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Icelandic-type cerebral amyloid angiopathy
Etiology:
- mutation in cystatin C gene resulting in formation of gamma-trace amyloid
Epidemiology:
- Icelandic families
- 80% < 40 yrs old
Clinical manifestations: sudden catastrophic, often multifocal cerebral hemorrhages
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
Laboratory: low cystatin C in CSF
Interactions
disease interactions
General
cerebral amyloid angiopathy (CAA)
genetic disease of the central nervous system
Properties
PROTEIN-PRECURSOR: cystatin-C
Database Correlations
OMIM 105150
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: 11557758