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cerebroarterial amyloidosis

Monday 29 November 2004

cerebral amyloid angiopathy

Cerebral amyloid angiopathy is defined by the deposition of congophilic material in the vessels of the cortex and leptomeninges. It is a major cause of intracerebral hemorrhage in the elderly.

Amyloidosis type 6 is caused by mutation in the gene encoding cystatin C (CST3) (MIM.604312), located on chromosome 20p11.2.

The so-called British type of cerebral amyloid angiopathy (MIM.176500) caused by mutation in the ITM2B gene (MIM.603904)

The Dutch type (MIM.609065) is caused by mutation in the APP gene (MIM.104760).

Cerebral amyloid angiopathy has also been observed with high density lipoprotein deficiency (MIM.604091) caused by mutation in the ABCA1 gene (MIM.600046).


- amyloid polypeptide precursor mutations (APP mutations)

  • dutch type cerebroarterial amyloidosis
  • artic type cerebroarterial amyloidosis
  • italian type cerebroarterial amyloidosis
  • Iowa type cerebroarterial amyloidosis

- cystatin C mutations (CST3 mutations)

  • icelandic type (MIM.105150)

Etiology (exemples)

- germline mutations in the APP protein
- germline mutations in cystatin C (CST3) (MIM.604312)

See also

- amyloidoses