title: Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus.
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.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China. hfshang@yahoo.com
authors.forename: Hui-Fang
authors.initials: HF
authors.lastname: Shang
authors.forename: Xiao-Feng
authors.initials: XF
authors.lastname: Jiang
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Burgunder
authors.forename: Qin
authors.initials: Q
authors.lastname: Chen
authors.forename: Dong
authors.initials: D
authors.lastname: Zhou
mesh_terms: D002570:Ceruloplasmin / Q000235:genetics*; D003072:Cognition Disorders / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D048909:Diabetes Complications / Q000150:complications / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008875:Middle Aged; D009069:Movement Disorders / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D012694:Serine / Q000235:genetics; D014364:Tryptophan / Q000235:genetics
chemical_list: D012694:Serine; D014364:Tryptophan; D002570:Ceruloplasmin