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.

Departments of Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health & Science University, Portland, OR.

Neurodegeneration with brain iron accumulation comprises a clinically and genetically heterogeneous collection of disorders that share key features. These include progressive neurological disease accompanied by high basal ganglia iron and axonal dystrophy. To date, 2 genetic forms have been associated with mutations in PANK2 and PLA2G6, both of which encode proteins that are critical to membrane integrity. The intersection of pathways perturbed by defects in these 2 genes now enables us to test hypotheses of a common pathogenesis and ask why iron accumulates. The mechanisms implicated may contribute to our understanding of more common neurodegenerative disorders with iron dyshomeostasis, including Parkinson and Alzheimer disease.

Keywords: brain, iron, neurodegeneration, pantothenate, kinase 2, PKAN, NBIA, infantile neuroaxonal dystrophy, phospholipase A2

To access this article, please choose from the options below

Login to an existing account or Register a new account.

  • Purchase this article for 10.00 USD (You must login/register to purchase this article)

    Online access for 24 hours. The PDF version can be downloaded as your permanent record.

  • Subscribe to this title

    Get unlimited online access to this article and all other articles in this title 24/7 for one year.

  • Claim access now

    For current subscribers with Society Membership or Account Number.

  • Visit SciVerse ScienceDirect to see if you have access via your institution.
 

 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

Article Tools

* Image Usage & Resolution