PLA2G6 Mutations and Other Rare Causes of Neurodegeneration with Brain Iron Accumulation

Title:PLA2G6 Mutations and Other Rare Causes of Neurodegeneration with Brain Iron Accumulation

Volume: 13 Issue: 9

Author(s): Alisdair McNeill

Affiliation:

Keywords: c19orf2, FA2H, PLA2G6, NBIA, neurodegenerative disorders, magnetic resonance imaging, sclerosis, HIV infection, INAD, tetraparesis

Abstract: 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.

Cite this article as:

McNeill Alisdair, PLA2G6 Mutations and Other Rare Causes of Neurodegeneration with Brain Iron Accumulation, Current Drug Targets 2012; 13 (9) . https://dx.doi.org/10.2174/138945012802002401