Clinical, molecular, and PET study of a case of aceruloplasminaemia presenting with focal cranial dyskinesia

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 75, Issue 2, 2004, Pages 334-337

  Haemers, I ^a   Kono, S ^b   Goldman, S ^a   Gitlin, J D ^b   Pandolfo, M ^a  

^a ERASME HOSPITAL   (Belgium)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; DIAGNOSTIC AGENT; FLUORODEOXYGLUCOSE; FLUORODEOXYGLUCOSE F 18; IRON; PALLADIUM; RADIOPHARMACEUTICAL AGENT;

ACERULOPLASMINEMIA; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BRAIN; CASE REPORT; CAUDATE NUCLEUS; CLINICAL FEATURE; COMPUTER ASSISTED EMISSION TOMOGRAPHY; CORRELATION ANALYSIS; DATA ANALYSIS; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DYSKINESIA; ENZYMOLOGY; FEMALE; GENETIC DISORDER; GENETICS; HUMAN; METABOLISM; MOLECULAR GENETICS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; POINT MUTATION; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL;

BRAIN; CERULOPLASMIN; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DYSKINESIA, DRUG-INDUCED; FEMALE; FLUORODEOXYGLUCOSE F18; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; POINT MUTATION; RADIOPHARMACEUTICALS; TOMOGRAPHY, EMISSION-COMPUTED;

EID: 0842265926     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2003.017434     Document Type: Article

References (22)

1. Nittis T, Gitlin JD. The copper-iron connection: hereditary aceruloplasminemia. Semin Hematol 2002;39:282-9.
2. Yoshida K, Furihata K, Takeda S, et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 1995;9:267-72.
3. Hellman NE, Gitlin JD. Ceruloplasmin metabolism and function. Annu Rev Nutr 2002;22:439-58.
4. Qian ZM, Ke Y. Rethinking the role of ceruloplasmin in brain iron metabolism. Brain Res Brain Res Rev 2001;35:287-294.
5. Harris ZL, Takahashi Y, Miyajima H, et al. Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci U S A 1995;92:2539-43.
6. Harris ZL, Durley AP, Man TK, et al. Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux. Proc Natl Acad Sci U S A 1999;96:10812-7.
7. Klomp LW, Gitlin JD. Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia. Hum Mol Genet 1996;5:1989-96.
8. Patel BN, David S. A novel glycosylphosphatidylinositol-anchored form of ceruloplasmin is expressed by mammalian astrocytes. J Biol Chem 1997;272:20185-90.
9. Patel BN, Dunn RJ, David S. Alternative RNA splicing generates a glycosylphosphatidylinositol-anchored form of ceruloplasmin in mammalian brain. J Biol Chem 2000;275:4305-10.
10. Meyer LA, Durley AP, Prohaska JR, et al. Capper transport and metabolism are normal in aceruloplasminemic mice. J Biol Chem 2001;276:36857-61.
11. Daimon M, Yamatani K, Igarashi M, et al. Fine structure of the human ceruloplasmin gene. Biochem Biophys Res Commun 1995;208:1028-35.
12. Hellman NE, Kano S, Mancini GM, et al. Mechanisms of copper incorporation into human cerulaplasmin. J Biol Chem 2002;277:46632-8.
13. Kaneko K, Yoshida K, Arima K, et al. Astrocytic deformity and globular structures are characteristic of the brains of patients with aceruloplasminemia. J Neuropathol Exp Neurol 2002;61:1069-1977.
14. Curtis AR, Fey C, Morris CM, et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 2001;28:350-4.
15. Zhou B, Westaway SK, Levinson B, et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 2001;28:345-9.
16. Yoshido K, Kaneko K, Miyajima H, et al. Increased lipid peroxidation in the brains of aceruloplasminemia patients. J Neurol Sci 2000;175:91-6.
17. Kono S, Miyajima H, Takahashi Y, et al. Defective electron transfer in complexes I and IV in patients with aceruloplasminemia. J Neurol Sci 2000;182:57-60.
18. Miyajima H, Takahashi Y, Kono S. Glucose and oxygen hypometabolism in aceruloplasminemia brains. Intern Med 2002;41:186-90.
19. Hutchinson M, Nakamura T, Moeller JR, et al. The metabolic topography of essential blepharospasm: a focal dystonia with general implications. Neurology 2000;55:673-7.
20. Miyajima H, Takahashi Y, Kamata T, et al. Use of desferrioxamine in the treatment of aceruloplasminemia. Ann Neurol 1997;41:404-7.
21. Miyajima H, Kono S, Takahashi Y, et al. Estimation of the gene frequency of aceruloplasminemia in Japan. Neurology 1999;53:617-9.
22. Miyajima H, Kono S, Takahashi Y, et al. Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation. Neurology 2001;57:2205-10.