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Volumn 86, Issue 1, 2016, Pages 28-35

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

Author keywords

[No Author keywords available]

Indexed keywords

AICARDI GOUTIERES SYNDROME; ARTICLE; BRAIN ATROPHY; BRAIN CALCIFICATION; CHILD; CLINICAL EVALUATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; FEMALE; FOLLOW UP; GENE MUTATION; GENOTYPE; HUMAN; LEUKOENCEPHALOPATHY; MAJOR CLINICAL STUDY; MALE; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; WHITE MATTER; ADOLESCENT; DIAGNOSTIC IMAGING; GENETICS; INFANT; NERVOUS SYSTEM MALFORMATION; NEUROLOGIC DISEASE; NEWBORN; PRESCHOOL CHILD; X-RAY COMPUTED TOMOGRAPHY; YOUNG ADULT;

EID: 84952334342     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000002228     Document Type: Article
Times cited : (70)

References (33)
  • 1
    • 33746581694 scopus 로고    scopus 로고
    • Mutations in the gene encoding the 39-59 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 39-59 DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet 2006; 38: 917-920
    • (2006) Nat Genet , vol.38 , pp. 917-920
    • Crow, Y.J.1    Hayward, B.E.2    Parmar, R.3
  • 2
    • 33746522835 scopus 로고    scopus 로고
    • Mutations in genes encoding ribonuclease h2 subunits cause aicardi-goutieres syndrome and mimic congenital viral brain infection
    • Crow YJ, Leitch A, Hayward BE, et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat Genet 2006; 38: 910-916
    • (2006) Nat Genet , vol.38 , pp. 910-916
    • Crow, Y.J.1    Leitch, A.2    Hayward, B.E.3
  • 3
    • 67649861901 scopus 로고    scopus 로고
    • Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
    • Rice GI, Bond J, Asipu A, et al. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 2009; 41: 829-832
    • (2009) Nat Genet , vol.41 , pp. 829-832
    • Rice, G.I.1    Bond, J.2    Asipu, A.3
  • 4
    • 84868207785 scopus 로고    scopus 로고
    • Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type i interferon signature
    • Rice GI, Kasher PR, Forte GM, et al. Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. Nat Genet 2012; 44: 1243-1248
    • (2012) Nat Genet , vol.44 , pp. 1243-1248
    • Rice, G.I.1    Kasher, P.R.2    Forte, G.M.3
  • 5
    • 84899495767 scopus 로고    scopus 로고
    • Gain-offunction mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type i interferon signaling
    • Rice GI, del Toro Duany Y, Jenkinson EM, et al. Gain-offunction mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet 2014; 46: 503-509
    • (2014) Nat Genet , vol.46 , pp. 503-509
    • Rice, G.I.1    Del Toro Duany, Y.2    Jenkinson, E.M.3
  • 6
    • 18144394330 scopus 로고    scopus 로고
    • The natural history of Aicardi-Goutieres syndrome: Follow-up of 11 Italian patients
    • Lanzi G, Fazzi E, DArrigo S, et al. The natural history of Aicardi-Goutieres syndrome: follow-up of 11 Italian patients. Neurology 2005; 64: 1621-1624
    • (2005) Neurology , vol.64 , pp. 1621-1624
    • Lanzi, G.1    Fazzi, E.2    DArrigo, S.3
  • 7
    • 0021336060 scopus 로고
    • A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
    • Aicardi J, Goutieres F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 1984; 15: 49-54
    • (1984) Ann Neurol , vol.15 , pp. 49-54
    • Aicardi, J.1    Goutieres, F.2
  • 8
    • 10944240851 scopus 로고    scopus 로고
    • Aicardi-Goutieres syndrome: A description of 21 new cases and a comparison with the literature
    • suppl A discussion A23-25, A77-A86
    • Lanzi G, Fazzi E, DArrigo S. Aicardi-Goutieres syndrome: a description of 21 new cases and a comparison with the literature. Eur J Paediatr Neurol 2002; 6(suppl A): A9-A22; discussion A23-25, A77-A86
    • (2002) Eur J Paediatr Neurol , vol.6 , pp. A9-A22
    • Lanzi, G.1    Fazzi, E.2    DArrigo, S.3
  • 9
    • 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: 410-416
    • (2008) Dev Med Child Neurol , vol.50 , pp. 410-416
    • Crow, Y.J.1    Livingston, J.H.2
  • 10
    • 84921417123 scopus 로고    scopus 로고
    • Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
    • Crow YJ, Chase DS, Lowenstein Schmidt J, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A 2015; 167: 296-312
    • (2015) Am J Med Genet A , vol.167 , pp. 296-312
    • Crow, Y.J.1    Chase, D.S.2    Lowenstein Schmidt, J.3
  • 12
    • 48549098206 scopus 로고    scopus 로고
    • Aicardi-Goutieres syndrome presenting atypically as a sub-acute leukoencephalopathy
    • Orcesi S, Pessagno A, Biancheri R, et al. Aicardi-Goutieres syndrome presenting atypically as a sub-acute leukoencephalopathy. Eur J Paediatr Neurol 2008; 12: 408-411
    • (2008) Eur J Paediatr Neurol , vol.12 , pp. 408-411
    • Orcesi, S.1    Pessagno, A.2    Biancheri, R.3
  • 13
    • 48749098382 scopus 로고    scopus 로고
    • Aicardi-Goutieres syndrome: Description of a late onset case
    • DArrigo S, Riva D, Bulgheroni S, et al. Aicardi-Goutieres syndrome: description of a late onset case. Dev Med Child Neurol 2008; 50: 631-634
    • (2008) Dev Med Child Neurol , vol.50 , pp. 631-634
    • DArrigo, S.1    Riva, D.2    Bulgheroni, S.3
  • 14
    • 84928949133 scopus 로고    scopus 로고
    • Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome
    • La Piana R, Tran L, Guerrero K, et al. Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome. Neuropediatrics 2014; 45: 406-410
    • (2014) Neuropediatrics , vol.45 , pp. 406-410
    • La Piana, R.1    Tran, L.2    Guerrero, K.3
  • 15
    • 84908699156 scopus 로고    scopus 로고
    • Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia
    • Crow YJ, Zaki MS, Abdel-Hamid MS, et al. Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Neuropediatrics 2014; 45: 386-393
    • (2014) Neuropediatrics , vol.45 , pp. 386-393
    • Crow, Y.J.1    Zaki, M.S.2    Abdel-Hamid, M.S.3
  • 18
    • 35349019691 scopus 로고    scopus 로고
    • Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    • Rice G, Patrick T, Parmar R, et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 2007; 81: 713-725
    • (2007) Am J Hum Genet , vol.81 , pp. 713-725
    • Rice, G.1    Patrick, T.2    Parmar, R.3
  • 19
    • 79955116597 scopus 로고    scopus 로고
    • Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke
    • Xin B, Jones S, Puffenberger EG, et al. Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. Proc Natl Acad Sci USA 2011; 108: 5372-5377
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 5372-5377
    • Xin, B.1    Jones, S.2    Puffenberger, E.G.3
  • 20
    • 78049446781 scopus 로고    scopus 로고
    • Cerebral arterial stenoses and stroke: Novel features of aicardi-goutieres syndrome caused by the arg164x mutation in samhd1 are associated with altered cytokine expression
    • Thiele H, du Moulin M, Barczyk K, et al. Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutieres syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat 2010; 31: E1836-E1850
    • (2010) Hum Mutat , vol.31 , pp. E1836-E1850
    • Thiele, H.1    Du Moulin, M.2    Barczyk, K.3
  • 21
    • 77955145461 scopus 로고    scopus 로고
    • Intracerebral large artery disease in Aicardi-Goutieres syndrome implicates SAMHD1 in vascular homeostasis
    • Ramesh V, Bernardi B, Stafa A, et al. Intracerebral large artery disease in Aicardi-Goutieres syndrome implicates SAMHD1 in vascular homeostasis. Dev Med Child Neurol 2010; 52: 725-732
    • (2010) Dev Med Child Neurol , vol.52 , pp. 725-732
    • Ramesh, V.1    Bernardi, B.2    Stafa, A.3
  • 22
    • 84882989850 scopus 로고    scopus 로고
    • Dysregulation of the immune system in Aicardi-Goutieres syndrome: Another example in a TREX1-mutated patient
    • Olivieri I, Cattalini M, Tonduti D, et al. Dysregulation of the immune system in Aicardi-Goutieres syndrome: another example in a TREX1-mutated patient. Lupus 2013; 22: 1064-1069
    • (2013) Lupus , vol.22 , pp. 1064-1069
    • Olivieri, I.1    Cattalini, M.2    Tonduti, D.3
  • 23
    • 84894063757 scopus 로고    scopus 로고
    • A type i interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1
    • Livingston JH, Lin JP, Dale RC, et al. A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. J Med Genet 2014; 51: 76-82
    • (2014) J Med Genet , vol.51 , pp. 76-82
    • Livingston, J.H.1    Lin, J.P.2    Dale, R.C.3
  • 24
    • 84894259907 scopus 로고    scopus 로고
    • Bilateral striatal necrosis in two subjects with Aicardi-Goutieres syndrome due to mutations in ADAR1 (AGS6
    • La Piana R, Uggetti C, Olivieri I, et al. Bilateral striatal necrosis in two subjects with Aicardi-Goutieres syndrome due to mutations in ADAR1 (AGS6). Am J Med Genet A 2014; 164A: 815-819
    • (2014) Am J Med Genet A , vol.164 , pp. 815-819
    • La Piana, R.1    Uggetti, C.2    Olivieri, I.3
  • 25
    • 62049084378 scopus 로고    scopus 로고
    • Research electronic data capture (REDCap): A metadata-driven methodology and workflow process for providing translational research informatics support
    • Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap): a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform 2009; 42: 377-381
    • (2009) J Biomed Inform , vol.42 , pp. 377-381
    • Harris, P.A.1    Taylor, R.2    Thielke, R.3    Payne, J.4    Gonzalez, N.5    Conde, J.G.6
  • 26
    • 84887607415 scopus 로고    scopus 로고
    • Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study
    • Rice GI, Forte GM, Szynkiewicz M, et al. Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol 2013; 12: 1159-1169
    • (2013) Lancet Neurol , vol.12 , pp. 1159-1169
    • Rice, G.I.1    Forte, G.M.2    Szynkiewicz, M.3
  • 27
    • 84902318179 scopus 로고    scopus 로고
    • Intracranial calcification in childhood: A review of aetiologies and recognizable phenotypes
    • Livingston JH, Stivaros S, Warren D, Crow YJ. Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes. Dev Med Child Neurol 2014; 56: 612-626
    • (2014) Dev Med Child Neurol , vol.56 , pp. 612-626
    • Livingston, J.H.1    Stivaros, S.2    Warren, D.3    Crow, Y.J.4
  • 28
    • 84939506933 scopus 로고    scopus 로고
    • Early-onset Aicardi-Goutieres syndrome: Magnetic resonance imaging (MRI) pattern recognition
    • Vanderver A, Prust M, Kadom N, et al. Early-onset Aicardi-Goutieres syndrome: magnetic resonance imaging (MRI) pattern recognition. J Child Neurol 2015; 30: 1343-1348
    • (2015) J Child Neurol , vol.30 , pp. 1343-1348
    • Vanderver, A.1    Prust, M.2    Kadom, N.3
  • 29
    • 62349126641 scopus 로고    scopus 로고
    • Invited article: An MRIbased approach to the diagnosis of white matter disorders
    • Schiffmann R, van Der Knaap MS. Invited article: an MRIbased approach to the diagnosis of white matter disorders. Neurology 2009; 72: 750-759
    • (2009) Neurology , vol.72 , pp. 750-759
    • Schiffmann, R.1    Van Der Knaap, M.S.2
  • 30
    • 84878016439 scopus 로고    scopus 로고
    • Cockayne syndrome: The expanding clinical and mutational spectrum
    • Laugel V. Cockayne syndrome: the expanding clinical and mutational spectrum. Mech Ageing Dev 2013; 134: 161-170
    • (2013) Mech Ageing Dev , vol.134 , pp. 161-170
    • Laugel, V.1
  • 32
    • 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: 773-775
    • (2009) Nat Genet , vol.41 , pp. 773-775
    • Henneke, M.1    Diekmann, S.2    Ohlenbusch, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.