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Clinical and genetic delineation of neurodegeneration with brain iron accumulation
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  1. A Gregory1,
  2. B J Polster1,
  3. S J Hayflick1,2
  1. 1
    Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA
  2. 2
    Departments of Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon, USA
  1. A Gregory, Molecular and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, Mailcode L103A, Portland, OR 97239, USA; gregorya{at}ohsu.edu

Abstract

Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive neurodegenerative disorders characterised by high brain iron and the presence of axonal spheroids, usually limited to the central nervous system. Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive inborn error of coenzyme A metabolism called pantothenate kinase associated neurodegeneration (PKAN). More recently, it was found that mutations in the PLA2G6 gene cause both infantile neuroaxonal dystrophy (INAD) and, more rarely, an atypical neuroaxonal dystrophy that overlaps clinically with other forms of NBIA. High brain iron is also present in a portion of these cases. Clinical assessment, neuroimaging, and molecular genetic testing all play a role in guiding the diagnostic evaluation and treatment of NBIA.

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Footnotes

  • Funding: This research was supported in part by the NBIA Disorders Association, Association Internationale De Dystrophie Neuro Axonale Infantile, NORD, and NIH grants R01EY12353, R01HD050832, and M01RR000334.

  • Competing interests: None.

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