High brain iron level in asymptomatic carriers of heterozygous ceruloplasmin gene mutations

Movement Disorders

Volumn 23, Issue 6, 2008, Pages 916-917

  Chen, Qin ^a   Chen, Xue Ping ^a   Zou, Ling ^b   Zhou, Dong ^a   Gong, Q Y ^a,c   Burgunder, Jean Marc ^a,d   Shang, Hui Fang ^a  

^a SICHUAN UNIVERSITY   (China)

^b SICHUAN UNIVERSITY   (China)

^c UNIVERSITY OF LIVERPOOL   (United Kingdom)

^d UNIVERSITY OF BERN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CERULOPLASMIN; IRON;

ACEROPLASMINEMIA; ADULT; BRAIN DISEASE; BRAIN LEVEL; CASE REPORT; CAUDATE NUCLEUS; CERULOPLASMIN BLOOD LEVEL; CHINESE; CONTROLLED STUDY; DENTATE NUCLEUS; DIAGNOSTIC ACCURACY; DIFFUSION TENSOR IMAGING; FEMALE; GENE MUTATION; GLOBUS PALLIDUS; HETEROZYGOSITY; HUMAN; IRON BRAIN LEVEL; LETTER; PRIORITY JOURNAL; PUTAMEN; RED NUCLEUS; SUBSTANTIA NIGRA; THALAMUS; BASAL GANGLION; BRAIN; GENETICS; HETEROZYGOTE; HETEROZYGOTE DETECTION; MALE; METABOLISM; MIDDLE AGED; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; SIBLING;

BASAL GANGLIA; BRAIN; CARRIER STATE; CERULOPLASMIN; FEMALE; HETEROZYGOTE DETECTION; HUMANS; IRON; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; RED NUCLEUS; SIBLINGS; SUBSTANTIA NIGRA; THALAMUS;

EID: 48649086379     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21980     Document Type: Letter

References (7)

1. Hellman NE, Gitlin JD. Ceruloplasmin metabolism and function. Annu Rev Nutr 2002;22:439-458.
2. Shang HF, Jiang XF, Burgunder JM, Chen Q, Zhou D. Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus. Mov Disord 2006;21: 2217-2220.
3. Daimon M, Susa S, Ohizumi T, et al. A novel mutation of the ceruloplasmin gene in a patient with heteroallelic ceruloplasmin gene mutation (HypoCPGM). Tohoku J Exp Med 2000;191:119-125.
4. Miyajima H, Kono S, Takahashi Y, Sugimoto M, Sakamoto M, Sakai N. Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation. Neurology 2001;57:2205-2210.
5. Daimon M, Moriai S, Susa S, Yamatani K, Hosoya T, Kato T. Hypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brain. Neuroradiology 1999;41:185-187.
6. Haemers I, Kono S, Goldman S, Gitlin JD, Pandolfo M. Clinical, molecular, and PET study of a case of aceruloplasminaemia presenting with focal cranial dyskinesia. J Neurol Neurosurg Psychiatry 2004;75:334-337.
7. Miyajima H, Nishimura Y, Mizoguchi KS, Kamoto M, Shimizu T, Honda N. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. Neurology 1987;37: 761-767.