title: FTL mutation in a Chinese pedigree with neuroferritinopathy.
abstract: Neuroferritinopathy is a rare autosomal dominant movement disorder caused by mutations of the FTL gene.(1) It is clinically characterized by adult-onset progressive extrapyramidal syndrome, including chorea, dystonia, and parkinsonism.(2) Brain MRI demonstrates the deposition of iron and ferritin in the basal ganglia.(3) To date, several Caucasian families and 2 Japanese families have been reported worldwide.(2) We present a Chinese neuroferritinopathy pedigree with 5 patients and the FTL mutation.
authors.affiliation: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital (W.N., H.-F.L., Z.-Y.W.), and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine; and The High School Affiliated to Fudan University-WLSA Fudan Academy (Y.-C.Z.), Shanghai, China.
authors.forename: Wang
authors.initials: W
authors.lastname: Ni
authors.affiliation: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital (W.N., H.-F.L., Z.-Y.W.), and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine; and The High School Affiliated to Fudan University-WLSA Fudan Academy (Y.-C.Z.), Shanghai, China.
authors.forename: Hong-Fu
authors.initials: HF
authors.lastname: Li
authors.affiliation: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital (W.N., H.-F.L., Z.-Y.W.), and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine; and The High School Affiliated to Fudan University-WLSA Fudan Academy (Y.-C.Z.), Shanghai, China.
authors.forename: Yi-Cen
authors.initials: YC
authors.lastname: Zheng
authors.affiliation: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital (W.N., H.-F.L., Z.-Y.W.), and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine; and The High School Affiliated to Fudan University-WLSA Fudan Academy (Y.-C.Z.), Shanghai, China.
authors.forename: Zhi-Ying
authors.initials: ZY
authors.lastname: Wu