Search for a rare disease
ABetaL34V amyloidosis
Disease definition
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.
ORPHA:324703
- 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: -
Summary
Epidemiology
It has been found in only one Italian family.
Etiology
HCHWA, Piedmont type is due to a mutation in the APP gene on chromosome 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.
Genetic counseling
Transmission is autosomal dominant.
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2013, pdf)
- Review article
- English (2011)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.