| Autor: |
Chen X; Department of Pediatrics, West China Second University Hospital; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan 610041, China. 1109329811@qq.com., Yu T, Luo R |
| Jazyk: |
čínština |
| Zdroj: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2019 Feb 10; Vol. 36 (2), pp. 175-178. |
| DOI: |
10.3760/cma.j.issn.1003-9406.2019.02.021 |
| Abstrakt: |
Pantothenate kinase-associated neurodegenerative diseases is a type of neurodegeneration with brain iron accumulation characterized by excessive iron deposition in specific parts of the brain. The phenotypic spectrum includes classic and atypical PKAN. The clinical presentation may range from speech disorder to severe dystonia, dysphagia, mental retardation and retinal degeneration. It is an autosomal recessive disorder characterized by a variant in the PANK2 gene, pathogenesis involves mitochondrial dysfunction, oxidative stress damage, lipid metabolism disorders and autophagy disorders. This review summarizes the clinical presentation, molecular pathogenesis, imaging modalities and genetics. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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