Icelandic-type cerebral amyloid angiopathy
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Etiology
- mutation in cystatin C gene resulting in formation of gamma-trace amyloid
Epidemiology
- Icelandic families
- 80% < 40 yrs old
Pathology
- intraparenchymal and/or meningeal blood vessels with extensive amyloid infiltration
- hemorrhages generally in cortical and cortico-subcortical (lobar) brain regions where vascular amyloid deposits are most frequent, also basal ganglia, brainstem and less often cerebellum
- mainly affects small arteries and arterioles
- silent amyloid deposits also in skin, lymph node, spleen, salivary glands and seminal vesicle
Clinical manifestations
sudden catastrophic, often multifocal cerebral hemorrhages
Laboratory
low cystatin C in CSF
More general terms
References
- ↑ OMIM 105150
- ↑ Ghiso JA, Holton J, Miravalle L, Calero M, Lashley T, Vidal R, Houlden H, Wood N, Neubert TA, Rostagno A, Plant G, Revesz T, Frangione B. Systemic amyloid deposits in familial British dementia. J Biol Chem. 2001 Nov 23;276(47):43909-14. Epub 2001 Sep 13. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11557758