MRI Findings in Neuroferritinopathy

Abstract

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.

The role of iron in brain ageing and neurodegenerative disorders

“…169 MRI studies of neuroferritinopathy have suggested that the greatest accumulation of iron is in the basal ganglia and dentate nuclei, but thalamus and red nuclei can also be affected. 185,189,190 In cases of severe neuroferritinopathy, the putamen and globus pallidus might have focal spots of low iron concentrations (eg, judged from increased T 2 *); this is attributed to increased tissue water content and cystic accumulation from inflammatory processes. By contrast, a more general involvement of deep grey matter nuclei (and grey matter in general) with respect to iron accumulation is seen in aceruloplasminaemia, but without evidence of cystic processes.…”

Neurodegenerations with Brain Iron Accumulation

“…Cavitations are a typical finding and there may be generalised cortical and in some cases cerebellar atrophy. [22] Pencil lining, reflecting M A N U S C R I P T A C C E P T E D ACCEPTED MANUSCRIPT 8 pathologic iron deposition in the periphery of the cortex and other gray matter structures have been reported. [23] Iron is also more widespread in aceruloplasminemia affecting the caudate, putamen, pallidus, thalamus, as well as red nucleus and dentate in addition to cerebellar atrophy.…”

A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation

“…In the early clinical stage, hypointense lesions in the basal ganglia are observed on T2*-weighted images and SWI, particularly in the globus pallidus and putamen (Lehn, 2012). With disease progression, the T2* signal loss extends to the dentate nucleus, red nucleus, substantia nigra, thalamus, caudate nucleus, and cerebral cortex (Ohta, 2012). In later stages, hyperintense lesions in the basal ganglia reflecting neuronal loss and gliosis due to iron deposition and ferritin accumulation can be seen on T2-weighted images.…”