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

✍ Scribed by Hui-Fang Shang; Xiao-Feng Jiang; Jean-Marc Burgunder; Qin Chen; Dong Zhou

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 118 KB
Volume: 21
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21121

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✦ Synopsis

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. © 2006 Movement Disorder Society

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