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A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: Description of clinical features and implications for genotype–phenotype correlations
Author(s) -
Kubota Akatsuki,
Hida Ayumi,
Ichikawa Yaeko,
Momose Yoshio,
Goto Jun,
Igeta Yukifusa,
Hashida Hideji,
Yoshida Kunihiro,
Ikeda SyuIchi,
Kanazawa Ichiro,
Tsuji Shoji
Publication year - 2009
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.22435
Subject(s) - exon , genetics , phenotype , genotype , mutation , biology , gene duplication , gene , ferritin , gene mutation , biochemistry
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 the clinical traits with those previously reported. All mutations but one are insertions in exon 4, resulting in frameshifts. Clinical features are similar among patients with the same mutations. Middle‐age onset chorea is common in patients with insertions in the 5′ portion of exon 4 including our cases, whereas patients with insertions in the 3′ portion of exon 4 develop early‐onset tremor, suggesting genotype–phenotype correlations. In this family, male predominance and normal serum ferritin levels are characteristic. © 2008 Movement Disorder Society