Article
Neurodegeneration with brain iron accumulation: from genes to pathogenesis.
Seminars in pediatric neurology - 1 Sept 2006
Hayflick Susan J
Abstract excerpt
Neurodegeneration with brain iron accumulation comprises a clinically and genetically heterogeneous collection of disorders that share key features. These include progressive neurological disease accompanied by high basal ganglia iron and axonal dystrophy. To date, 2 genetic forms have been associated with mutations in PANK2 and PLA2G6, both of which encode proteins that are critical to membrane integrity. The...
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