Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01034 (cystatin C)
 3,397 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cerebral amyloid angiopathy is a pathologic condition characterized by the deposition of amyloid in the walls of small vessels in the cerebral cortex and meninges. Intracerebral hemorrhage is common in persons with this condition, but pure subarachnoid or subdural hemorrhage is rarely seen. Recently, the existence of two types of amyloid proteins related to cerebral amyloid angiopathy, beta protein and cystatin C, has been reported, and immunohistochemical methods using antisera to these proteins have become available. We describe a patient with fatal subarachnoid hemorrhage presumably caused by beta protein-type cerebral amyloid angiopathy, which was demonstrated immunohistochemically by using a monoclonal antibody to a synthetic peptide corresponding to residues 8-17 of beta protein. We suggest that beta protein-type cerebral amyloid angiopathy is a possible etiologic factor in subarachnoid hemorrhage of unknown cause.
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PMID:Cerebral amyloid angiopathy as a cause of subarachnoid hemorrhage. 230 74

Gelsolin-related amyloidosis (familial amyloidosis, Finnish type) is a rare disorder, reported worldwide in kindreds carrying a G654A or G654T gelsolin gene mutation. Facial palsy, mild peripheral neuropathy, and corneal lattice dystrophy are characteristic, but atrophic bulbar palsy, ataxia of gait, and minor cognitive impairment may occur. In histological and immunohistochemical studies of the central nervous system in 4 patients with a G654A gelsolin mutation, we found widespread spinal, cerebral, and meningeal amyloid angiopathy, with deposition of gelsolin-related amyloid (AGel). Marked extravascular deposits occurred in the dura, spinal nerve roots, and sensory ganglia. The amyloid deposits were also variably immunoreactive for apolipoprotein E (ApoE), alpha1-antichymotrypsin (alpha1-ACT), and cystatin C (Cys C). Cerebral perivascular fibrinogen immunoreactivity was occasionally noted. The patients showed posterior column degeneration and diffuse loss of myelin in the centrum semiovale with perivascular accentuation. Postmortem magnetic resonance imaging, performed on 1 patient, showed white matter lesions, colocalizing with the histological abnormalities. Our study shows that deposition of AGel in the spinal and cerebral blood vessel walls, meninges, as well as spinal nerve roots and sensory ganglia is an essential feature of this form of systemic amyloidosis and may contribute to the central nervous system symptoms.
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PMID:Gelsolin-related spinal and cerebral amyloid angiopathy. 1007 44

Cerebral amyloid angiopathy, a vasculopathy characterised by the deposition of amyloid fibrils in the arteries and arterioles in the cerebral cortex and meninges, has been reported to be associated with intracerebral haemorrhage and cognitive impairment in the elderly. Advances in neuroimaging and validation of the clinical diagnostic criteria aid in making a correct clinical diagnosis. Associations with Alzheimer's disease, asymptomatic microbleeds and white matter changes on neuroimaging have an influence on the clinical treatment for patients with probable cerebral amyloid angiopathy. Reviewing the reports from Asian countries, we found that patients with cerebral amyloid angiopathy have a strong age-related prevalence and a consistent association with dementia, but a weaker correlation with intracerebral haemorrhage, most likely due to a higher incidence of hypertensive intracerebral haemorrhage. Involvement of the occipital lobe arteries by CAA is common in all races and ethnicities, while frontal lobe arteries may be more frequently involved in the East compared to the West. The clinical impact of cerebral amyloid angiopathy on intracerebral haemorrhage and cognitive impairment could be increasingly obvious in Asian countries with ageing populations, especially with improving control of hypertension, the leading cause of intracerebral haemorrhage.
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PMID:Cerebral amyloid angiopathy in East and West. 2085 25