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

✍ Scribed by Akatsuki Kubota; Ayumi Hida; Yaeko Ichikawa; Yoshio Momose; Jun Goto; Yukifusa Igeta; Hideji Hashida; Kunihiro Yoshida; Syu-Ichi Ikeda; Ichiro Kanazawa; Shoji Tsuji

• Publisher: John Wiley and Sons
• Year: 2008
• Tongue: English
• Weight: 905 KB
• Volume: 24
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.22435

✦ Synopsis

Abstract

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