전형적, 비전형적 임상 양상을 보인 Neurodegeneration With Brain Iron Accumulation 환자

키워드

참고문헌 (10)

1. Hayflick SJ, "Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome", N Engl J Med, 348, pp.33~40 (2003)
2. Thomas M, "Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration", Mov Disord, 19, pp.36~42 (2004)
3. Liang TW, "Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation", Mov Disord, 21, pp.718~722 (2006)
4. Hartig MB, "Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation", Ann Neurol, 59, pp.248~256 (2006)
5. Zhou B, "A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome", Nat Genet, 28, pp.345~349 (2001)
6. Higgins JJ, "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome)", Neurology, 42, pp.194~198 (1992)
7. Orrell RW, "Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome)", Neurology, 45, pp.487~492 (1995)
8. Ching KH, "HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration", Neurology, 58, pp.1673~1674 (2002)
9. Lyoo CH, "Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration", Mov Disord, 23, pp.283~284 (2008)
10. Swaiman KF, "Hallervorden-Spatz syndrome", Pediatr Neurol, 25, pp.102~108 (2001)

관련 논문AI추천