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Volumn 53, Issue 5, 2011, Pages 394-404

Childhood disorders of neurodegeneration with brain iron accumulation (NBIA)

Author keywords

[No Author keywords available]

Indexed keywords

IRON; PHOSPHOLIPID;

EID: 79954460490     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2011.03955.x     Document Type: Review
Times cited : (88)

References (57)
  • 1
    • 0033013737 scopus 로고    scopus 로고
    • MR imaging of human brain at 3.0T: preliminary report on transverse relaxation rates and relation to estimated iron content
    • Gelman N, Gorell JM, Barker PB, et al. MR imaging of human brain at 3.0T: preliminary report on transverse relaxation rates and relation to estimated iron content. Radiology 1999; 210: 759-67.
    • (1999) Radiology , vol.210 , pp. 759-767
    • Gelman, N.1    Gorell, J.M.2    Barker, P.B.3
  • 2
    • 33750304447 scopus 로고    scopus 로고
    • Potential sources of increased iron in the substantia nigra of parkinsonian patients
    • Gerlach M, Double KL, Youdim MB, Riederer P. Potential sources of increased iron in the substantia nigra of parkinsonian patients. J Neural Transm Suppl 2006; 70: 133-42.
    • (2006) J Neural Transm Suppl , vol.70 , pp. 133-142
    • Gerlach, M.1    Double, K.L.2    Youdim, M.B.3    Riederer, P.4
  • 3
    • 33846043512 scopus 로고    scopus 로고
    • Correlation of proton transverse relaxation rates (R2) with iron concentrations in post-mortem brain tissue from Alzheimer's disease patients
    • House MJ, St Pierre TG, Kowdley KV, et al. Correlation of proton transverse relaxation rates (R2) with iron concentrations in post-mortem brain tissue from Alzheimer's disease patients. Magn Reson Med 2007; 57: 172-80.
    • (2007) Magn Reson Med , vol.57 , pp. 172-180
    • House, M.J.1    St Pierre, T.G.2    Kowdley, K.V.3
  • 4
    • 0034941118 scopus 로고    scopus 로고
    • Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
    • 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: 350-4.
    • (2001) Nat Genet , vol.28 , pp. 350-354
    • Curtis, A.R.1    Fey, C.2    Morris, C.M.3
  • 6
    • 0028895749 scopus 로고
    • A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
    • Yoshida K, Furihata K, Takeda S, et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 1995; 9: 267-72.
    • (1995) Nat Genet , vol.9 , pp. 267-272
    • Yoshida, K.1    Furihata, K.2    Takeda, S.3
  • 7
    • 48049107099 scopus 로고    scopus 로고
    • The neurological presentation of ceruloplasmin gene mutations
    • McNeill A, Pandolfo M, Kuhn J, Shang H, Miyajima H. The neurological presentation of ceruloplasmin gene mutations. Eur Neurol 2008; 60: 200-5.
    • (2008) Eur Neurol , vol.60 , pp. 200-205
    • McNeill, A.1    Pandolfo, M.2    Kuhn, J.3    Shang, H.4    Miyajima, H.5
  • 8
    • 77953338445 scopus 로고    scopus 로고
    • ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
    • Schneider SA, Paisan-Ruiz C, Quinn NP, et al. ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord 2010; 25: 979-84.
    • (2010) Mov Disord , vol.25 , pp. 979-984
    • Schneider, S.A.1    Paisan-Ruiz, C.2    Quinn, N.P.3
  • 9
    • 62149099955 scopus 로고    scopus 로고
    • Clinical and genetic delineation of neurodegeneration with brain iron accumulation
    • Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 2009; 46: 73-80.
    • (2009) J Med Genet , vol.46 , pp. 73-80
    • Gregory, A.1    Polster, B.J.2    Hayflick, S.J.3
  • 10
    • 42949158787 scopus 로고    scopus 로고
    • * and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
    • * and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 2008; 70: 1614-9.
    • (2008) Neurology , vol.70 , pp. 1614-1619
    • McNeill, A.1    Birchall, D.2    Hayflick, S.J.3
  • 11
    • 42949158281 scopus 로고    scopus 로고
    • Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
    • Kurian MA, Morgan NV, MacPherson L, et al. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology 2008; 70: 1623-9.
    • (2008) Neurology , vol.70 , pp. 1623-1629
    • Kurian, M.A.1    Morgan, N.V.2    MacPherson, L.3
  • 12
    • 0034935036 scopus 로고    scopus 로고
    • A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
    • Zhou B, Westaway SK, Levinson B, et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 2001; 28: 345-9.
    • (2001) Nat Genet , vol.28 , pp. 345-349
    • Zhou, B.1    Westaway, S.K.2    Levinson, B.3
  • 13
    • 33745553895 scopus 로고    scopus 로고
    • PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
    • Morgan NV, Westaway SK, Morton JE, et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet 2006; 38: 752-4.
    • (2006) Nat Genet , vol.38 , pp. 752-754
    • Morgan, N.V.1    Westaway, S.K.2    Morton, J.E.3
  • 14
    • 79954461666 scopus 로고    scopus 로고
    • Identification of a second major locus for neurodegeneration with brain iron accumulation. American Society of Human Genetics 59th Annual Meeting, Honolulu, 20-24th October 2009. Available at .
    • Hartig MB, Iuso A, Hempel M, et al. Identification of a second major locus for neurodegeneration with brain iron accumulation. American Society of Human Genetics 59th Annual Meeting, Honolulu, 20-24th October 2009. Available at .
    • Hartig, M.B.1    Iuso, A.2    Hempel, M.3
  • 15
    • 78249252333 scopus 로고    scopus 로고
    • Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
    • Kruer MC, Paisán-Ruiz C, Boddaert N, et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol 2010; 68: 611-8.
    • (2010) Ann Neurol , vol.68 , pp. 611-618
    • Kruer, M.C.1    Paisán-Ruiz, C.2    Boddaert, N.3
  • 16
    • 33751110649 scopus 로고    scopus 로고
    • PLA2G6 mutation underlies infantile neuroaxonal dystrophy
    • Khateeb S, Flusser H, Ofir R, et al. PLA2G6 mutation underlies infantile neuroaxonal dystrophy. Am J Hum Genet 2006; 79: 942-8.
    • (2006) Am J Hum Genet , vol.79 , pp. 942-948
    • Khateeb, S.1    Flusser, H.2    Ofir, R.3
  • 17
    • 21644483621 scopus 로고    scopus 로고
    • Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cells
    • Balsinde J, Balboa MA. Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cells. Cell Signal 2005; 17: 1052-62.
    • (2005) Cell Signal , vol.17 , pp. 1052-1062
    • Balsinde, J.1    Balboa, M.A.2
  • 18
    • 3142677211 scopus 로고    scopus 로고
    • Catalytic residues of group VIB calcium-independent phospholipase A2 (iPLA2gamma)
    • Tanaka H, Minakami R, Kayana H, Sumimoto H. Catalytic residues of group VIB calcium-independent phospholipase A2 (iPLA2gamma). Biochem Biophys Res Commun 2004; 320: 1284-90.
    • (2004) Biochem Biophys Res Commun , vol.320 , pp. 1284-1290
    • Tanaka, H.1    Minakami, R.2    Kayana, H.3    Sumimoto, H.4
  • 19
    • 73549116096 scopus 로고    scopus 로고
    • Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6
    • Wada H, Yasuda T, Miura I, et al. Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6. Am J Pathol 2009; 175: 2257-63.
    • (2009) Am J Pathol , vol.175 , pp. 2257-2263
    • Wada, H.1    Yasuda, T.2    Miura, I.3
  • 20
    • 39849101072 scopus 로고    scopus 로고
    • Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative disease
    • Shinzawa K, Sumi H, Ikawa M, et al. Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative disease. J Neurosci 2008; 28: 2212-20.
    • (2008) J Neurosci , vol.28 , pp. 2212-2220
    • Shinzawa, K.1    Sumi, H.2    Ikawa, M.3
  • 21
    • 39549085125 scopus 로고    scopus 로고
    • Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations
    • Malik I, Turk J, Mancuso DJ, et al. Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. Am J Pathol 2008; 172: 406-16.
    • (2008) Am J Pathol , vol.172 , pp. 406-416
    • Malik, I.1    Turk, J.2    Mancuso, D.J.3
  • 22
    • 58149229973 scopus 로고    scopus 로고
    • Neurodegeneration associated with genetic defects in phospholipase A(2)
    • Gregory A, Westaway SK, Holm IE, et al. Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology 2008; 71: 1402-9.
    • (2008) Neurology , vol.71 , pp. 1402-1409
    • Gregory, A.1    Westaway, S.K.2    Holm, I.E.3
  • 23
    • 77952095626 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis
    • Crompton D, Rehal PK, Macpherson L, et al. Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis. Mol Genet Metab 2010; 100: 207-12.
    • (2010) Mol Genet Metab , vol.100 , pp. 207-212
    • Crompton, D.1    Rehal, P.K.2    Macpherson, L.3
  • 24
    • 60849091344 scopus 로고    scopus 로고
    • Dystonia-parkinsonism disease gene discovery: expect surprises
    • Hayflick SJ. Dystonia-parkinsonism disease gene discovery: expect surprises. Ann Neurol 2009; 65: 2-3.
    • (2009) Ann Neurol , vol.65 , pp. 2-3
    • Hayflick, S.J.1
  • 25
    • 0036944069 scopus 로고    scopus 로고
    • Dysmorphic face in two siblings with infantile neuroaxonal dystrophy
    • Seven M, Ozkilic A, Yuksel A. Dysmorphic face in two siblings with infantile neuroaxonal dystrophy. Genet Couns 2002; 13: 465-73.
    • (2002) Genet Couns , vol.13 , pp. 465-473
    • Seven, M.1    Ozkilic, A.2    Yuksel, A.3
  • 26
    • 0018629882 scopus 로고
    • Infantile neuroaxonal dystrophy
    • Aicardi J, Castelein P. Infantile neuroaxonal dystrophy. Brain 1979; 102: 727-48.
    • (1979) Brain , vol.102 , pp. 727-748
    • Aicardi, J.1    Castelein, P.2
  • 27
    • 0033594368 scopus 로고    scopus 로고
    • Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria
    • Nardocci N, Zorzi G, Farina L, et al. Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria. Neurology 1999; 52: 1472-8.
    • (1999) Neurology , vol.52 , pp. 1472-1478
    • Nardocci, N.1    Zorzi, G.2    Farina, L.3
  • 28
    • 0017877383 scopus 로고
    • Neuroaxonal dystrophy (Seitelberger's disease) with late onset, protracted course and myoclonic epilepsy
    • Scheithauer BW, Forno LS, Dorfman LJ, Kane CA. Neuroaxonal dystrophy (Seitelberger's disease) with late onset, protracted course and myoclonic epilepsy. J Neurol Sci 1978; 36: 247-58.
    • (1978) J Neurol Sci , vol.36 , pp. 247-258
    • Scheithauer, B.W.1    Forno, L.S.2    Dorfman, L.J.3    Kane, C.A.4
  • 29
    • 0019259245 scopus 로고
    • Late infantile neuroaxonal dystrophy. An unusual case with predominantly myoclonic-epileptic symptomatology
    • Barontini F, Papini M. Late infantile neuroaxonal dystrophy. An unusual case with predominantly myoclonic-epileptic symptomatology. Riv Patol Nerv Ment 1981; 101: 171-84.
    • (1981) Riv Patol Nerv Ment , vol.101 , pp. 171-184
    • Barontini, F.1    Papini, M.2
  • 30
    • 58349116105 scopus 로고    scopus 로고
    • Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy
    • Wu Y, Jiang Y, Gao Z, et al. Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. Eur J Neurol 2009; 16: 240-5.
    • (2009) Eur J Neurol , vol.16 , pp. 240-245
    • Wu, Y.1    Jiang, Y.2    Gao, Z.3
  • 31
    • 0032935631 scopus 로고    scopus 로고
    • Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients
    • Farina L, Nardocci N, Bruzzone MGL, et al. Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients. Neuroradiology 1999; 41: 376-80.
    • (1999) Neuroradiology , vol.41 , pp. 376-380
    • Farina, L.1    Nardocci, N.2    Bruzzone, M.G.L.3
  • 32
    • 0027514441 scopus 로고
    • The use of magnetic resonance imaging in diagnosing infantile neuroaxonal dystrophy
    • Tanabe Y, Iai M, Ishii M, et al. The use of magnetic resonance imaging in diagnosing infantile neuroaxonal dystrophy. Neurology 1993; 43: 110-3.
    • (1993) Neurology , vol.43 , pp. 110-113
    • Tanabe, Y.1    Iai, M.2    Ishii, M.3
  • 33
    • 34247128649 scopus 로고    scopus 로고
    • Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation
    • Biancheri R, Rossi A, Alpigiani G, et al. Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. Eur J Paediatr Neurol 2007; 11: 175-7.
    • (2007) Eur J Paediatr Neurol , vol.11 , pp. 175-177
    • Biancheri, R.1    Rossi, A.2    Alpigiani, G.3
  • 34
    • 53049095219 scopus 로고    scopus 로고
    • Infantile neuroaxonal dystrophy: what's most important for the diagnosis?
    • Carrilho I, Santos M, Guimarães A, et al. Infantile neuroaxonal dystrophy: what's most important for the diagnosis? Eur J Paediatr Neurol 2008; 12: 491-500.
    • (2008) Eur J Paediatr Neurol , vol.12 , pp. 491-500
    • Carrilho, I.1    Santos, M.2    Guimarães, A.3
  • 35
    • 0038163511 scopus 로고    scopus 로고
    • Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum
    • Mubaidin A, Roberts E, Hampshire D, et al. Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum. J Med Genet 2003; 40: 543-6.
    • (2003) J Med Genet , vol.40 , pp. 543-546
    • Mubaidin, A.1    Roberts, E.2    Hampshire, D.3
  • 36
    • 60849121924 scopus 로고    scopus 로고
    • Characterization of PLA2G6 as a locus for dystonia-parkinsonism
    • Paisan-Ruiz C, Bhatia KP, Li A, et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009; 65: 19-23.
    • (2009) Ann Neurol , vol.65 , pp. 19-23
    • Paisan-Ruiz, C.1    Bhatia, K.P.2    Li, A.3
  • 37
    • 57449083599 scopus 로고    scopus 로고
    • R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family
    • Sina F, Shojaee S, Elahi E, Paisán-Ruiz C. R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family. Eur J Neurol 2009; 16: 1-4.
    • (2009) Eur J Neurol , vol.16 , pp. 1-4
    • Sina, F.1    Shojaee, S.2    Elahi, E.3    Paisán-Ruiz, C.4
  • 38
    • 1842504252 scopus 로고    scopus 로고
    • Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration
    • Johnson MA, Kuo YM, Westaway SK, et al. Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. Ann N Y Acad Sci 2004; 1012: 282-98.
    • (2004) Ann N Y Acad Sci , vol.1012 , pp. 282-298
    • Johnson, M.A.1    Kuo, Y.M.2    Westaway, S.K.3
  • 39
    • 31644446112 scopus 로고    scopus 로고
    • Dietary rescue of fumble - a Drosophila model for pantothenate-kinase-associated neurodegeneration
    • Yang Y, Wu Z, Kuo YM, Zhuo B. Dietary rescue of fumble - a Drosophila model for pantothenate-kinase-associated neurodegeneration. J Inherit Metab Dis 2005; 28: 1055-64.
    • (2005) J Inherit Metab Dis , vol.28 , pp. 1055-1064
    • Yang, Y.1    Wu, Z.2    Kuo, Y.M.3    Zhuo, B.4
  • 40
    • 12344334370 scopus 로고    scopus 로고
    • Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
    • Kuo YM, Duncan JL, Westaway SK, et al. Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. Hum Mol Genet 2005; 14: 49-57.
    • (2005) Hum Mol Genet , vol.14 , pp. 49-57
    • Kuo, Y.M.1    Duncan, J.L.2    Westaway, S.K.3
  • 41
    • 34249999964 scopus 로고    scopus 로고
    • Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration
    • Kuo YM, Hayflick SJ, Gitshier J. Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration. J Inherit Metab Dis 2007; 30: 310-7.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 310-317
    • Kuo, Y.M.1    Hayflick, S.J.2    Gitshier, J.3
  • 42
    • 0037413484 scopus 로고    scopus 로고
    • Genetic, clinical, and radiographic delineation of Hallervordern-Spatz syndrome
    • Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervordern-Spatz syndrome. N Engl J Med 2003; 348: 33-40.
    • (2003) N Engl J Med , vol.348 , pp. 33-40
    • Hayflick, S.J.1    Westaway, S.K.2    Levinson, B.3
  • 43
    • 21044449726 scopus 로고    scopus 로고
    • The diverse phenotype and genotype of pantothenate-kinase associated neurodegeneration
    • Pellechia MT, Valente EM, Cif L, et al. The diverse phenotype and genotype of pantothenate-kinase associated neurodegeneration. Neurology 2005; 64: 1810-2.
    • (2005) Neurology , vol.64 , pp. 1810-1812
    • Pellechia, M.T.1    Valente, E.M.2    Cif, L.3
  • 44
    • 32044455822 scopus 로고    scopus 로고
    • Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
    • Hartig MB, Hortnagel K, Garavaglia B, et al. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol 2006; 59: 248-56.
    • (2006) Ann Neurol , vol.59 , pp. 248-256
    • Hartig, M.B.1    Hortnagel, K.2    Garavaglia, B.3
  • 45
    • 34248574213 scopus 로고    scopus 로고
    • Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration
    • Freeman K, Gregory A, Turner A, et al. Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration. J Intellect Disabil Res 2007; 51: 417-26.
    • (2007) J Intellect Disabil Res , vol.51 , pp. 417-426
    • Freeman, K.1    Gregory, A.2    Turner, A.3
  • 46
    • 1342305000 scopus 로고    scopus 로고
    • Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome
    • Molinuevo JL, Marti MJ, Blesa R, Tolosa E. Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome. Mov Disord 2003; 18: 1351-3.
    • (2003) Mov Disord , vol.18 , pp. 1351-1353
    • Molinuevo, J.L.1    Marti, M.J.2    Blesa, R.3    Tolosa, E.4
  • 47
  • 48
    • 32944456913 scopus 로고    scopus 로고
    • The 'eye-of-the-tiger' sign is not pathognomonic of the PANK2 mutation
    • Kumar N, Boes CJ, Babovic-Vuksanovic D, Boeve BF. The 'eye-of-the-tiger' sign is not pathognomonic of the PANK2 mutation. Arch Neurol 2006; 63: 292-3.
    • (2006) Arch Neurol , vol.63 , pp. 292-293
    • Kumar, N.1    Boes, C.J.2    Babovic-Vuksanovic, D.3    Boeve, B.F.4
  • 49
    • 33746510946 scopus 로고    scopus 로고
    • Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings
    • Zolkipli Z, Dahmoush H, Saunders DE, Chong WK, Surtees R. Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings. Pediatr Radiol 2006; 36: 884-6.
    • (2006) Pediatr Radiol , vol.36 , pp. 884-886
    • Zolkipli, Z.1    Dahmoush, H.2    Saunders, D.E.3    Chong, W.K.4    Surtees, R.5
  • 50
    • 35448974165 scopus 로고    scopus 로고
    • Eye of the Tiger sign in multiple systems atrophy
    • Streker K, Hesse S, Wegner F, et al. Eye of the Tiger sign in multiple systems atrophy. Eur J Neurol 2007; 14: e1-2.
    • (2007) Eur J Neurol , vol.14
    • Streker, K.1    Hesse, S.2    Wegner, F.3
  • 51
    • 23744440327 scopus 로고    scopus 로고
    • Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)
    • Egan RA, Weleber RG, Hogarth P, et al. Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). Am J Ophthalmol 2005; 140: 267-74.
    • (2005) Am J Ophthalmol , vol.140 , pp. 267-274
    • Egan, R.A.1    Weleber, R.G.2    Hogarth, P.3
  • 52
    • 77950467334 scopus 로고    scopus 로고
    • Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)
    • Dick KJ, Eckhardt M, Paisán-Ruiz C, et al. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat 2010; 31: E1251-60.
    • (2010) Hum Mutat , vol.31
    • Dick, K.J.1    Eckhardt, M.2    Paisán-Ruiz, C.3
  • 53
    • 55049092207 scopus 로고    scopus 로고
    • Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia
    • Edvardson S, Hama H, Shaag A, et al. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet 2008; 83: 643-8.
    • (2008) Am J Hum Genet , vol.83 , pp. 643-648
    • Edvardson, S.1    Hama, H.2    Shaag, A.3
  • 54
    • 18244406794 scopus 로고    scopus 로고
    • Pallidal stimulation improves pantothenate kinase-associated neurodegeneration
    • Castelnau P, Cif L, Valente EM, et al. Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. Ann Neurol 2005; 57: 738-41.
    • (2005) Ann Neurol , vol.57 , pp. 738-741
    • Castelnau, P.1    Cif, L.2    Valente, E.M.3
  • 55
    • 41749097047 scopus 로고    scopus 로고
    • Pallidal stimulation for pantothenate kinase associated neurodegeneration
    • Isaac C, Wright I, Bhattacharyya D, Baxter P, Rowe J. Pallidal stimulation for pantothenate kinase associated neurodegeneration. Arch Dis Child 2008; 93: 239-40.
    • (2008) Arch Dis Child , vol.93 , pp. 239-240
    • Isaac, C.1    Wright, I.2    Bhattacharyya, D.3    Baxter, P.4    Rowe, J.5
  • 56
    • 77950234474 scopus 로고    scopus 로고
    • Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation
    • Timmermann L, Pauls KA, Wieland K, et al. Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation. Brain 2010; 133: 701-12.
    • (2010) Brain , vol.133 , pp. 701-712
    • Timmermann, L.1    Pauls, K.A.2    Wieland, K.3
  • 57
    • 79551565552 scopus 로고    scopus 로고
    • Cognitive functioning in children with pantothenate-kinase-associated-neurodegeneration undergoing deep brain stimulation
    • Mahoney R, Selway R, Lin J-P. Cognitive functioning in children with pantothenate-kinase-associated-neurodegeneration undergoing deep brain stimulation. Dev Med Child Neurol 2011; 53: 275-9.
    • (2011) Dev Med Child Neurol , vol.53 , pp. 275-279
    • Mahoney, R.1    Selway, R.2    Lin, J.-P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.