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Clinical and genetic delineation of neurodegeneration with brain iron accumulation.

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.

Pubmed ID: 18981035 RIS Download

Mesh terms: Brain | Humans | Iron | Neuroaxonal Dystrophies | Neurodegenerative Diseases | Phenotype | Phosphotransferases (Alcohol Group Acceptor)

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Associated grants

  • Agency: NCRR NIH HHS, Id: M01 RR 000334
  • Agency: NEI NIH HHS, Id: R01 EY 12353
  • Agency: NEI NIH HHS, Id: R01 EY012353-09
  • Agency: NICHD NIH HHS, Id: R01 HD 050832
  • Agency: NICHD NIH HHS, Id: R01 HD050832-02

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