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ABetaL34V amyloidosis
Disease definition
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. 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.
ORPHA:324703
Classification level: Subtype of disorder- Synonym(s):
- ABeta amyloidosis, Piedmont type
- ABetaL34V-related amyloidosis
- HCHWA, Piedmont type
- Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Adult, Elderly
- ICD-10: E85.4+ I68.0*
- OMIM: 605714
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2013, pdf)
- Review article
- English (2011)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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