Hypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brain.
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.
Daimon
M
M
Third Department of Internal Medicine, Yamagata University School of Medicine, Japan. mdaimon@med.id.yamagata-u.ac.jp
Moriai
S
S
Susa
S
S
Yamatani
K
K
Hosoya
T
T
Kato
T
T
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
D002570:Ceruloplasmin