| Autor: |
K Y, Chan, C W, Lam, L P, Lee, S F, Tong, Y P, Yuen |
| Rok vydání: |
2008 |
| Předmět: |
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| Zdroj: |
Hong Kong medical journal = Xianggang yi xue za zhi. 14(1) |
| ISSN: |
1024-2708 |
| Popis: |
Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome), the most prevalent form of neurodegeneration with brain iron accumulation, is a rare degenerative brain disease characterised by predominantly extrapyramidal dysfunction resulting from mutations in the PANK2 (pantothenate kinase 2) gene. Using DNA mutation analysis, the authors identified a novel missense mutation (P354L) in exon 4 of the PANK2 gene in an adolescent with classic pantothenate kinase-associated neurodegeneration. DNA-based diagnosis of pantothenate kinase-associated neurodegeneration plays a key role in determination, and can make the diagnosis more simply, directly, and economically because it obviates the need for unnecessary biochemical tests. Once pantothenate kinase-associated neurodegeneration-like symptoms are identified, mutation analysis and target screening for the family of the proband can provide efficient and accurate evidence of pantothenate kinase-associated neurodegeneration inheritance. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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