Genetics of Neurodegeneration with Brain Iron Accumulation |
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Authors: | Allison Gregory Susan J Hayflick |
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Institution: | Department of Molecular & Medical Genetics, Oregon Health & Science University, 3181 S.W. Sam Jackson Park Road, Mailcode L103, Portland, OR 97239-3098, USA. gregorya@ohsu.edu |
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Abstract: | The condition originally called Hallervorden-Spatz syndrome is a collection of related disorders involving abnormal iron accumulation
in the basal ganglia, usually manifesting with a movement disorder. To date, mutations in the following genes have been associated
with neurodegeneration with brain iron accumulation (NBIA) phenotypes: PANK2, PLA2G6, FA2H, ATP13A2, C2orf37, CP, and FTL. This collection, now classified under the umbrella term NBIA, continues to evolve as new genes and associated phenotypes
are recognized. As this body of information continues to grow, better approaches to diagnosis and treatment have become available.
Continued investigations of the underlying pathogenesis of disease, with a focus on lipid, iron, and energy metabolism, will
lead to the identification of new therapeutic targets. |
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Keywords: | |
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