title: Hypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brain.
abstract: We present two patients with hypocaeruloplasminaemia and a heteroallelic caeruloplasmin gene mutation (HypoCPGM). These patients had diabetes mellitus and tremor of the hands, respectively. T2-weighted fast spin-echo MRI showed mildly reduced intensity of the putamen, much more marked on echo-planar imaging.
authors: Third Department of Internal Medicine, Yamagata University School of Medicine, Japan. mdaimon@med.id.yamagata-u.ac.jp
authors: M
authors: M
authors: Daimon
authors: S
authors: S
authors: Moriai
authors: S
authors: S
authors: Susa
authors: K
authors: K
authors: Yamatani
authors: T
authors: T
authors: Hosoya
authors: T
authors: T
authors: Kato
mesh_terms: D000368:Aged; D002570:Ceruloplasmin / Q000172:deficiency* / Q000235:genetics*; D003920:Diabetes Mellitus; D017352:Echo-Planar Imaging; D005260:Female; D006801:Humans; D008297:Male; D017354:Point Mutation; D011699:Putamen / Q000473:pathology*; D014202:Tremor
chemical_list: D002570:Ceruloplasmin