There is a wide variety of genetic and sporadic causes for neurodegenerative disorders with apparent brain iron
accumulation on magnetic resonance imaging. Rare recessive causes include PLA2G6 mutations (infantile neuroaxonal
dystrophy), and mutations of ATP13A2 (Kufor Rakeb syndrome) and FA2H. A variety of sporadic neurological disorders
can present brain iron accumulation on imaging, including multiple sclerosis and neurological manifestations of HIV infection.
The relevant clinical and imaging features will be discussed.
Keywords: c19orf2, FA2H, PLA2G6, NBIA, neurodegenerative disorders, magnetic resonance imaging, sclerosis, HIV infection, INAD, tetraparesis
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