[Aceruloplasminemia].
Ceruloplasmin is an abundant alpha 2-serum glycoprotein that contains greater than 95% of the copper present in human plasma. It is synthesized mainly in the liver. Aceruloplasminemia is an autosomal recessive disorder affecting iron metabolism, originally called familial apoceruloplasmin deficiency, which manifests late-onset blepharospasm and retinal degeneration. Subsequent investigations have found patients with late adult onset of ataxia and diabetes mellitus. Our patients have also shown diabetes. Clinically, aceruloplasminemia is a triad consisting of neurologic disease, retinal degeneration, and diabetes. This disease is characterized by mutations in the ceruloplasmin gene and iron accumulation in the retina and basal ganglia as well as in parenchymal tissues caused by a complete deficiency of ceruloplasmin ferroxidase activity. The neurological symptoms in affected patients include involuntary movements, ataxia, and dementia reflecting the sites of iron deposition detected by MRI as well as the regions of neurodegeneration observed at autopsy. Consistent with this observation, ceruloplasmin gene expression is detected in the retina and basal ganglia revealing that this protein is essential for iron homeostasis neuron survival in the central nervous system. The unique involvement of the central nervous system distinguishes aceruloplasminemia from other inherited and acquired iron storage disorders.
Miyajima
H
H
First Department of Medicine, Hamamatsu University School of Medicine.
D000328:Adult; D000368:Aged; D001921:Brain / Q000378:metabolism / Q000473:pathology; D002570:Ceruloplasmin / Q000172:deficiency* / Q000235:genetics; D003300:Copper / Q000378:metabolism; D003920:Diabetes Mellitus / Q000209:etiology; D006801:Humans; D007501:Iron / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation; D009422:Nervous System Diseases / Q000209:etiology; D012162:Retinal Degeneration / Q000209:etiology
D003300:Copper; D007501:Iron; D002570:Ceruloplasmin