Aceruloplasminaemia with progressive atrophy without brain iron overload: Treatment with oral chelation

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 79, Issue 4, 2008, Pages 467-470

  Skidmore, Frank M ^a   Drago, V ^a   Foster, P ^a   Schmalfuss, I M ^b   Heilman, K M ^a   Streiff, R R ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALBUMIN; AMITRIPTYLINE; CHELATING AGENT; COPPER; DEFEROXAMINE; FERRITIN; FLUOXETINE; FRESH FROZEN PLASMA; GABAPENTIN; HEMOGLOBIN; IRON; NEFAZODONE; RISPERIDONE; SERTRALINE; THROMBOPLASTIN; VALPROIC ACID; VENLAFAXINE;

ACERULOSPLASMINAEMIA; ADULT; ANAMNESIS; ARTICLE; ATAXIA; BRADYKINESIA; BRAIN ATROPHY; CASE REPORT; CHOREA; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; DYSARTHRIA; FEMALE; HUMAN; HUMAN TISSUE; IRON METABOLISM; IRON METABOLISM DISORDER; IRON OVERLOAD; LABORATORY TEST; LIVER BIOPSY; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPASTICITY; SPEECH DISORDER; TREATMENT OUTCOME;

ATROPHY; BENZOIC ACIDS; BIOPSY; BRAIN; CERULOPLASMIN; CHELATION THERAPY; CHOREA; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; FEMALE; FERRITINS; GAIT DISORDERS, NEUROLOGIC; HUMANS; IRON OVERLOAD; LIVER; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MUSCLE SPASTICITY; MUSCLE, SKELETAL; NEURODEGENERATIVE DISEASES; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; SPLEEN; TRIAZOLES;

EID: 41149150199     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2007.120568     Document Type: Article

References (20)

1. 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.
2. Yonekawa M, Okabe T, Asamoto Y, et al. A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus, and retinal pigmentation: administration of reshfrozen human plasma. Eur Neurol 1999;42:157-62.
3. Yamaguchi K, Takahashi S, Kawanami T, et al. Retinal degeneration in hereditary ceruloplasmin deficiency. Opthalmologica 1998;212:11-14.
4. Okamoto N, Wada S, Oga T, et al. Hereditary ceruloplasmin deficiency with hemosiderosis. Hum Genet 1996;97:755-8.
5. Roth HL, Okun MS, Heilman KM. The crossed response task: A lateralizing measure of frontal lobe dysfunction. Presented at the International Neuropsychology Society, Denver, CO, February 2000, Abstract. J Int Neuropsychol Soc 2000;6:109.
6. Bhimani AA, Hlustik P, Small SL, et al. Complex motor function in humans: validating and extending the postulates of Alexandr R. Luria. Cogn Behav Neurol 2006;19:11-20.
7. Danrad R, Martin DR. MR imaging of diffuse liver diseases. Magn Reson Imaging Clin Am 2005;13:277-93.
8. Miyajima H. Aceruloplasminemia, an iron metabolic disorder. Neuropathology 2003;23:345-50.
9. McLaren GD, Muir WA, Kellermeyer RW. Iron overload disorders: natural history, pathogenesis, diagnosis, and therapy. Crit Rev Clin Lab Sci 1983;19:205-66.
10. Junck L, Gilman S, Gebarski SS, et al. Structural and functional brain imaging in Friedreich's ataxia. Arch Neurol 1994;51:349-55.
11. Bhidayasiri R, Perlman SL, Pulst SM, et al. Late-onset Friedreich ataxia: Phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol 2005;62:1865-9.
12. Bradley JL, Blake JC, Chamberlain S, et al. Clinical, biochemical, and molecular genetic correlations in Friedrech's ataxia. Hum Mol Genet 2000;9:275-82.
13. Kono S, Miyajima H. Molecular and pathological basis of aceruloplasminemia. Biol Res 2006;39:15-23.
14. Miyajima H, Kono S, Takahashi Y, et al. Increased lipid peroxidation and mitochondrial dysfunction in aceruloplasminemia brains. Blood Cells Mol Dis 2002;29:433-8.
15. Kohno 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.
16. Vasin AV, Klotchenko SA, Platonova NA, et al. Identification of the rat ceruloplasmin mRNA isoform putative coded of a protein localized in mitochondria. Mol Biol 2005;39:933-44.
17. Lee JH, Seo DW, Lee YS, et al. Proton magnetic resonance spectroscopy (1 H-MRS) findings for the brain in patients with liver cirrhosis reflect the hepatic functional reserve. Am J Gastroenterol 1999;94:2206-13.
18. Watanabe A. Cerebral changes in hepatic encephalopathy. J Gastroenterol Hepatol 1998;13:752-60.
19. Amodio P, Montagnese S, Gatta A, Morgan MY. Characteristics of minimal hepatic encephalopathy. Metab Brain Dis 2004;19:253-67.
20. Ardizzone G, Arrigo A, Schellino MM, et al. Neurological complications of liver cirrhosis and orthotopic liver transplant. Transplant Proc 2006;38:789-92.