Teaching NeuroImages: Neuroferritinopathy

Department of Neurology, Princess Alexandra Hospital, 199 Ipswich Road, Woolloongabba QLD 4102, Australia.
Neurology (Impact Factor: 8.29). 11/2011; 77(18):e107. DOI: 10.1212/WNL.0b013e318236492c
Source: PubMed

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    ABSTRACT: Neuroferritinopathy is an autosomal-dominant neurodegenerative disorder caused by mutations in the ferritin light chain gene ( FTL ). The disease is clinically present during adulthood with movement disorders mainly with chorea, dystonia, and parkinsonism and progresses slowly over decades. Cognitive symptoms are often noted after motor signs. On brain magnetic resonance imaging (MRI), the fi ndings are iron deposits in the basal ganglia and cavitation. Neuronal loss in the cerebral cortex, cerebellum, and basal ganglia has been demonstrated in neuropathological studies as well as ferritin inclusion bodies, shown within neurons and glia. As neuroferritinopathy is considered as one of several of neurodegenerative diseases with brain iron accumulation (NBIA), the main differential diagnosis of this disorder is with the other diseases found in this group and with Huntington's disease. There is no specific treatment to modify the progression of the disease.
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    ABSTRACT: Neurodegeneration with brain iron accumulation (NBIA) includes pantothenate kinase-associated neurodegeneration (PKAN, NBIA1), PLA2G6-associated neurodegeneration (PLAN, NBIA2), neuroferritinopathy, aceruloplasminemia, and MIN-associated neurodegeneration (MPAN).(1) Clinically, they can have similar presentation, with a combination of progressive extrapyramidal, cognitive, and bulbar features.(1) Since genetic testing is costly and not easily accessible, MRI clues, such as the eye of the tiger sign for PKAN,(2,3) are useful to guide the confirmatory genetic analyses. Herein, we describe a distinct imaging pattern of cortical iron deposition on susceptibility-weighted MRI (SWI) in genetically proven cases of neuroferritinopathy, which is not seen in genetically proven cases of PKAN or PLAN, the 2 most common forms of NBIA.
    Full-text · Article · Apr 2015 · Neurology