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Mov Disord. 2006 Dec;21(12):2217-20.

Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus.

Author information

1
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China. hfshang@yahoo.com

Abstract

In a Chinese woman who had diabetes mellitus, undetectable ceruloplasmin, hand tremor, neck dystonia, and cognitive disturbances, genetic analyses revealed a novel homozygous mutation (848G > C or W283S) in exon 5 in the ceruloplasmin gene. Another member with a milder phenotype was also affected by this mutation. The healthy sister was heterozygous at the same position. Aceruloplasminemia has not yet been reported in China. This case suggests that increased awareness should be paid to this disorder in the presence of the typical symptoms.

PMID:
17013908
DOI:
10.1002/mds.21121
[Indexed for MEDLINE]
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