title: A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.
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.
authors.affiliation: Department of Neurology, The University of Tokyo, Tokyo, Japan.
authors.forename: Akatsuki
authors.initials: A
authors.lastname: Kubota
authors.forename: Ayumi
authors.initials: A
authors.lastname: Hida
authors.forename: Yaeko
authors.initials: Y
authors.lastname: Ichikawa
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Momose
authors.forename: Jun
authors.initials: J
authors.lastname: Goto
authors.forename: Yukifusa
authors.initials: Y
authors.lastname: Igeta
authors.forename: Hideji
authors.initials: H
authors.lastname: Hashida
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Yoshida
authors.forename: Syu-Ichi
authors.initials: S
authors.lastname: Ikeda
authors.forename: Ichiro
authors.initials: I
authors.lastname: Kanazawa
authors.forename: Shoji
authors.initials: S
authors.lastname: Tsuji
mesh_terms: D000328:Adult; D001052:Apoferritins / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D018450:Disease Progression; D005091:Exons; D005293:Ferritins / Q000235:genetics / Q000378:metabolism*; D015870:Gene Expression / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009069:Movement Disorders / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D012720:Severity of Illness Index
chemical_list: D005293:Ferritins; D001052:Apoferritins