• Biology, Medicine
  • Published in
    Movement disorders : official…
    2009
  • DOI:10.1002/mds.22435

A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.

@article{Kubota2009ANF,
  title={A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.},
  author={Akatsuki Kubota and Ayumi Hida and Yaeko Ichikawa and Yoshio Momose and Jun Goto and Yukifusa Igeta and Hideji Hashida and Kunihiro Yoshida and Syu-Ichi Ikeda and Ichiro Kanazawa and Shoji Tsuji},
  journal={Movement disorders : official journal of the Movement Disorder Society},
  year={2009},
  volume={24 3},
  pages={
          441-5
        }
}
Neuroferritinopathy is a hereditary neurodegenerative disorder caused by mutations in the ferritin light chain gene (FTL1). The cardinal features are progressive movement disturbance, hypoferritinemia, and iron deposition in the brain. To date, five mutations have been described in Caucasian and Japanese families, but the genotype-phenotype correlations remain to be established. We identified a novel FTL1 mutation (exon 4, c.641/642, 4-nucletotide duplication) in a Japanese family and compared… CONTINUE READING

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