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Current Drug Targets


ISSN (Print): 1389-4501
ISSN (Online): 1873-5592

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

Author(s): Alisdair McNeill

Volume 13, Issue 9, 2012

Page: [1204 - 1206] Pages: 3

DOI: 10.2174/138945012802002401

Price: $65


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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