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Neurogenetics

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01.02.2012 | Short Communication

Neuroferritinopathy: a new inborn error of iron metabolism

verfasst von: Michael J. Keogh, Patricia Jonas, Alan Coulthard, Patrick F. Chinnery, John Burn

Erschienen in: Neurogenetics | Ausgabe 1/2012

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Abstract

Neuroferritinopathy is an autosomal dominant progressive movement disorder which occurs due to mutations in the ferritin light chain gene (FTL1). It presents in mid-adult life and is the only autosomal dominant disease in a group of conditions termed neurodegeneration with brain iron accumulation (NBIA). We performed brain MRI scans on 12 asymptomatic descendants of known mutation carriers. All three harbouring the pathogenic c.460InsA mutation showed iron deposition; these findings show pathological iron accumulation begins in early childhood which is of major importance in understanding and developing treatment for NBIA.

Curtis AR et al (2001) Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 28(4):350–354PubMedCrossRef

Vidal R et al (2004) 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 63(4):363–380PubMed

Maciel P et al (2005) Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology 65(4):603–605PubMedCrossRef

Mancuso M et al (2005) Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. J Neuropathol Exp Neurol 64(4):280–294PubMed

Ohta E et al (2008) Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene. Neurology 70(16 Pt 2):1493–1494PubMedCrossRef

Devos D et al (2009) Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. Brain 132(Pt 6):e109PubMedCrossRef

Kubota A et al (2009) A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations. Mov Disord 24(3):441–445PubMedCrossRef

Barbeito AG et al (2009) Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene. J Neurochem 109(4):1067–1078PubMedCrossRef

Hayflick SJ et al (2003) Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 348(1):33–40PubMedCrossRef

10.

Gregory A, Hayflick SJ (2011) Genetics of neurodegeneration with brain iron accumulation. Curr Neurol Neurosci Rep 11:254–261PubMedCrossRef

11.

Gregory A, Polster BJ, Hayflick SJ (2009) Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 46(2):73–80PubMedCrossRef

12.

Chinnery PF et al (2007) Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain 130(Pt 1):110–119PubMed

13.

McNeill A et al (2008) T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 70(18):1614–1619PubMedCrossRef

14.

Zhou B et al (2001) A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 28(4):345–349PubMedCrossRef

15.

Schneider SA, Hardy J, Bhatia KP (2009) Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential? J Neurol Neurosurg Psychiatry 80(6):589–590PubMedCrossRef

16.

Paisan-Ruiz C et al (2009) Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 65(1):19–23PubMedCrossRef

17.

Santoro L et al (2011) Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. Neurogenetics 12(1):33–39PubMedCrossRef

18.

Hallgren B, Sourander P (1958) The effect of age on the non-haemin iron in the human brain. J Neurochem 3(1):41–51PubMedCrossRef

19.

Gelman N et al (1999) MR imaging of human brain at 3.0 T: preliminary report on transverse relaxation rates and relation to estimated iron content. Radiology 210(3):759–767PubMed

20.

Kwiatkowski A et al (2011) Long-term improvement under deferiprone in a case of neurodegeneration with brain iron accumulation. Parkinsonism Relat Disord (in press)

21.

Fogel BL, Perlman S (2007) Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 6(3):245–257PubMedCrossRef

22.

Di Prospero NA et al (2007) Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol 6(10):878–886PubMedCrossRef

23.

Tonon C, Lodi R (2008) Idebenone in Friedreich's ataxia. Expert Opin Pharmacother 9(13):2327–2337PubMedCrossRef

Titel: Neuroferritinopathy: a new inborn error of iron metabolism
verfasst von: Michael J. Keogh
Patricia Jonas
Alan Coulthard
Patrick F. Chinnery
John Burn
Publikationsdatum: 01.02.2012
Verlag: Springer-Verlag
Erschienen in: Neurogenetics / Ausgabe 1/2012
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-011-0310-9

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Neuroferritinopathy: a new inborn error of iron metabolism

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