Hereditary ceruloplasmin deficiency: A cerebro-retino-diabetic disease

Neuropathology

Volumn 17, Issue 2, 1997, Pages 71-75

  Kato, Takeo ^a   Kawanami, Toru ^a   Daimon, Makoto ^a   Sasaki, Hideo ^a  

^a YAMAGATA UNIVERSITY   (Japan)

Author keywords

Dementia; Diabetes mellitus; Hereditary ceruloplasmin deficiency; Iron deposition; Pancreas

Indexed keywords

CERULOPLASMIN; INSULIN; IRON;

AUTOSOMAL RECESSIVE INHERITANCE; BRAIN; CAUDATE NUCLEUS; CEREBELLAR ATAXIA; DEGENERATIVE DISEASE; DEMENTIA; DIABETES MELLITUS; DISEASE COURSE; DYSKINESIA; HUMAN; IRON STORAGE; LIVER; NERVE CELL NECROSIS; NEUROLOGIC DISEASE; PANCREAS; PANCREAS ISLET CELL; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PUTAMEN; RETINA DEGENERATION; REVIEW;

EID: 0030749339     PISSN: 09196544     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1440-1789.1997.tb00016.x     Document Type: Review

References (21)

1. Miyajima H, Nishimura Y, Mizoguchi K, Sakamoto M, Shimizu T, Honda N. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. Neurology 1987; 37: 1-6.
2. Logan JI, Harveyson KB, Wisdom GB, Hughes AE, Archbold GPR. Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus. Q. J. Med. 1994; 87: 663-670.
3. Morita H, Ikeda S, Yamamoto K et al. Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a Japanese family. Ann. Neural. 1995; 37:646-656.
4. Kawanami T, Kalo T, Daimon M et al. Hereditary caeruloplasmin deficiency: Clinicopathological study of a patient. J. Neural. Neurosurg. Psychiat. 1996; 61: 506-509.
5. Yoshida K, Furihata K, Takeda S et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nature Genet. 1995; 9: 267-272.
6. Harris ZL, Takahashi Y, Miyajima H et al. Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism. Proc. Natl Acad. Sci. USA 1995; 92:2539-2543.
7. Daimon M, Kato T, Kawanami T et al. A nonsense mutation of the ceruloplasmin gene in hereditary ceruloplasmin deficiency with diabetes mellitus. Biochem. Biophys. Res. Commun. 1995; 217: 89-95.
8. Takahashi Y, Miyajima H, Shirabe S, Nagataki S, Suenaga A, Gitlin JD. Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. Hum. Mol. Genet. 1996; 5: 81-84.
9. Roeser HP, Lee GR, Nacht S et al. The role of ceruloplasmin in iron metabolism. J. Clin. Invest. 1970; 49: 2408-2417.
10. Logan JI. Hereditary deficiency of ferroxidase (aka caeruloplasmin). J. Neural. Neurosurg. Psychiat. 1996; 61: 431-432.
11. Kato T, Daimon M, Kawanami T, Ikezawa Y, Sasaki H, Maeda K. Islet changes in hereditary ceruloplasmin deficiency. Hum. Pathol. 1977; 28.
12. Miyajima H, Takahashi Y, Shimizu H, Sakai N, Kamata T, Kaneko E. Late onset diabetes mellitus in patients with hereditary aceruloplasminemia. Intern. Med. 1996; 35: 641-645.
13. Kawanami T, Kato T, Daimon M et al. Neuropathological examination of the brain in an autopsy case of hereditary ceruloplasmin deficiency. Neuropatliology 1996; 16 (Suppl.): 223.
14. Harris ZL, Migas MC, Hughes AE, Logan JI, Gitlin JD. Familial dementia due to a frameshift mutation in the caeruloplasmin gene. Q. J. Med. 1996; 89: 355-359.
15. Okamoto N, Wada S, Oga T et al. Hereditary ceruloplasmin deficiency with hemosiderosis. Hum. Genet. 1996; 97: 755-758.
16. Miyajima H, Takahashi Y, Serizawa M, Kaneko E, Gitlin JD. Increased plasma lipid peroxidation in patients with aceruloplasminemia. Free Radie. Biol. Med. 1996; 20: 757-760.
17. Fischer LJ, Hamburger SA. Impaired insulin release after exposure of pancreatic islets to autooxidizing dihydroxyfumarate. Endocrinology 1981; 108: 2311-2330.
18. Malaisse WJ, Malaisse-Lagae F, Sener A et al. Determinants of the selective toxicity of alloxan to the pancreatic B cell. Proc. Natl Acad. Sci. USA 1982; 79: 927-930.
19. Mendola J, Wright JR Jr, Lacy PE. Oxygen free-radical scavengers and immune destruction of murine islets in allograft rejection and multiple low-dose streptozocininduced insulitis. Diabetes 1989; 38: 379-385.
20. Daimon M, Yamatani K, Tominaga M, Manaka H, Kalo T, Sasaki H. Non-insulin dependent diabetes mellitus with a ceruloplasmin gene mutation. Diabetes Care (in press).
21. Sasaki H, Yamatani K, Kato T, Kawanami T. Hereditary ceruloplasmin deficiency: A new type of diabetes mellitus. Intern. Med. 1996; 35:596-597.