Article
[Clinical features of neuroferritinopathy].
Rinsho shinkeigaku = Clinical neurology - 1 May 2009
Ohta Emiko, Nagasaka Takamura, Shindo Kazumasa, Toma Shinobu, Nagasaka Kaori, Miwa Michiaki, Takiyama Yoshihisa, Shiozawa Zenji
Abstract excerpt
Neuroferritinopathy is an autosomal dominant basal ganglia disease with iron accumulation caused by a mutation of the gene encoding ferritin light polypeptide (FTL). Six pathogenic mutations in the FTL gene have so far been reported. One such mutation was found in a Japanese family, thus suggesting that a new mutation in the FTL gene can therefore occur anywhere in the world. The typical clinical features of...
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