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Neurol Genet. 2016 Apr 27;2(3):e74. doi: 10.1212/NXG.0000000000000074. eCollection 2016 Jun.

FTL mutation in a Chinese pedigree with neuroferritinopathy.

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1
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.

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.

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