FTL mutation in a Chinese pedigree with neuroferritinopathy
نویسندگان
چکیده
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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A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation
Neuroferritinopathy or hereditary ferritinopathy is an inherited neurodegenerative disease caused by mutations in ferritin light chain (FTL) gene. The clinical features of the disease are highly variable, and include a movement disorder, behavioral abnormalities, and cognitive impairment. Neuropathologically, the disease is characterized by abnormal iron and ferritin depositions in the central ...
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1 Department of Neurology and Movement Disorders, EA2683, France 2 Department of Neuroradiology, IFR 114, IMPRT, Hôpital R. Salengro, CHU, 59037 Lille, France 3 Neurobiology Unit, Centre de Biologie Pathologie, CHRU, 59037 Lille, France 4 Northern Genetics Service, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK 5 Institute of Human Genetics, Newcastle University, Internationa...
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