Article
Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation.
Neurology - 26 Dec 2001
Miyajima H, Kono S, Takahashi Y, Sugimoto M, Sakamoto M, Sakai N
Abstract excerpt
BACKGROUND: Aceruloplasminemia, an autosomal recessive disorder that affects human iron metabolism, is caused by mutation of the ceruloplasmin gene. Heterozygous individuals with a partial ceruloplasmin deficiency may have normal iron metabolism and no clinical symptoms. METHODS: The authors clinically characterized three Japanese patients from two families who had cerebellar ataxia with hypoceruloplasminemia...
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