메뉴 건너뛰기




Volumn 18, Issue 8, 2012, Pages 909-915

Neuroferritinopathy

Author keywords

Basal ganglia; Dystonia; Iron deposition; Neuroferritinopathy; Parkinsonism

Indexed keywords

AMANTADINE; AMITRIPTYLINE; APOMORPHINE; BACLOFEN; BOTULINUM TOXIN; CARBAMAZEPINE; CHOLINERGIC RECEPTOR BLOCKING AGENT; CLONAZEPAM; DANTROLENE; DEANOL; DEFERIPRONE; DEFEROXAMINE; DIAZEPAM; DOPAMINE RECEPTOR BLOCKING AGENT; FERRITIN; GABAPENTIN; HALOPERIDOL; IRON; LEVODOPA; LORAZEPAM; MIRTAZAPINE; OLANZAPINE; PAROXETINE; RISPERIDONE; SULPIRIDE; TETRABENAZINE; TIAPRIDE; TRIHEXYPHENIDYL; UNINDEXED DRUG; VALPROIC ACID;

EID: 84865598758     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2012.06.021     Document Type: Review
Times cited : (26)

References (35)
  • 1
    • 79954478445 scopus 로고    scopus 로고
    • Neurodegeneration with brain iron accumulation
    • McNeill A., Chinnery P.F. Neurodegeneration with brain iron accumulation. Handb Clin Neurol 2011, 100:161-172.
    • (2011) Handb Clin Neurol , vol.100 , pp. 161-172
    • McNeill, A.1    Chinnery, P.F.2
  • 5
    • 67349100157 scopus 로고    scopus 로고
    • Ferritins: a family of molecules for iron storage, antioxidation and more
    • Arosio P., Ingrassia R., Cavadini P. Ferritins: a family of molecules for iron storage, antioxidation and more. Biochim Biophys Acta 2009 Jul., 1790(7):589-599.
    • (2009) Biochim Biophys Acta , vol.1790 , Issue.7 , pp. 589-599
    • Arosio, P.1    Ingrassia, R.2    Cavadini, P.3
  • 6
    • 0037452863 scopus 로고    scopus 로고
    • Multiple pathways for mineral core formation in mammalian apoferritin. The role of hydrogen peroxide
    • Zhao G., Bou-Abdallah F., Arosio P., Levi S., Janus-Chandler C., Chasteen N.D. Multiple pathways for mineral core formation in mammalian apoferritin. The role of hydrogen peroxide. Biochemistry 2003 Mar. 18, 42(10):3142-3150.
    • (2003) Biochemistry , vol.42 , Issue.10 , pp. 3142-3150
    • Zhao, G.1    Bou-Abdallah, F.2    Arosio, P.3    Levi, S.4    Janus-Chandler, C.5    Chasteen, N.D.6
  • 7
    • 0027198736 scopus 로고
    • Production and characterization of recombinant heteropolymers of human ferritin H and L chains
    • Santambrogio P., Levi S., Cozzi A., Rovida E., Albertini A., Arosio P. Production and characterization of recombinant heteropolymers of human ferritin H and L chains. J Biol Chem 1993 Jun. 15, 268(17):12744-12748.
    • (1993) J Biol Chem , vol.268 , Issue.17 , pp. 12744-12748
    • Santambrogio, P.1    Levi, S.2    Cozzi, A.3    Rovida, E.4    Albertini, A.5    Arosio, P.6
  • 8
    • 0030608152 scopus 로고    scopus 로고
    • The ferritins: molecular properties, iron storage function and cellular regulation
    • Harrison P.M., Arosio P. The ferritins: molecular properties, iron storage function and cellular regulation. Biochim Biophys Acta 1996 Jul. 31, 1275(3):161-203.
    • (1996) Biochim Biophys Acta , vol.1275 , Issue.3 , pp. 161-203
    • Harrison, P.M.1    Arosio, P.2
  • 9
    • 8344260568 scopus 로고    scopus 로고
    • Ferritin heavy chain upregulation by NF-kappaB inhibits TNFalpha-induced apoptosis by suppressing reactive oxygen species
    • Pham C.G., Bubici C., Zazzeroni F., Papa S., Jones J., Alvarez K., et al. Ferritin heavy chain upregulation by NF-kappaB inhibits TNFalpha-induced apoptosis by suppressing reactive oxygen species. Cell 2004 Nov. 12, 119(4):529-542.
    • (2004) Cell , vol.119 , Issue.4 , pp. 529-542
    • Pham, C.G.1    Bubici, C.2    Zazzeroni, F.3    Papa, S.4    Jones, J.5    Alvarez, K.6
  • 10
    • 20944435524 scopus 로고    scopus 로고
    • Ferritin contributes to melanoma progression by modulating cell growth and sensitivity to oxidative stress
    • Baldi A., Lombardi D., Russo P., Palescandolo E., De Luca A., Santini D., et al. Ferritin contributes to melanoma progression by modulating cell growth and sensitivity to oxidative stress. Clin Cancer Res 2005 May 1, 11(9):3175-3183.
    • (2005) Clin Cancer Res , vol.11 , Issue.9 , pp. 3175-3183
    • Baldi, A.1    Lombardi, D.2    Russo, P.3    Palescandolo, E.4    De Luca, A.5    Santini, D.6
  • 11
    • 84861391313 scopus 로고    scopus 로고
    • The role of iron in neurodegeneration-Mössbauer spectroscopy, electron microscopy, enzyme-linked immunosorbent assay and neuroimaging studies
    • Galazka-Friedman J., Bauminger E.R., Szlachta K., Friedman A. The role of iron in neurodegeneration-Mössbauer spectroscopy, electron microscopy, enzyme-linked immunosorbent assay and neuroimaging studies. J Phys Condens Matter 2012 Jun. 20, 24(24):244106.
    • (2012) J Phys Condens Matter , vol.24 , Issue.24 , pp. 244106
    • Galazka-Friedman, J.1    Bauminger, E.R.2    Szlachta, K.3    Friedman, A.4
  • 12
    • 2942627763 scopus 로고    scopus 로고
    • Mitochondrial ferritin
    • Levi S., Arosio P. Mitochondrial ferritin. Int J Biochem Cell Biol 2004 Oct., 36(10):1887-1889.
    • (2004) Int J Biochem Cell Biol , vol.36 , Issue.10 , pp. 1887-1889
    • Levi, S.1    Arosio, P.2
  • 13
    • 0034941118 scopus 로고    scopus 로고
    • Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
    • Curtis A.R., Fey C., Morris C.M., Bindoff L.A., Ince P.G., Chinnery P.F., et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 2001 Aug., 28(4):350-354.
    • (2001) Nat Genet , vol.28 , Issue.4 , pp. 350-354
    • Curtis, A.R.1    Fey, C.2    Morris, C.M.3    Bindoff, L.A.4    Ince, P.G.5    Chinnery, P.F.6
  • 14
    • 23844553465 scopus 로고    scopus 로고
    • Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
    • Maciel P., Cruz V.T., Constante M., Iniesta I., Costa M.C., Gallati S., et al. Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology 2005 Aug. 23, 65(4):603-605.
    • (2005) Neurology , vol.65 , Issue.4 , pp. 603-605
    • Maciel, P.1    Cruz, V.T.2    Constante, M.3    Iniesta, I.4    Costa, M.C.5    Gallati, S.6
  • 15
    • 14544294357 scopus 로고    scopus 로고
    • Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation
    • Levi S., Cozzi A., Arosio P. Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation. Best Pract Res Clin Haematol 2005 Jun. 1, 18(2):265-276.
    • (2005) Best Pract Res Clin Haematol , vol.18 , Issue.2 , pp. 265-276
    • Levi, S.1    Cozzi, A.2    Arosio, P.3
  • 16
    • 12144288949 scopus 로고    scopus 로고
    • Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene
    • Vidal R., Ghetti B., Takao M., Brefel-Courbon C., Uro-Coste E., Glazier B.S., 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 Apr. 1, 63(4):363-380.
    • (2004) J Neuropathol Exp Neurol , vol.63 , Issue.4 , pp. 363-380
    • Vidal, R.1    Ghetti, B.2    Takao, M.3    Brefel-Courbon, C.4    Uro-Coste, E.5    Glazier, B.S.6
  • 17
    • 16844363930 scopus 로고    scopus 로고
    • Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights
    • Mancuso M., Davidzon G., Kurlan R.M., Tawil R., Bonilla E., Di Mauro S., et al. Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. J Neuropathol Exp Neurol 2005 Apr. 1, 64(4):280-294.
    • (2005) J Neuropathol Exp Neurol , vol.64 , Issue.4 , pp. 280-294
    • Mancuso, M.1    Davidzon, G.2    Kurlan, R.M.3    Tawil, R.4    Bonilla, E.5    Di Mauro, S.6
  • 18
    • 38149140232 scopus 로고    scopus 로고
    • Expression of a mutant form of the ferritin light chain gene induces neurodegeneration and iron overload in transgenic mice
    • Vidal R., Miravalle L., Gao X., Barbeito A.G., Baraibar M.A., Hekmatyar S.K., et al. Expression of a mutant form of the ferritin light chain gene induces neurodegeneration and iron overload in transgenic mice. J Neurosci 2008 Jan. 2, 28(1):60-67.
    • (2008) J Neurosci , vol.28 , Issue.1 , pp. 60-67
    • Vidal, R.1    Miravalle, L.2    Gao, X.3    Barbeito, A.G.4    Baraibar, M.A.5    Hekmatyar, S.K.6
  • 19
    • 70449519036 scopus 로고    scopus 로고
    • Oxidative stress and cell death in cells expressing L-ferritin variants causing neuroferritinopathy
    • Cozzi A., Rovelli E., Frizzale G., Campanella A., Amendola M., Arosio P., et al. Oxidative stress and cell death in cells expressing L-ferritin variants causing neuroferritinopathy. Neurobiol Dis 2010 Jan., 37(1):77-85.
    • (2010) Neurobiol Dis , vol.37 , Issue.1 , pp. 77-85
    • Cozzi, A.1    Rovelli, E.2    Frizzale, G.3    Campanella, A.4    Amendola, M.5    Arosio, P.6
  • 20
    • 65649154118 scopus 로고    scopus 로고
    • Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene
    • Barbeito A.G., Garringer H.J., Baraibar M.A., Gao X., Arredondo M., Núñez M.T., et al. Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene. J Neurochem 2009 May, 109(4):1067-1078.
    • (2009) J Neurochem , vol.109 , Issue.4 , pp. 1067-1078
    • Barbeito, A.G.1    Garringer, H.J.2    Baraibar, M.A.3    Gao, X.4    Arredondo, M.5    Núñez, M.T.6
  • 21
    • 69949153449 scopus 로고    scopus 로고
    • Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC)
    • Ory-Magne F., Brefel-Courbon C., Payoux P., Debruxelles S., Sibon I., Goizet C., et al. Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC). Mov Disord 2009 Aug. 15, 24(11):1676-1683.
    • (2009) Mov Disord , vol.24 , Issue.11 , pp. 1676-1683
    • Ory-Magne, F.1    Brefel-Courbon, C.2    Payoux, P.3    Debruxelles, S.4    Sibon, I.5    Goizet, C.6
  • 22
    • 84865601614 scopus 로고    scopus 로고
    • MRI findings in neuroferritinopathy
    • Ohta E., Takiyama Y. MRI findings in neuroferritinopathy. Neurol Res Int 2012, 2012:197438.
    • (2012) Neurol Res Int , vol.2012 , pp. 197438
    • Ohta, E.1    Takiyama, Y.2
  • 23
    • 57649133953 scopus 로고    scopus 로고
    • Iron-mediated aggregation and a localized structural change characterize ferritin from a mutant light chain polypeptide that causes neurodegeneration
    • Baraibar M.A., Barbeito A.G., Muhoberac B.B., Vidal R. Iron-mediated aggregation and a localized structural change characterize ferritin from a mutant light chain polypeptide that causes neurodegeneration. J Biol Chem 2008 Nov. 14, 283(46):31679-31689.
    • (2008) J Biol Chem , vol.283 , Issue.46 , pp. 31679-31689
    • Baraibar, M.A.1    Barbeito, A.G.2    Muhoberac, B.B.3    Vidal, R.4
  • 24
    • 77953713610 scopus 로고    scopus 로고
    • Accumulation of oxidative DNA damage in brain mitochondria in mouse model of hereditary ferritinopathy
    • Deng X., Vidal R., Englander E.W. Accumulation of oxidative DNA damage in brain mitochondria in mouse model of hereditary ferritinopathy. Neurosci Lett 2010 Jul. 19, 479(1):44-48.
    • (2010) Neurosci Lett , vol.479 , Issue.1 , pp. 44-48
    • Deng, X.1    Vidal, R.2    Englander, E.W.3
  • 25
    • 33845899114 scopus 로고    scopus 로고
    • Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation
    • Chinnery P.F., Crompton D.E., Birchall D., Jackson M.J., Coulthard A., Lombès A., et al. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain 2007 Jan., 130(Pt 1):110-119.
    • (2007) Brain , vol.130 , Issue.PART 1 , pp. 110-119
    • Chinnery, P.F.1    Crompton, D.E.2    Birchall, D.3    Jackson, M.J.4    Coulthard, A.5    Lombès, A.6
  • 26
    • 77958538143 scopus 로고    scopus 로고
    • Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States
    • Ondo W.G., Adam O.R., Jankovic J., Chinnery P.F. Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States. Mov Disord 2010 Oct. 30, 25(14):2470-2472.
    • (2010) Mov Disord , vol.25 , Issue.14 , pp. 2470-2472
    • Ondo, W.G.1    Adam, O.R.2    Jankovic, J.3    Chinnery, P.F.4
  • 28
    • 14944341764 scopus 로고    scopus 로고
    • Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene
    • Mir P., Edwards M.J., Curtis A.R.J., Bhatia K.P., Quinn N.P. Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene. Mov Disord 2005 Feb., 20(2):243-245.
    • (2005) Mov Disord , vol.20 , Issue.2 , pp. 243-245
    • Mir, P.1    Edwards, M.J.2    Curtis, A.R.J.3    Bhatia, K.P.4    Quinn, N.P.5
  • 30
    • 42049109697 scopus 로고    scopus 로고
    • Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene
    • Ohta E., Nagasaka T., Shindo K., Toma S., Nagasaka K., Ohta K., et al. Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene. Neurology 2008 Apr. 15, 70(16 Pt 2):1493-1494.
    • (2008) Neurology , vol.70 , Issue.16 PART 2 , pp. 1493-1494
    • Ohta, E.1    Nagasaka, T.2    Shindo, K.3    Toma, S.4    Nagasaka, K.5    Ohta, K.6
  • 31
    • 67651103065 scopus 로고    scopus 로고
    • A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations
    • Kubota A., Hida A., Ichikawa Y., Momose Y., Goto J., Igeta Y., et al. 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 2009 Feb. 15, 24(3):441-445.
    • (2009) Mov Disord , vol.24 , Issue.3 , pp. 441-445
    • Kubota, A.1    Hida, A.2    Ichikawa, Y.3    Momose, Y.4    Goto, J.5    Igeta, Y.6
  • 32
    • 67649414590 scopus 로고    scopus 로고
    • Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation
    • e109
    • Devos D., Tchofo P.J., Vuillaume I., Destée A., Batey S., Burn J., et al. Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. Brain 2009 Jun., 132(Pt 6). e109.
    • (2009) Brain , vol.132 , Issue.PART 6
    • Devos, D.1    Tchofo, P.J.2    Vuillaume, I.3    Destée, A.4    Batey, S.5    Burn, J.6
  • 33
    • 0141502263 scopus 로고    scopus 로고
    • Hereditary neuroferritinopathy presenting with palatal tremor, orofacial dyskinesias, bulbar symptoms, and unsteadiness of gait
    • Wills A. Hereditary neuroferritinopathy presenting with palatal tremor, orofacial dyskinesias, bulbar symptoms, and unsteadiness of gait. Move Disord 2003.
    • (2003) Move Disord
    • Wills, A.1
  • 34
    • 60149094689 scopus 로고    scopus 로고
    • Susceptibility-weighted imaging: technical aspects and clinical applications, part 2
    • Mittal S., Wu Z., Neelavalli J., Haacke E.M. Susceptibility-weighted imaging: technical aspects and clinical applications, part 2. Am J of Neuroradiology 2009 Feb., 30(2):232-252.
    • (2009) Am J of Neuroradiology , vol.30 , Issue.2 , pp. 232-252
    • Mittal, S.1    Wu, Z.2    Neelavalli, J.3    Haacke, E.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.