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ABetaL34V amyloidosis

ORPHA324703
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
UMLS -
MeSH -
MedDRA -

Summary

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.

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.

Expert reviewer(s)

  • Dr Joost HAAN
  • Dr G.M. [Gisela] TERWINDT

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