Hereditary cystatin C amyloid angiopathy

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Hereditary cystatin C amyloid angiopathy
Synonyms Hereditary cerebral hemorrhage with amyloidosis
Crystal structure of human cystatin C monomer.png
Cystatin C(or Cystatin 3) which is involved in this condition

Hereditary cystatin C amyloid angiopathy (HCCAA) is a rare, fatal amyloid disease in young people in Iceland caused by a mutation in cystatin C. Most of the families with the defect gene can be traced to a region in the northwest of Iceland, around Breiðafjörður.[1]

Mutations in the cystatin 3 gene are responsible for the Icelandic type of hereditary cerebral amyloid angiopathy, a condition predisposing to intracerebral haemorrhage, stroke and dementia.[2][3] The condition is inherited in a dominant fashion.

References[edit]

  1. ^ "Hereditary cystatin C amyloid angiopathy: genetic, clinical, and pathological aspects". Brain Pathol. 16 (1): 55–9. Jan 2006. doi:10.1111/j.1750-3639.2006.tb00561.x. PMID 16612982. 
  2. ^ Levy E, Lopez-Otin C, Ghiso J, Geltner D, Frangione B (May 1989). "Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases". J. Exp. Med. 169 (5): 1771–8. doi:10.1084/jem.169.5.1771. PMC 2189307Freely accessible. PMID 2541223. 
  3. ^ Levy, E; Jaskolski, M; Grubb, A (January 2006). "The role of cystatin C in cerebral amyloid angiopathy and stroke: cell biology and animal models". Brain Pathol. 16 (1): 60–70. doi:10.1111/j.1750-3639.2006.tb00562.x. PMID 16612983. 


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Classification
External resources