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

Shang, Hui-Fang; Jiang, Xiao-Feng; Burgunder, Jean-Marc; Chen, Qin; Zhou, Dong (2006). Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus. Movement disorders, 21(12), pp. 2217-20. Hoboken, N.J.: Wiley-Blackwell 10.1002/mds.21121

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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.

Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology
UniBE Contributor:	Burgunder, Jean-Marc
ISSN:	0885-3185
ISBN:	17013908
Publisher:	Wiley-Blackwell
Language:	English
Submitter:	Factscience Import
Date Deposited:	04 Oct 2013 14:50
Last Modified:	05 Dec 2022 14:15
Publisher DOI:	10.1002/mds.21121
PubMed ID:	17013908
Web of Science ID:	000243158700034
URI:	https://boris.unibe.ch/id/eprint/20957 (FactScience: 4769)