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Volumn 49, Issue 5, 2013, Pages 351-354

Idiopathic basal ganglia calcifications: An atypical presentation of PKAN

Author keywords

basal ganglia; calcification; dystonia; eye of the tiger; Fahr disease; genetics; neurodegeneration; PANK2; pantothenate kinase; PKAN

Indexed keywords

MITOCHONDRIAL DNA; PANTOTHENATE KINASE 2;

EID: 84886719252     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2013.06.021     Document Type: Article
Times cited : (27)

References (15)
  • 1
    • 62149099955 scopus 로고    scopus 로고
    • Clinical and genetic delineation of neurodegeneration with brain iron accumulation
    • A. Gregory, B.J. Polster, and S.J. Hayflick Clinical and genetic delineation of neurodegeneration with brain iron accumulation J Med Genet 46 2009 73 80
    • (2009) J Med Genet , vol.46 , pp. 73-80
    • Gregory, A.1    Polster, B.J.2    Hayflick, S.J.3
  • 2
    • 0037413484 scopus 로고    scopus 로고
    • Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome
    • S.J. Hayflick, S.K. Westaway, and B. Levinson Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome N Engl J Med 348 2003 33 40
    • (2003) N Engl J Med , vol.348 , pp. 33-40
    • Hayflick, S.J.1    Westaway, S.K.2    Levinson, B.3
  • 3
    • 84858276575 scopus 로고    scopus 로고
    • Analysis of DNA sequence variants detected by high-throughput sequencing
    • D.R. Adams, M. Sincan, and K. Fuentes Fajardo Analysis of DNA sequence variants detected by high-throughput sequencing Hum Mutat 33 2012 599 608
    • (2012) Hum Mutat , vol.33 , pp. 599-608
    • Adams, D.R.1    Sincan, M.2    Fuentes Fajardo, K.3
  • 4
    • 32044455822 scopus 로고    scopus 로고
    • Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
    • M.B. Hartig, K. Hortnagel, and B. Garavaglia Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation Ann Neurol 59 2006 248 256
    • (2006) Ann Neurol , vol.59 , pp. 248-256
    • Hartig, M.B.1    Hortnagel, K.2    Garavaglia, B.3
  • 5
    • 84858285697 scopus 로고    scopus 로고
    • Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations
    • V. Leoni, L. Strittmatter, and G. Zorzi Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations Mol Genet Metab 105 2012 463 471
    • (2012) Mol Genet Metab , vol.105 , pp. 463-471
    • Leoni, V.1    Strittmatter, L.2    Zorzi, G.3
  • 6
    • 80053045912 scopus 로고    scopus 로고
    • The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration
    • L. Chiapparini, M. Savoiardo, and S. D'Arrigo The "eye-of-the- tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration Neuropediatrics 42 2011 159 162
    • (2011) Neuropediatrics , vol.42 , pp. 159-162
    • Chiapparini, L.1    Savoiardo, M.2    D'Arrigo, S.3
  • 7
    • 84858155272 scopus 로고    scopus 로고
    • Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation
    • D. Rossi, E. De Grandis, and C. Barzaghi Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation Brain Dev 34 2012 536 538
    • (2012) Brain Dev , vol.34 , pp. 536-538
    • Rossi, D.1    De Grandis, E.2    Barzaghi, C.3
  • 8
    • 23644462058 scopus 로고    scopus 로고
    • The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome
    • F.A. Baumeister, D.P. Auer, K. Hortnagel, P. Freisinger, and T. Meitinger The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome Neuropediatrics 36 2005 221 222
    • (2005) Neuropediatrics , vol.36 , pp. 221-222
    • Baumeister, F.A.1    Auer, D.P.2    Hortnagel, K.3    Freisinger, P.4    Meitinger, T.5
  • 9
    • 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
    • Z. Zolkipli, H. Dahmoush, D.E. Saunders, W.K. Chong, and R. Surtees 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 36 2006 884 886
    • (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
  • 10
    • 84858713605 scopus 로고    scopus 로고
    • Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN)
    • R.F. Delgado, P.R. Sanchez, and H. Speckter Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN) J Magn Reson Imaging 35 2012 788 794
    • (2012) J Magn Reson Imaging , vol.35 , pp. 788-794
    • Delgado, R.F.1    Sanchez, P.R.2    Speckter, H.3
  • 11
    • 0023832532 scopus 로고
    • Mineralization of the basal ganglia detected by CT in Hallervorden-Spatz syndrome
    • M.B. Tennison, T.W. Bouldin, and R.A. Whaley Mineralization of the basal ganglia detected by CT in Hallervorden-Spatz syndrome Neurology 38 1988 154 155
    • (1988) Neurology , vol.38 , pp. 154-155
    • Tennison, M.B.1    Bouldin, T.W.2    Whaley, R.A.3
  • 12
    • 0018709076 scopus 로고
    • Nonspecific accumulation of metals in the globus pallidus in Hallervorden-Spatz disease
    • W. Goldberg, and N. Allen Nonspecific accumulation of metals in the globus pallidus in Hallervorden-Spatz disease Trans Am Neurol Assoc 104 1979 106 108
    • (1979) Trans Am Neurol Assoc , vol.104 , pp. 106-108
    • Goldberg, W.1    Allen, N.2
  • 13
    • 14044252284 scopus 로고    scopus 로고
    • What is and what is not 'Fahr's disease'
    • B.V. Manyam What is and what is not 'Fahr's disease' Parkinsonism Relat Disord 11 2005 73 80
    • (2005) Parkinsonism Relat Disord , vol.11 , pp. 73-80
    • Manyam, B.V.1
  • 14
    • 78650639487 scopus 로고    scopus 로고
    • High Levels of copper, zinc, iron and magnesium, but not calcium, in the cerebrospinal fluid of patients with Fahr's disease
    • I. Hozumi, A. Kohmura, and A. Kimura High Levels of copper, zinc, iron and magnesium, but not calcium, in the cerebrospinal fluid of patients with Fahr's disease Case Rep Neurol 2 2010 46 51
    • (2010) Case Rep Neurol , vol.2 , pp. 46-51
    • Hozumi, I.1    Kohmura, A.2    Kimura, A.3
  • 15
    • 84880924945 scopus 로고    scopus 로고
    • Treatment of classic pantothenate kinase-associated neurodegeneration with deferiprone and intrathecal baclofen
    • [e-pub ahead of print]
    • N.R. Pratini, N. Sweeters, E. Vichinsky, and J.A. Neufeld Treatment of classic pantothenate kinase-associated neurodegeneration with deferiprone and intrathecal baclofen [e-pub ahead of print] Am J Phys Med Rehabil Jan 30, 2013
    • (2013) Am J Phys Med Rehabil
    • Pratini, N.R.1    Sweeters, N.2    Vichinsky, E.3    Neufeld, J.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.