%0 Journal Article
%T MRI Findings in Neuroferritinopathy
%A Emiko Ohta
%A Yoshihisa Takiyama
%J Neurology Research International
%D 2012
%I Hindawi Publishing Corporation
%R 10.1155/2012/197438
%X Neuroferritinopathy is a neurodegenerative disease which demonstrates brain iron accumulation caused by the mutations in the ferritin light chain gene. On brain MRI in neuroferritinopathy, iron deposits are observed as low-intensity areas on T2WI and as signal loss on T2*WI. On T2WI, hyperintense abnormalities reflecting tissue edema and gliosis are also seen. Another characteristic finding is the presence of symmetrical cystic changes in the basal ganglia, which are seen in the advanced stages of this disorder. Atrophy is sometimes noted in the cerebellar and cerebral cortices. The variety in the MRI findings is specific to neuroferritinopathy. Based on observations of an excessive iron content in patients with chronic neurologic disorders, such as Parkinson disease and Alzheimer disease, the presence of excess iron is therefore recognized as a major risk factor for neurodegenerative diseases. The future development of multimodal and advanced MRI techniques is thus expected to play an important role in accurately measuring the brain iron content and thereby further elucidating the neurodegenerative process. 1. Introduction Neuroferritinopathy is an autosomal dominant neurodegenerative disorder characterized by the deposition of iron and ferritin in the brain and a decreased level of serum ferritin. The disease is caused by a mutation in the ferritin light chain gene [1]. Seven different pathogenic mutations of the ferritin light chain gene have been identified [1¨C7]. These mutations are predicted to affect the tertiary structure and stability of the ferritin light chain polypeptide and may cause inappropriate iron release from ferritin polymers [8, 9]. It is supposed that the excess iron induces free toxic radical production, which leads to tissue oxidative stress and neuronal cell death [10¨C12]. The clinical features of neuroferritinopathy are characterized by the adult onset of extrapyramidal motor symptoms: dystonia, chorea, choreoathetosis, parkinsonism, and tremor. Some patients may present cerebellar ataxia, cognitive decline, and pyramidal signs [2, 3, 5¨C7]. The phenotypic signs of the disease are variable, even among members of the same family [1, 3]. Generally, there are no nonneurological symptoms [13], different from in other neurodegenerative brain iron accumulation diseases. The clinical features of neuroferritinopathy are not specific, and they overlap with those of common extrapyramidal disorders. It is difficult to diagnose neuroferritinopathy solely based on the clinical findings. Brain MR imaging in the disease is quite characteristic
%U http://www.hindawi.com/journals/nri/2012/197438/