is due to a mutation in the APP gene (21q21.2) encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges cerebellar cortex and cerebral cortex leading to the weakening and eventual rupture of these vessels.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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ABeta amyloidosis, Arctic type?

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Advocacy Organizations

New Zealand Amyloidosis Patients Association

To make a positive and lasting impact in New Zealand, helping Amyloidosis disease patients from various disease subgroups ( AL, AA, hATTR, Wild Type) by working with local and international doctors, pharma treatment entities, as well as government agencies to bring approved funded treatment drugs into NZ for suffering patients. We desire to help build a lasting support system within the NZ health framework. We want an excellent wrap-around network of care to achieve for the sufferer to achieve a positive outcome in their well-being. This mission includes the wellness of the patient's caregiver and family whose needs, we feel, have been neglected.

Clinical Trials

For a list of clinical trials in this disease area, please click here.