A case of hereditary ceruloplasmin deficiency with hemosiderosis

Clinical Neurology

Volumn 39, Issue 2-3, 1999, Pages 347-351

  Nakane, Shunya ^a   Shirabe, Susumu ^a   Suenaga, Akihito ^a,b   Yoshimura, Toshiro ^a   Nakamura, Tatsufumi ^a  

^a NAGASAKI UNIVERSITY   (Japan)

^b KITAKYUSHU CITY YAHATA HOSPITAL   (Japan)

Author keywords

Basal ganglia siderosis; Diabetes mellitus; Hemochromatosis cerebellar ataxia; Hereditary ceruloplasmin deficiency (HCD)

Indexed keywords

CERULOPLASMIN;

ADULT; ARTICLE; BRAIN SCINTISCANNING; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; ENZYME DEFICIENCY; FAMILY HISTORY; FEMALE; HEMOSIDEROSIS; HUMAN; NEUROLOGIC EXAMINATION;

EID: 0032975154     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Logan JI : Hereditary deficiency of ferroxidase (aka caeruloplasmin). J Neurol Neurosurg Psychiatry 61 : 431-432, 1996
2. Miyajima H, Nishimura Y, Mizoguchi K, et al : Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. Neurology 37 : 761-767, 1987
3. Logan JI, Harveyson KB, Wisdom GB, et al : Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus. Q J Med 87 : 663-670, 1994
4. Monta H, Ikeda S, Yamamoto K, et al : Hereditary ceruloplasmin deficiency with hemosiderosis : a clinicopathological study of a Japanese family. Ann Neurol 37 : 646-656, 1995
5. Kawanami T, Kato T, Daimon M, et al : Hereditary caeruloplasmin deficiency : clinicopathological study of a patient. J Neurol Neurosurg Psychiatry 61 : 506-509, 1996
6. Okamoto N, Wada S, Oga T, et al : Hereditary ceruloplasmin deficiency with hemosiderosis. Hum Genet 97 : 755-758, 1996
7. Takahashi Y, Miyajima H, Shirabe S, et al : Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. Hum Mol Genet 5 : 81-84, 1996
8. Koeppen AH, Dentinger MP : Brain hemosiderin and superficial siderosis of the central nervous system. J Neuropathol Exp Neurol 47 : 249-270, 1988
9. Klomp LWJ, Gitlin JD : Expression of the ceruloplasmin gene in the human retina and brain : implications for a pathogenic model aceruloplasminemia. Hum Mol Genet 5 : 1989-1996, 1996
10. Sasaki H, Yamatani K, Kato T, et al : Hereditary ceruloplasmin deficiency - a new type of diabetes mellitus Int Med 35 : 596-597, 1996
11. Miyajima H, Takahashi Y, Shimizu H, et al : Late onset diabetes mellitus in patients with hereditary aceruloplasminemia. Int Med 35 : 641-645, 1996
12. Miyajima H, Takahashi Y, Serizawa M, et al : Increased plasma lipid peroxidation in patients with aceruloplasminemia. Free Radical Biol Med 20 : 757-760, 1996
13. Kahn JK, Sisson JC, Vinik AI : Prediction of sudden cardiac death in diabetic autonomic neuropathy. J Nucl Med 29 : 1605-1606, 1988