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Neurodegeneration with Brain Iron Accumulation

  • Roongroj Bhidayasiri
  • Daniel Tarsy
Chapter
Part of the Current Clinical Neurology book series (CCNEU)

Abstract

Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of progressive extrapyramidal disorders which are characterized by the accumulation of brain iron. The term NBIA is now widely used in the medical literature and is sufficiently broad to encompass the spectrum of disorders previously called Hallervorden-Spatz disease as well as other disorders causing elevated levels of brain iron such as neuroaxonal dystrophy, neuroferritinopathy, and aceruloplasminemia.

The major form of NBIA is pantothenate kinase–associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz disease, which is caused by mutations in the PANK2 gene. PKAN accounts for approximately 50% of cases of NBIA. Aceruloplasminemia, caused by mutations in the CP gene, and neuroferritinopathy, caused by mutations in the FTL gene, make up a small proportion of other cases of NBIA.

Keywords

Attention Deficit Hyperactivity Disorder Cervical Dystonia Retinal Degeneration Brain Iron Neurodegeneration With Brain Iron Accumulation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

NBIA.mp4 (MP4 11,127KB)

The patient has generalized dystonia which predominantly affects the trunk and cervical regions. Episodes of dystonic spasm are evident when he sits upright and walks. Gait is characterized by short stride length and shuffling together with elbow flexion and shoulder abduction.

References

  1. 1.
    Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet. 2009;46:73–80.PubMedCentralPubMedCrossRefGoogle Scholar
  2. 2.
    Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Eng J Med. 2003;348:33–40.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • Roongroj Bhidayasiri
    • 1
    • 2
  • Daniel Tarsy
    • 3
  1. 1.Chulalongkorn Center of Excellence on Parkinson’s Disease and Related DisordersChulalongkorn University HospitalBangkokThailand
  2. 2.Department of NeurologyDavid Geffen School of Medicine at UCLALos AngelesUSA
  3. 3.Department of NeurologyHarvard Medical School Beth Israel Deaconess Medical CenterBostonUSA

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