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Volumn 22, Issue 2, 2015, Pages 328-333

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis

Author keywords

Hereditary diffuse leukoencephalopathy with spheroids; White matter lesions

Indexed keywords

BETA1A INTERFERON; COLONY STIMULATING FACTOR 1; COLONY STIMULATING FACTOR 1 RECEPTOR; COLONY STIMULATING FACTOR RECEPTOR; IMMUNOGLOBULIN G; UNCLASSIFIED DRUG;

EID: 84920582792     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/ene.12572     Document Type: Article
Times cited : (46)

References (27)
  • 1
    • 84856273853 scopus 로고    scopus 로고
    • Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
    • Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2011; 44: 200-205.
    • (2011) Nat Genet , vol.44 , pp. 200-205
    • Rademakers, R.1    Baker, M.2    Nicholson, A.M.3
  • 3
    • 84861959328 scopus 로고    scopus 로고
    • Update of the original HDLS kindred: divergent clinical courses
    • Sundal C, Ekholm S, Nordborg C, et al. Update of the original HDLS kindred: divergent clinical courses. Acta Neurol Scand 2012; 126: 67-75.
    • (2012) Acta Neurol Scand , vol.126 , pp. 67-75
    • Sundal, C.1    Ekholm, S.2    Nordborg, C.3
  • 4
    • 84883277154 scopus 로고    scopus 로고
    • Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations
    • Sundal C, Fujioka S, Van Gerpen JA, et al. Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism Relat Disord 2013; 19: 869-877.
    • (2013) Parkinsonism Relat Disord , vol.19 , pp. 869-877
    • Sundal, C.1    Fujioka, S.2    Van Gerpen, J.A.3
  • 5
    • 84873947606 scopus 로고    scopus 로고
    • Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R
    • Kondo Y, Kinoshita M, Fukushima K, Yoshida K, Ikeda S. Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. Intern Med 2013; 52: 503-506.
    • (2013) Intern Med , vol.52 , pp. 503-506
    • Kondo, Y.1    Kinoshita, M.2    Fukushima, K.3    Yoshida, K.4    Ikeda, S.5
  • 6
    • 84976462471 scopus 로고    scopus 로고
    • CSF1R-related hereditary diffuse leukoencephalopathy with spheroids
    • In: Pagon RA, Adam MP, Ardinger HH, eds. Seattle, WA: University of Washington
    • Sundal C, Wszolek Z. CSF1R-related hereditary diffuse leukoencephalopathy with spheroids. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews(R). Seattle, WA: University of Washington, 2012: 1993-2014.
    • (2012) GeneReviews(R) , pp. 1993-2014
    • Sundal, C.1    Wszolek, Z.2
  • 7
    • 84881480250 scopus 로고    scopus 로고
    • A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids
    • Ahmed R, Guerreiro R, Rohrer JD, et al. A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. J Neurol Sci 2013; 332: 141-144.
    • (2013) J Neurol Sci , vol.332 , pp. 141-144
    • Ahmed, R.1    Guerreiro, R.2    Rohrer, J.D.3
  • 8
    • 84898881816 scopus 로고    scopus 로고
    • Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene
    • Battisti C, Di Donato I, Bianchi S, et al. Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene. J Neurol 2014; 261: 768-772.
    • (2014) J Neurol , vol.261 , pp. 768-772
    • Battisti, C.1    Di Donato, I.2    Bianchi, S.3
  • 9
    • 84887469798 scopus 로고    scopus 로고
    • A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis
    • Inui T, Kawarai T, Fujita K, et al. A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. J Neurol Sci 2013; 334: 192-195.
    • (2013) J Neurol Sci , vol.334 , pp. 192-195
    • Inui, T.1    Kawarai, T.2    Fujita, K.3
  • 10
    • 84888134497 scopus 로고    scopus 로고
    • Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids
    • Terasawa Y, Osaki Y, Kawarai T, et al. Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids. J Neurol Sci 2013; 335: 213-215.
    • (2013) J Neurol Sci , vol.335 , pp. 213-215
    • Terasawa, Y.1    Osaki, Y.2    Kawarai, T.3
  • 11
    • 84892428109 scopus 로고    scopus 로고
    • De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)
    • Karle KN, Biskup S, Schule R, et al. De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Neurology 2013; 81: 2039-2044.
    • (2013) Neurology , vol.81 , pp. 2039-2044
    • Karle, K.N.1    Biskup, S.2    Schule, R.3
  • 12
    • 84880281745 scopus 로고    scopus 로고
    • Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene
    • Guerreiro R, Kara E, Le Ber I, et al. Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol 2013; 70: 875-882.
    • (2013) JAMA Neurol , vol.70 , pp. 875-882
    • Guerreiro, R.1    Kara, E.2    Le Ber, I.3
  • 13
    • 84883323521 scopus 로고    scopus 로고
    • A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis
    • Saitoh BY, Yamasaki R, Hayashi S, et al. A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis. Mult Scler 2013; 19: 1367-1370.
    • (2013) Mult Scler , vol.19 , pp. 1367-1370
    • Saitoh, B.Y.1    Yamasaki, R.2    Hayashi, S.3
  • 14
    • 84857038050 scopus 로고    scopus 로고
    • Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity
    • Sundal C, Lash J, Aasly J, et al. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. J Neurol Sci 2012; 314: 130-137.
    • (2012) J Neurol Sci , vol.314 , pp. 130-137
    • Sundal, C.1    Lash, J.2    Aasly, J.3
  • 16
    • 79952501096 scopus 로고    scopus 로고
    • Diagnostic criteria for multiple sclerosis: 2010 revisions to the McDonald criteria
    • Polman CH, Reingold SC, Banwell B, et al. Diagnostic criteria for multiple sclerosis: 2010 revisions to the McDonald criteria. Ann Neurol 2011; 69: 292-302.
    • (2011) Ann Neurol , vol.69 , pp. 292-302
    • Polman, C.H.1    Reingold, S.C.2    Banwell, B.3
  • 17
    • 84866127047 scopus 로고    scopus 로고
    • MRI characteristics and scoring in HDLS due to CSF1R gene mutations
    • Sundal C, Van Gerpen JA, Nicholson AM, et al. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 2012; 79: 566-574.
    • (2012) Neurology , vol.79 , pp. 566-574
    • Sundal, C.1    Van Gerpen, J.A.2    Nicholson, A.M.3
  • 18
    • 84857528669 scopus 로고    scopus 로고
    • A representative cohort of patients with non-progressive multiple sclerosis at the age of normal life expectancy
    • Skoog B, Runmarker B, Winblad S, Ekholm S, Andersen O. A representative cohort of patients with non-progressive multiple sclerosis at the age of normal life expectancy. Brain 2012; 135: 900-911.
    • (2012) Brain , vol.135 , pp. 900-911
    • Skoog, B.1    Runmarker, B.2    Winblad, S.3    Ekholm, S.4    Andersen, O.5
  • 19
    • 84890036481 scopus 로고    scopus 로고
    • Decoding multiple sclerosis: an update on genomics and future directions
    • Oksenberg JR. Decoding multiple sclerosis: an update on genomics and future directions. Expert Rev Neurother 2013; 13: 11-19.
    • (2013) Expert Rev Neurother , vol.13 , pp. 11-19
    • Oksenberg, J.R.1
  • 20
    • 84887058596 scopus 로고    scopus 로고
    • Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
    • Beecham AH, Patsopoulos NA, Xifara DK, et al. Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet 2013; 45: 1353-1360.
    • (2013) Nat Genet , vol.45 , pp. 1353-1360
    • Beecham, A.H.1    Patsopoulos, N.A.2    Xifara, D.K.3
  • 22
    • 79955582720 scopus 로고    scopus 로고
    • Multiple sclerosis as a neurodegenerative disease: pathology, mechanisms and therapeutic implications
    • Stadelmann C. Multiple sclerosis as a neurodegenerative disease: pathology, mechanisms and therapeutic implications. Curr Opin Neurol 2011; 24: 224-229.
    • (2011) Curr Opin Neurol , vol.24 , pp. 224-229
    • Stadelmann, C.1
  • 23
    • 84884507439 scopus 로고    scopus 로고
    • Microglia: multiple roles in surveillance, circuit shaping, and response to injury
    • Benarroch EE. Microglia: multiple roles in surveillance, circuit shaping, and response to injury. Neurology 2013; 81: 1079-1088.
    • (2013) Neurology , vol.81 , pp. 1079-1088
    • Benarroch, E.E.1
  • 24
    • 70449359683 scopus 로고    scopus 로고
    • CSF biomarkers: pinpointing Alzheimer pathogenesis
    • Mattsson N, Blennow K, Zetterberg H. CSF biomarkers: pinpointing Alzheimer pathogenesis. Ann N Y Acad Sci 2009; 1180: 28-35.
    • (2009) Ann N Y Acad Sci , vol.1180 , pp. 28-35
    • Mattsson, N.1    Blennow, K.2    Zetterberg, H.3
  • 25
    • 79960956148 scopus 로고    scopus 로고
    • Biomarker-based dissection of neurodegenerative diseases
    • Olsson B, Zetterberg H, Hampel H, Blennow K. Biomarker-based dissection of neurodegenerative diseases. Prog Neurobiol 2011; 95: 520-534.
    • (2011) Prog Neurobiol , vol.95 , pp. 520-534
    • Olsson, B.1    Zetterberg, H.2    Hampel, H.3    Blennow, K.4
  • 27
    • 73749088374 scopus 로고    scopus 로고
    • Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults
    • Kohlschutter A, Bley A, Brockmann K, et al. Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults. Brain Dev 2010; 32: 82-89.
    • (2010) Brain Dev , vol.32 , pp. 82-89
    • Kohlschutter, A.1    Bley, A.2    Brockmann, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.