MRI Findings in Neuroferritinopathy

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 ab...

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Main Authors: Emiko Ohta, Yoshihisa Takiyama
Format: Article
Language:English
Published: Wiley 2012-01-01
Series:Neurology Research International
Online Access:http://dx.doi.org/10.1155/2012/197438
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author Emiko Ohta
Yoshihisa Takiyama
author_facet Emiko Ohta
Yoshihisa Takiyama
author_sort Emiko Ohta
collection DOAJ
description 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.
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spelling doaj-art-feabbf3fc73748e98913ca9194be91342025-02-03T01:23:22ZengWileyNeurology Research International2090-18522090-18602012-01-01201210.1155/2012/197438197438MRI Findings in NeuroferritinopathyEmiko Ohta0Yoshihisa Takiyama1Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, JapanDepartment of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, JapanNeuroferritinopathy 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.http://dx.doi.org/10.1155/2012/197438
spellingShingle Emiko Ohta
Yoshihisa Takiyama
MRI Findings in Neuroferritinopathy
Neurology Research International
title MRI Findings in Neuroferritinopathy
title_full MRI Findings in Neuroferritinopathy
title_fullStr MRI Findings in Neuroferritinopathy
title_full_unstemmed MRI Findings in Neuroferritinopathy
title_short MRI Findings in Neuroferritinopathy
title_sort mri findings in neuroferritinopathy
url http://dx.doi.org/10.1155/2012/197438
work_keys_str_mv AT emikoohta mrifindingsinneuroferritinopathy
AT yoshihisatakiyama mrifindingsinneuroferritinopathy