Current Neurology and Neuroscience Reports

, Volume 11, Issue 3, pp 254–261

Genetics of Neurodegeneration with Brain Iron Accumulation



The condition originally called Hallervorden-Spatz syndrome is a collection of related disorders involving abnormal iron accumulation in the basal ganglia, usually manifesting with a movement disorder. To date, mutations in the following genes have been associated with neurodegeneration with brain iron accumulation (NBIA) phenotypes: PANK2, PLA2G6, FA2H, ATP13A2, C2orf37, CP, and FTL. This collection, now classified under the umbrella term NBIA, continues to evolve as new genes and associated phenotypes are recognized. As this body of information continues to grow, better approaches to diagnosis and treatment have become available. Continued investigations of the underlying pathogenesis of disease, with a focus on lipid, iron, and energy metabolism, will lead to the identification of new therapeutic targets.


Neurodegeneration with brain iron accumulation NBIA Pantothenate kinase-associated neurodegeneration PKAN Neuroaxonal dystrophy INAD Dystonia-parkinsonism PLAN Fatty acid hydroxylase-associated neurodegeneration Woodhouse-Sakati syndrome Kufor-Rakeb syndrome Aceruloplasminemia Neuroferritinopathy PANK2 PLA2G6 FA2H ATP13A2, C2orf37 CP, FTL 

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Department of Molecular & Medical GeneticsOregon Health & Science UniversityPortlandUSA
  2. 2.Departments of Molecular & Medical GeneticsPediatrics & NeurologyPortlandUSA

Personalised recommendations