Seminars in Pediatric Neurology
Volume 13, Issue 3 , Pages 176-181 , September 2006

Neuroferritinopathy

  • John Burn, MD, FRCP, FRCPCH, FRCOG, FMed Sci

      Affiliations

    • Corresponding Author InformationAddress reprint requests to John Burn, MD, FRCP, FRCPCH, FRCOG, FMed Sci, Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle on Tyne NE1 3BZ, UK.
    • ,
  • Patrick F. Chinnery, MD, PhD, FRCP

References 

  1. Burn J, Gibson D, Curtis A, et al. Autosomal dominant chorea with intellectual preservation and cystic degeneration of the basal ganglia: A differential diagnosis for Huntington’s disease. J Med Genet. 1990;27:647
  2. Curtis AR, Fey C, Morris CM, et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet. 2001;28:350–354
  3. Chinnery PF, Crompton DE, Birchall D, et al: Clinical features and natural history of neuroferritinopathy. Brain 2006 (in press)
  4. Caparros-Lefebvre D, Destee A, Petit H. Late onset familial dystonia: Could mitochondrial deficits induce a diffuse lesioning process of the whole basal ganglia system?. J Neurol Neurosurg Psychiatry. 1997;63:196–203
  5. Chinnery PF, Curtis AR, Fey C, et al. Neuroferritinopathy in a French family with late onset dominant dystonia. J Med Genet. 2003;40:e69
  6. Vidal R, Ghetti B, Takao M, et al. Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. J Neuropathol Exp Neurol. 2004;63:363–380
  7. Mancuso M, Davidzon G, Kurlan RM, et al. Hereditary ferritinopathy: A novel mutation, its cellular pathology, and pathogenetic insights. J Neuropathol Exp Neurol. 2005;64:280–294
  8. Maciel P, Cruz VT, Constante M, et al. Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology. 2005;65:603–605
  9. McFarland R, Taylor RW, Turnbull DM. The neurology of mitochondrial DNA disease. Lancet Neurol. 2002;1:343–351
  10. Jellinger KA. The role of iron in neurodegeneration: Prospects for pharmacotherapy of Parkinson’s disease. Drugs Aging. 1999;14:115–140
  11. Muller T, Buttner T, Gholipour A-F, et al. Coenzyme Q10 supplementation provides mild symptomatic benefit in patients with Parkinson’s disease. Neurosci Lett. 2003;341:201–204

 Supported in part by the Newcastle Hospitals Special Trustees. PFC is a Wellcome Trust Senior Fellow in Clinical Science and receives additional grant support from The Wellcome Trust, Ataxia UK, The Alzheimer’s Research Trust, the Association Francaise Contre les Myopathies, the United Mitochondrial Diseases Foundation, and the EU FP6 program EUmitocombat and MITOCIRCLE.

PII: S1071-9091(06)00105-7

doi: 10.1016/j.spen.2006.08.006

Seminars in Pediatric Neurology
Volume 13, Issue 3 , Pages 176-181 , September 2006

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