期刊
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
卷 11, 期 3, 页码 254-261出版社
SPRINGER
DOI: 10.1007/s11910-011-0181-3
关键词
Neurodegeneration with brain iron accumulation; NBIA; Pantothenate kinase-associated neurodegeneration; PKAN; Neuroaxonal dystrophy; INAD; Dystonia-parkinsonism; PLAN; Fatty acid hydroxylase-associated neurodegeneration; Woodhouse-Sakati syndrome; Kufor-Rakeb syndrome; Aceruloplasminemia; Neuroferritinopathy; PANK2; PLA2G6; FA2H; ATP13A2, C2orf37; CP, FTL
资金
- NEI NIH HHS [R01 EY012353] Funding Source: Medline
- NICHD NIH HHS [R01 HD050832] Funding Source: Medline
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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