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: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2012-01-01
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| Series: | Neurology Research International |
| Online Access: | http://dx.doi.org/10.1155/2012/197438 |
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| Summary: | 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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| ISSN: | 2090-1852 2090-1860 |