Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.
It has been described in 9 sub-families in Icelandic families to date.
Disease onset occurs between the ages of 20-30. Unlike other forms of HCHWA, major systemic amyliodosis and recurrent lobar hemorrhages do occur.
Unlike other forms of HCHWA, it is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C.
Transmission is autosomal dominant.
Last update: February 2013
- Dr Joost HAAN
- Dr Gisela TERWINDT