Seminars in Pediatric Neurology
Volume 13, Issue 3 , Pages 182-185 , September 2006

Neurodegeneration With Brain Iron Accumulation: From Genes to Pathogenesis

  • Susan J. Hayflick, MD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Susan J. Hayflick, MD, Department of Molecular and Medical Genetics, Oregon Health & Science University, L103, 3181 S.W. Sam Jackson Park Road Portland, OR 97239-3098.

References 

  1. Zhou B, Westaway SK, Levinson B, et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet. 2001;28:345–349
  2. Morgan B, et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet. 2006;38(7):752–754
  3. Hayflick SJ, Hartman M, Coryell J, et al. Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. Am J Neuroradiol. 2006;27:1230–1233
  4. Sethi KD, Adams RJ, Loring DW, et al. Hallervorden-Spatz syndrome: Clinical and magnetic resonance imaging correlations. Ann Neurol. 1988;24:692–694
  5. Hayflick SJ, et al. Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome. Pediatr Neurol. 2001;25:166–169
  6. Gregory A, Hayflick SJ. Neurodegeneration with brain iron accumulation. Folia Neuropathol. 2005;43:286–296
  7. Hayflick SJ, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003;348:33–40
  8. Thomas M, Hayflick SJ, Jankovic J. Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Mov Disord. 2004;19:36–42
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  10. Balsinde J, Balboa MA. Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cells. Cell Signal. 2005;17:1052–1062
  11. Bao S, et al. Male mice that do not express group VIA phospholipase A2 produce spermatozoa with impaired motility and have greatly reduced fertility. J Biol Chem. 2004;279:38194–38200
  12. Kuo YM, et al. Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. Hum Mol Genet. 2005;14:49–57
  13. Afshar K, Gonczy P, DiNardo S, et al. fumble encodes a pantothenate kinase homolog required for proper mitosis and meiosis in Drosophila melanogaster. Genetics. 2001;157:1267–1276

 Supported by grants from the National Eye Institute, the National Institute of Child Health and Human Development, the NBIA Disorders Association, L’Association Internationale De Dystrophie Neuro Axonale Infantile, the National Organization for Rare Disorders, and the R.J. Murdock Foundation.

PII: S1071-9091(06)00106-9

doi: 10.1016/j.spen.2006.08.007

Seminars in Pediatric Neurology
Volume 13, Issue 3 , Pages 182-185 , September 2006

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