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...

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Bibliographic Details
Published in:	Neuroradiology Vol. 41; no. 3; pp. 185 - 187
Main Authors:	DAIMON, M, MORIAI, S, SUSA, S, YAMATANI, K, HOSOYA, T, KATO, T
Format:	Conference Proceeding Journal Article
Language:	English
Published:	Berlin Springer 01-03-1999
Subjects:	Aged Biological and medical sciences Ceruloplasmin - deficiency Ceruloplasmin - genetics Diabetes Mellitus Echo-Planar Imaging Errors of metabolism Female Humans Male Medical sciences Metabolic diseases Point Mutation Proteins and glycoproteins Putamen - pathology Tremor Human Ferroxidase Enzyme Deficiency Glycoprotein Metabolic diseases Male Genetic determinism Nuclear magnetic resonance imaging Genetic disease Case study Hypoceruloplasminemia Allele Gene Medical imagery Female Oxidoreductases Diagnosis Mutation Elderly
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0028-3940 1432-1920
DOI:	10.1007/s002340050730