Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation
نویسندگان
چکیده
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, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK 6 Department of Neurology, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
منابع مشابه
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 ...
متن کاملFTL mutation in a Chinese pedigree with neuroferritinopathy
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 repo...
متن کاملClinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.
Neuroferritinopathy is a progressive potentially treatable adult-onset movement disorder caused by mutations in the ferritin light chain gene (FTL1). Features overlap with common extrapyramidal disorders: idiopathic torsion dystonia, idiopathic Parkinson's disease and Huntington's disease, but the phenotype and natural history have not been defined. We studied a genetically homogeneous group of...
متن کاملNeuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis. This mutation was also present in his asymptomatic mother and younger brother, who had abnormally low levels of ferritin in the serum. The patient and his mother displayed bilateral involveme...
متن کاملA novel neuroferritinopathy mouse model (FTL 498InsTC) shows progressive brain iron dysregulation, morphological signs of early neurodegeneration and motor coordination deficits
Neuroferritinopathy is a rare genetic disease with a dominant autosomal transmission caused by mutations of the ferritin light chain gene (FTL). It belongs to Neurodegeneration with Brain Iron Accumulation, a group of disorders where iron dysregulation is tightly associated with neurodegeneration. We studied the 498-499InsTC mutation which causes the substitution of the last 9 amino acids and a...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Brain
دوره 132 شماره
صفحات -
تاریخ انتشار 2009