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Neuroferritinopathy
Neuroferritinopathy is a progressive neurodegenerative disease inherited in an autosomal dominant manner and characterized by the deposition of iron and ferritin in the brain. Therefore, it is grouped within a family of disorders called neurodegeneration with brain iron accumulation. The disease is caused by mutations in the ferritin light chain (FTL1) gene located on chromosome 19q13. So far, only a handful of different mutations of the FTL1 gene have been described and it is supposed that each of them affects the tertiary structure and the stability of the ferritin light chain polypeptide.
Like in Huntington's disease, neuroferritinopathy presents at an average age of onset in midlife, but early onset in teenage years and late onset (in the sixth decade) have been described. The disease typically presents with chorea or dystonia, whereas other clinical features like parkinsonism, cerebellar signs, dysarthria, frontal lobe syndrome and dementia may be variably present. However, cognitive deficits are not as prominent as in Huntington's disease. Orofacial action-specific dystonia related to speech is a distinguishing clinical feature seen in the majority of patients.
MRI findings in neuroferritinopathy show a broad variety and may include cystic degeneration of the basal ganglia, T2 hypointense lesions reflecting iron deposits and cortical atrophy. (Even the eye-of-the-tiger sign, which was supposed to be pathognomonic for pantothenate kinase-associated neurodegeneration was recently described in a neuroferritinopathy patient).
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