Cystatin C amyloid angiopathy

Olafsson, I., and Grubb, A. (2000). Hereditary cystatin C amyloid angiopathy. Amyloid 7, 70-79. 

Fig. 14. Transmission in two families of the allele causing hereditary cystatin C amyloid angiopathy, HCCAA (also called hereditary cerebral hemorrhage with amyloidosis, HCHWA).

A4. Abrahamson, M., and Grubb, A., Increased body temperature accelerates aggregation of the Leu-68 Gin mutant cystatin C, the amyloid-forming protein in hereditary cystatin C amyloid angiopathy. Proc. Natl. Acad. Sci. (USA) 91(4), 1416-1420 (1994). 

A5. Abrahamson, M., Islam, M. Q., Szpirer, J., Szpirer, C., and Levan G., The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20. Hum. Genet. 82(3), 223-226 (1989). 

A6. Abrahamson, M., Jonsdottir, S., Olafsson, I., Jensson, O., and Grubb A., Hereditary cystatin C amyloid angiopathy Identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis. Hum. Genet. 89(4), 377—380 (1992). 

Olafsson, I., Thorsteinsson, L., and Jensson, O., The molecular pathology of hereditary cystatin C amyloid angiopathy causing brain hemorrhage. Brain Pathol. 6(2), 121-126 (1996). 

J2. Jensson, O., Gudmundsson, G., Arnason, A., Blondal, H., Petursdottir, I., et al., Hereditary cystatin C (y -trace) amyloid angiopathy of the CNS causing cerebral hemorrhage. Acta Neurol. Scand. 76, 102-114 (1987). 

M6. Maruyama, K., Kametani, F., Ikeda, S., Ishihara, T., and Yanagisawa, N., Characterization of amyloid fibril protein from a case of cerebral amyloid angiopathy showing immunohistochemical reactivity for both 3 protein and cystatin C. Neurosci. Lett. 144(1-2), 38-42 (1992). 

M8. McCarron, M. O., Nicoll, J. A. R., Stewart, J., Ironside, J. W., Mann, D. M. A., etal., Absence of cystatin C mutation in sporadic cerebral amyloid angiopathy-related hemorrhage. Neurology 54, 242-244 (2000). 

Nl. Nagai, A., Kobayashi, S., Shimode, K., Imaoka, K., Umegae, N., etal., No mutations in cystatin C gene in cerebral amyloid angiopathy with cystatin C deposition. Mol. Chem. Neuropathol. 33(1), 63-78 (1998). 

Shimode, K., Fujihara, S., Nakamura, M., Kobayashi, S., and Tsunematsu, T., Diagnosis of cerebral amyloid angiopathy by enzyme-linked immunosorbent assay of cystatin C in cerebrospinal fluid. Stroke 22(7), 860-866 (1991). 

Icelandic hereditary cerebral amyloid angiopathy Mutant of cystatin C Local... 

Cystatin C (ACys) L68Q mutation (Ghiso et al. 1986) Hereditary renal amyloidosis, hereditary cerebral amyloid angiopathy... 

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