메뉴 건너뛰기




Volumn 55, Issue 1, 2013, Pages 46-57

Recognizable phenotypes associated with intracranial calcification

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AICARDI GOUTIERES SYNDROME; ALEXANDER DISEASE; ARTICLE; BASAL GANGLION; BRAIN ATROPHY; BRAIN CALCIFICATION; BRAIN STEM; CAPSULA INTERNA; CHILD; CHROMOSOME ABERRATION; COMPUTER ASSISTED TOMOGRAPHY; CONTRAST ENHANCEMENT; CORPUS CALLOSUM; DENTATE NUCLEUS; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENCEPHALOMALACIA; FAHR DISEASE; FAMILIAL DISEASE; FEMALE; GLOBOID CELL LEUKODYSTROPHY; GRAY MATTER; HEMISPHERE; HUMAN; INFANT; INFANTILE SPASM; LEARNING DISORDER; LEUKOENCEPHALOPATHY; LEUKOMALACIA; MAJOR CLINICAL STUDY; MALE; MALIGNANT ATROPHIC PAPULOSIS; MICROANGIOPATHY; MICROGYRIA; MOLECULAR DIAGNOSIS; MYELINATION; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSERVATIONAL STUDY; PHENOTYPE; PORENCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHIZENCEPHALY; SCHOOL CHILD; SCORING SYSTEM; TETRASOMY; WHITE MATTER;

EID: 84871164748     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2012.04437.x     Document Type: Article
Times cited : (70)

References (45)
  • 1
    • 0032886533 scopus 로고    scopus 로고
    • Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach
    • van der Knaap MS, Breiter SN, Naidu S, Hart AAM, Valk J. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology 1999; 213: 121-33.
    • (1999) Radiology , vol.213 , pp. 121-133
    • van der Knaap, M.S.1    Breiter, S.N.2    Naidu, S.3    Hart, A.A.M.4    Valk, J.5
  • 3
    • 62349126641 scopus 로고    scopus 로고
    • Invited article: an MRI-based approach to the diagnosis of white matter disorders
    • Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009; 72: 750-9.
    • (2009) Neurology , vol.72 , pp. 750-759
    • Schiffmann, R.1    van der Knaap, M.S.2
  • 4
    • 32144433872 scopus 로고    scopus 로고
    • A developmental and genetic classification for malformations of cortical development
    • Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. A developmental and genetic classification for malformations of cortical development. Neurology 2005; 65: 1873-87.
    • (2005) Neurology , vol.65 , pp. 1873-1887
    • Barkovich, A.J.1    Kuzniecky, R.I.2    Jackson, G.D.3    Guerrini, R.4    Dobyns, W.B.5
  • 5
    • 78049461793 scopus 로고    scopus 로고
    • GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex
    • Bahi-Buisson N, Poirier K, Boddaert N, et al.GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain 2010; 133: 3194-209.
    • (2010) Brain , vol.133 , pp. 3194-3209
    • Bahi-Buisson, N.1    Poirier, K.2    Boddaert, N.3
  • 6
    • 78650693958 scopus 로고    scopus 로고
    • Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
    • Namavar Y, Barth PG, Kasher PR, et al.Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain 2011; 134: 143-56.
    • (2011) Brain , vol.134 , pp. 143-156
    • Namavar, Y.1    Barth, P.G.2    Kasher, P.R.3
  • 7
    • 56049099331 scopus 로고    scopus 로고
    • Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome
    • Abdel-Salem GM, Zaki MS, Saleem SN, Gaber KR. Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. Am J Med Genet A 2008; 146: 2929-36.
    • (2008) Am J Med Genet A , vol.146 , pp. 2929-2936
    • Abdel-Salem, G.M.1    Zaki, M.S.2    Saleem, S.N.3    Gaber, K.R.4
  • 8
    • 57149119935 scopus 로고    scopus 로고
    • Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype
    • Briggs TA, Wolf NI, D'Arrigo S, et al.Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. Am J Med Genet A 2008; 146: 3173-80.
    • (2008) Am J Med Genet A , vol.146 , pp. 3173-3180
    • Briggs, T.A.1    Wolf, N.I.2    D'Arrigo, S.3
  • 9
    • 67649870802 scopus 로고    scopus 로고
    • Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: a distinctive form of congenital infection like syndrome
    • Abdel-Salam GM, Zaki MS. Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: a distinctive form of congenital infection like syndrome. Am J Med Genet A 2009; 149: 1565-8.
    • (2009) Am J Med Genet A , vol.149 , pp. 1565-1568
    • Abdel-Salam, G.M.1    Zaki, M.S.2
  • 10
    • 77956374543 scopus 로고    scopus 로고
    • Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria
    • O'Driscoll MC, Daly SB, Urquhart JE, et al.Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet 2010; 87: 354-64.
    • (2010) Am J Hum Genet , vol.87 , pp. 354-364
    • O'Driscoll, M.C.1    Daly, S.B.2    Urquhart, J.E.3
  • 11
    • 33750341691 scopus 로고    scopus 로고
    • Cerebroretinal microangiopathy with calcifications and cysts
    • Linnankivi T, Valanne L, Paetau A, et al.Cerebroretinal microangiopathy with calcifications and cysts. Neurology 2006; 67: 1437-43.
    • (2006) Neurology , vol.67 , pp. 1437-1443
    • Linnankivi, T.1    Valanne, L.2    Paetau, A.3
  • 12
    • 37849034076 scopus 로고    scopus 로고
    • Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
    • Briggs TA, Abdel-Salam GMH, Balicki M, et al.Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A 2008; 146: 182-90.
    • (2008) Am J Med Genet A , vol.146 , pp. 182-190
    • Briggs, T.A.1    Abdel-Salam, G.M.H.2    Balicki, M.3
  • 13
    • 12144291155 scopus 로고    scopus 로고
    • Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integuement
    • Crow YJ, McMenamin J, Haengelli CA, et al.Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integuement. Neuropediatrics 2004; 35: 10-9.
    • (2004) Neuropediatrics , vol.35 , pp. 10-19
    • Crow, Y.J.1    McMenamin, J.2    Haengelli, C.A.3
  • 14
    • 0030014595 scopus 로고    scopus 로고
    • Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy
    • Labrune P, Lacroix C, Goutières F, et al.Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. Neurology 1996; 46: 1297-301.
    • (1996) Neurology , vol.46 , pp. 1297-1301
    • Labrune, P.1    Lacroix, C.2    Goutières, F.3
  • 15
    • 84863393024 scopus 로고    scopus 로고
    • Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
    • Anderson BH, Kasher PR, Mayer J, et al.Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet 2012; 44: 338-42.
    • (2012) Nat Genet , vol.44 , pp. 338-342
    • Anderson, B.H.1    Kasher, P.R.2    Mayer, J.3
  • 16
    • 0004289354 scopus 로고    scopus 로고
    • 4th edn. Philadelphia: Lippincott Williams & Wilkins
    • Barkovich AJ. Pediatric Neuroimaging. 4th edn. Philadelphia: Lippincott Williams & Wilkins, 2005.
    • (2005) Pediatric Neuroimaging
    • Barkovich, A.J.1
  • 17
    • 67651173334 scopus 로고    scopus 로고
    • Degos disease: a new simulator of non-accidental injury
    • Moss C, Wassmer E, Debelle G, et al.Degos disease: a new simulator of non-accidental injury. Dev Med Child Neurol 2009; 51: 647-50.
    • (2009) Dev Med Child Neurol , vol.51 , pp. 647-650
    • Moss, C.1    Wassmer, E.2    Debelle, G.3
  • 19
    • 84860254760 scopus 로고    scopus 로고
    • Intracranial calcification in early infantile Krabbe disease: nothing new under the sun
    • Livingston JH, Graziano C, Pysden K, et al.Intracranial calcification in early infantile Krabbe disease: nothing new under the sun. Dev Med Child Neurol 2011; 54: 376-9.
    • (2011) Dev Med Child Neurol , vol.54 , pp. 376-379
    • Livingston, J.H.1    Graziano, C.2    Pysden, K.3
  • 20
    • 78349235016 scopus 로고    scopus 로고
    • Alexander disease with periventricular calcification: a novel mutation of the GFAP gene
    • Jefferson RJ, Absoud M, Jain R, et al.Alexander disease with periventricular calcification: a novel mutation of the GFAP gene. Dev Med Child Neurol 2010; 52: 1160-3.
    • (2010) Dev Med Child Neurol , vol.52 , pp. 1160-1163
    • Jefferson, R.J.1    Absoud, M.2    Jain, R.3
  • 21
    • 77950443767 scopus 로고    scopus 로고
    • New subtype of familial intracranial calcification in a mother and two children
    • Elsaid MF, Crow YJ, Livingston JH, Ben-Omran T. New subtype of familial intracranial calcification in a mother and two children. Am J Med Genet A 2010; 152: 943-6.
    • (2010) Am J Med Genet A , vol.152 , pp. 943-946
    • Elsaid, M.F.1    Crow, Y.J.2    Livingston, J.H.3    Ben-Omran, T.4
  • 22
    • 0026410630 scopus 로고
    • Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults
    • van der Knaap MS, Valk J, de Neeling N, Nauta JJP. Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults. Neuroradiology 1991; 33: 478-93.
    • (1991) Neuroradiology , vol.33 , pp. 478-493
    • van der Knaap, M.S.1    Valk, J.2    de Neeling, N.3    Nauta, J.J.P.4
  • 23
    • 0033172887 scopus 로고    scopus 로고
    • Aicardi-Goutières syndrome: a genetic microangiopathy?
    • Barth PG, Walter A, van Gelderen I. Aicardi-Goutières syndrome: a genetic microangiopathy?Acta Neuropathol 1999; 98: 212-6.
    • (1999) Acta Neuropathol , vol.98 , pp. 212-216
    • Barth, P.G.1    Walter, A.2    van Gelderen, I.3
  • 24
    • 4444219710 scopus 로고    scopus 로고
    • The neuropathology of Aicardi-Goutières syndrome
    • Barth PG. The neuropathology of Aicardi-Goutières syndrome. Eur J Pediatr Neurol 2002; 6(Suppl. A): 26-31.
    • (2002) Eur J Pediatr Neurol , vol.6 , Issue.SUPPL A , pp. 26-31
    • Barth, P.G.1
  • 25
    • 0017756137 scopus 로고
    • Presence of zinc, aluminum, magnesium in striopallidodentate (SPD) calcifications (Fahr's disease): electron probe study
    • Duckett S, Galle P, Escourolle R, Poirier J, Hauw JJ. Presence of zinc, aluminum, magnesium in striopallidodentate (SPD) calcifications (Fahr's disease): electron probe study. Acta Neuropathol (Berl) 1977; 38: 7-10.
    • (1977) Acta Neuropathol (Berl) , vol.38 , pp. 7-10
    • Duckett, S.1    Galle, P.2    Escourolle, R.3    Poirier, J.4    Hauw, J.J.5
  • 26
    • 0037365441 scopus 로고    scopus 로고
    • Immunohistochemical examination on intracranial calcification in neurodegenerative diseases
    • Fujita D, Terada S, Ishizu H, et al.Immunohistochemical examination on intracranial calcification in neurodegenerative diseases. Acta Neuropathol 2003; 105: 259-64.
    • (2003) Acta Neuropathol , vol.105 , pp. 259-264
    • Fujita, D.1    Terada, S.2    Ishizu, H.3
  • 27
    • 43949144252 scopus 로고    scopus 로고
    • Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection
    • Crow YJ, Livingston JH. Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection. Dev Med Child Neurol 2008; 50: 410-6.
    • (2008) Dev Med Child Neurol , vol.50 , pp. 410-416
    • Crow, Y.J.1    Livingston, J.H.2
  • 28
    • 33746581694 scopus 로고    scopus 로고
    • Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
    • Crow YJ, Hayward BE, Parmar R, et al.Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet 2006; 38: 917-20.
    • (2006) Nat Genet , vol.38 , pp. 917-920
    • Crow, Y.J.1    Hayward, B.E.2    Parmar, R.3
  • 29
    • 33746522835 scopus 로고    scopus 로고
    • Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
    • Crow YJ, Leitch A, Hayward BE, et al.Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet 2006; 38: 910-6.
    • (2006) Nat Genet , vol.38 , pp. 910-916
    • Crow, Y.J.1    Leitch, A.2    Hayward, B.E.3
  • 30
    • 67649861901 scopus 로고    scopus 로고
    • Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
    • Rice GI, Bond J, Asipu A, et al.Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 2009; 41: 829-32.
    • (2009) Nat Genet , vol.41 , pp. 829-832
    • Rice, G.I.1    Bond, J.2    Asipu, A.3
  • 31
    • 83555164881 scopus 로고    scopus 로고
    • HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase
    • Goldstone DC, Ennis-Adeniran V, Hedden JJ, et al.HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. Nature 2011; 480: 379-82.
    • (2011) Nature , vol.480 , pp. 379-382
    • Goldstone, D.C.1    Ennis-Adeniran, V.2    Hedden, J.J.3
  • 32
    • 2442486655 scopus 로고    scopus 로고
    • The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection
    • de Vries LS, Gunardi H, Barth PG, Bok LA, Verboon-Maciolek MA, Groenendaal F. The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection. Neuropediatrics 2004; 35: 113-9.
    • (2004) Neuropediatrics , vol.35 , pp. 113-119
    • de Vries, L.S.1    Gunardi, H.2    Barth, P.G.3    Bok, L.A.4    Verboon-Maciolek, M.A.5    Groenendaal, F.6
  • 33
    • 1642540063 scopus 로고    scopus 로고
    • Pattern of white matter abnormalities at MR imaging: use of polymerase chain reaction testing of guthrie cards to link pattern with congenital cytomegalovirus infection
    • van der Knaap MS, Vermeulen G, Barkhof F, Hart AAM, Loeber JG, Weel JFL. Pattern of white matter abnormalities at MR imaging: use of polymerase chain reaction testing of guthrie cards to link pattern with congenital cytomegalovirus infection. Radiology 2004; 230: 529-36.
    • (2004) Radiology , vol.230 , pp. 529-536
    • van der Knaap, M.S.1    Vermeulen, G.2    Barkhof, F.3    Hart, A.A.M.4    Loeber, J.G.5    Weel, J.F.L.6
  • 34
    • 20244368334 scopus 로고    scopus 로고
    • Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children
    • Henneke M, Preuss N, Engelbrecht V, et al.Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children. Neurology 2005; 64: 1411-6.
    • (2005) Neurology , vol.64 , pp. 1411-1416
    • Henneke, M.1    Preuss, N.2    Engelbrecht, V.3
  • 35
    • 67649881103 scopus 로고    scopus 로고
    • RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection
    • Henneke M, Diekmann S, Ohlenbusch A, et al.RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet 2009; 41: 773-5.
    • (2009) Nat Genet , vol.41 , pp. 773-775
    • Henneke, M.1    Diekmann, S.2    Ohlenbusch, A.3
  • 36
    • 0037435523 scopus 로고    scopus 로고
    • Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy
    • Vahedi K, Massin P, Guichard JP, et al.Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. Neurology 2003; 60: 57-63.
    • (2003) Neurology , vol.60 , pp. 57-63
    • Vahedi, K.1    Massin, P.2    Guichard, J.P.3
  • 37
    • 33745261734 scopus 로고    scopus 로고
    • Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly
    • Breedveld G, de Coo IF, Lequin MH, et al.Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet 2006; 43: 490-5.
    • (2006) J Med Genet , vol.43 , pp. 490-495
    • Breedveld, G.1    de Coo, I.F.2    Lequin, M.H.3
  • 38
    • 34247618247 scopus 로고    scopus 로고
    • COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage
    • Vahedi K, Kubis N, Boukobza M, et al.COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. Stroke 2007; 38: 1461-4.
    • (2007) Stroke , vol.38 , pp. 1461-1464
    • Vahedi, K.1    Kubis, N.2    Boukobza, M.3
  • 39
    • 60849136017 scopus 로고    scopus 로고
    • Intracerebral haemorrhage and COL4A1 mutations, from preterm infants to adult patients
    • Mine M, Tournier-Lasserve E. Intracerebral haemorrhage and COL4A1 mutations, from preterm infants to adult patients. Ann Neurol 2009; 65: 1-2.
    • (2009) Ann Neurol , vol.65 , pp. 1-2
    • Mine, M.1    Tournier-Lasserve, E.2
  • 40
    • 83655202819 scopus 로고    scopus 로고
    • COL4A1 mutations associated with a characteristic pattern of intracranial calcification
    • Livingston JH, Doherty D, Orcesi S, et al. COL4A1 mutations associated with a characteristic pattern of intracranial calcification. Neuropediatrics 2011; 42: 227-33.
    • (2011) Neuropediatrics , vol.42 , pp. 227-233
    • Livingston, J.H.1    Doherty, D.2    Orcesi, S.3
  • 41
    • 71849097199 scopus 로고    scopus 로고
    • Mutation of the variant alpha tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia
    • Abdollahi MR, Morrison E, Sirey T, et al.Mutation of the variant alpha tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Am J Hum Genet 2009; 85: 737-44.
    • (2009) Am J Hum Genet , vol.85 , pp. 737-744
    • Abdollahi, M.R.1    Morrison, E.2    Sirey, T.3
  • 42
    • 67349176352 scopus 로고    scopus 로고
    • Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
    • Jaglin XH, Poirier K, Saillour Y, et al.Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet 2009; 41: 746-52.
    • (2009) Nat Genet , vol.41 , pp. 746-752
    • Jaglin, X.H.1    Poirier, K.2    Saillour, Y.3
  • 43
    • 79959905825 scopus 로고    scopus 로고
    • Genetic assessment of cortical malformations
    • Hehr U, Schuierer G. Genetic assessment of cortical malformations. Neuropediatrics 2011; 42: 43-50.
    • (2011) Neuropediatrics , vol.42 , pp. 43-50
    • Hehr, U.1    Schuierer, G.2
  • 44
    • 14044252284 scopus 로고    scopus 로고
    • What is and what is not "Fahr's disease"?
    • Manyam BV. What is and what is not "Fahr's disease"?Parkinsonism Relat Disord 2005; 11: 73-80.
    • (2005) Parkinsonism Relat Disord , vol.11 , pp. 73-80
    • Manyam, B.V.1
  • 45
    • 84862798098 scopus 로고    scopus 로고
    • Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
    • Wang C, Li Y, Shi L, et al.Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 2012; 44: 254-6.
    • (2012) Nat Genet , vol.44 , pp. 254-256
    • Wang, C.1    Li, Y.2    Shi, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.