Advances in inherited and clinical research of pantothenate kinase⁃associated neurodegeneration
Pantothenate kinase ⁃ associated neurodegeneration (PKAN) is a major form of neurodegeneration with brain iron accumulation or NBIA (formerly called Hallervorden ⁃ Spatz syndrome). NBIA is caused by altered neuronal mitochondrial lipid metabolism caused by PANK2 mutations disrupting PANK2 protein le...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Tianjin Huanhu Hospital
2012-06-01
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| Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
| Subjects: | |
| Online Access: | http://www.cjcnn.org/index.php/cjcnn/article/view/352 |
| Summary: | Pantothenate kinase ⁃ associated neurodegeneration (PKAN) is a major form of neurodegeneration with brain iron accumulation or NBIA (formerly called Hallervorden ⁃ Spatz syndrome). NBIA is caused by altered neuronal mitochondrial lipid metabolism caused by PANK2 mutations disrupting PANK2 protein levels and catalytic activity and by disrupting maturation and stability of the mitochondrially targeted protein. In this article, we will review advances in inherited and clinical research of PKAN.
DOI：10.3969/j.issn.1672⁃6731.2012.03.024 |
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| ISSN: | 1672-6731 |