메뉴 건너뛰기




Volumn 23, Issue 4, 2016, Pages 817-822

Hereditary diffuse leukoencephalopathy with spheroids - a volumetric and radiological comparison with multiple sclerosis patients and healthy controls

Author keywords

CSF1R; Hereditary diffuse leukoencephalopathy with spheroids; MRI; Multiple sclerosis; Volumetry

Indexed keywords

COLONY STIMULATING FACTOR RECEPTOR;

EID: 84954289637     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/ene.12948     Document Type: Article
Times cited : (21)

References (27)
  • 2
    • 33645766057 scopus 로고    scopus 로고
    • Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred
    • Baba Y, Ghetti B, Baker MC, et al. Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol 2006; 111: 300-311.
    • (2006) Acta Neuropathol , vol.111 , pp. 300-311
    • Baba, Y.1    Ghetti, B.2    Baker, M.C.3
  • 3
    • 57449115006 scopus 로고    scopus 로고
    • Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations
    • Freeman SH, Hyman BT, Sims KB, et al. Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. Brain Pathol 2009; 19: 39-47.
    • (2009) Brain Pathol , vol.19 , pp. 39-47
    • Freeman, S.H.1    Hyman, B.T.2    Sims, K.B.3
  • 4
    • 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 2012; 44: 200-205.
    • (2012) Nat Genet , vol.44 , pp. 200-205
    • Rademakers, R.1    Baker, M.2    Nicholson, A.M.3
  • 5
    • 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 2013; 70: 875-882.
    • (2013) JAMA , vol.70 , pp. 875-882
    • Guerreiro, R.1    Kara, E.2    Le Ber, I.3
  • 6
    • 0036058595 scopus 로고    scopus 로고
    • Neuroaxonal leukoencephalopathy with axonal spheroids
    • Yamashita M, Yamamoto T. Neuroaxonal leukoencephalopathy with axonal spheroids. Eur Neurol 2002; 48: 20-25.
    • (2002) Eur Neurol , vol.48 , pp. 20-25
    • Yamashita, M.1    Yamamoto, T.2
  • 8
    • 84892428109 scopus 로고    scopus 로고
    • De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)
    • Karle KN, Biskup S, Schüle 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    Schüle, R.3
  • 9
    • 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
  • 10
    • 84895734840 scopus 로고    scopus 로고
    • Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS
    • Konno T, Tada M, Tada M, et al. Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. Neurology 2014; 82: 139-148.
    • (2014) Neurology , vol.82 , pp. 139-148
    • Konno, T.1    Tada, M.2    Tada, M.3
  • 11
    • 84920582792 scopus 로고    scopus 로고
    • Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis
    • Sundal C, Baker M, Karrenbauer V, et al. Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. Eur J Neurol 2015; 22: 328-333.
    • (2015) Eur J Neurol , vol.22 , pp. 328-333
    • Sundal, C.1    Baker, M.2    Karrenbauer, V.3
  • 12
    • 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
  • 15
    • 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
  • 16
    • 84922002836 scopus 로고    scopus 로고
    • Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)
    • Bender B, Klose U, Lindig T, et al. Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). J Neurol 2014; 261: 2351-2359.
    • (2014) J Neurol , vol.261 , pp. 2351-2359
    • Bender, B.1    Klose, U.2    Lindig, T.3
  • 17
    • 0021035886 scopus 로고
    • Rating neurologic impairment in multiple sclerosis: an Expanded Disability Status Scale (EDSS)
    • Kurtzke JF. Rating neurologic impairment in multiple sclerosis: an Expanded Disability Status Scale (EDSS). Neurology 1983; 33: 1444.
    • (1983) Neurology , vol.33 , pp. 1444
    • Kurtzke, J.F.1
  • 18
    • 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
  • 19
    • 84861414424 scopus 로고    scopus 로고
    • Within-subject template estimation for unbiased longitudinal image analysis
    • Reuter M, Schmansky NJ, Rosas HD, Fischl B. Within-subject template estimation for unbiased longitudinal image analysis. NeuroImage 2012; 61: 1402-1418.
    • (2012) NeuroImage , vol.61 , pp. 1402-1418
    • Reuter, M.1    Schmansky, N.J.2    Rosas, H.D.3    Fischl, B.4
  • 21
    • 84855223725 scopus 로고    scopus 로고
    • An automated tool for detection of FLAIR-hyperintense white-matter lesions in multiple sclerosis
    • Schmidt P, Gaser C, Arsic M, et al. An automated tool for detection of FLAIR-hyperintense white-matter lesions in multiple sclerosis. NeuroImage 2012; 59: 3774-3783.
    • (2012) NeuroImage , vol.59 , pp. 3774-3783
    • Schmidt, P.1    Gaser, C.2    Arsic, M.3
  • 22
    • 84961945798 scopus 로고
    • Controlling the false discovery rate: a practical and powerful approach to multiple testing
    • Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc 1995; 57: 289-300.
    • (1995) J R Stat Soc , vol.57 , pp. 289-300
    • Benjamini, Y.1    Hochberg, Y.2
  • 23
    • 85027953558 scopus 로고    scopus 로고
    • Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)
    • Hoffmann S, Murrell J, Harms L, et al. Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Brain Pathol 2014; 24: 452-458.
    • (2014) Brain Pathol , vol.24 , pp. 452-458
    • Hoffmann, S.1    Murrell, J.2    Harms, L.3
  • 24
    • 84915789045 scopus 로고    scopus 로고
    • Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids
    • Riku Y, Ando T, Goto Y, et al. Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids. J Neuropathol Exp Neurol 2014; 73: 1183-1190.
    • (2014) J Neuropathol Exp Neurol , vol.73 , pp. 1183-1190
    • Riku, Y.1    Ando, T.2    Goto, Y.3
  • 25
    • 84891650712 scopus 로고    scopus 로고
    • Corpus callosum atrophy in patients with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: an MRI-based study
    • Kinoshita M, Kondo Y, Yoshida K, et al. Corpus callosum atrophy in patients with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: an MRI-based study. Intern Med 2014; 53: 21-27.
    • (2014) Intern Med , vol.53 , pp. 21-27
    • Kinoshita, M.1    Kondo, Y.2    Yoshida, K.3
  • 26
    • 84985995983 scopus 로고    scopus 로고
    • Corpus callosum atrophy is strongly associated with cognitive impairment in multiple sclerosis: results of a 17-year longitudinal study
    • Granberg T, Martola J, Bergendal G, et al. Corpus callosum atrophy is strongly associated with cognitive impairment in multiple sclerosis: results of a 17-year longitudinal study. Mult Scler 2008; 21: 1151-1158.
    • (2008) Mult Scler , vol.21 , pp. 1151-1158
    • Granberg, T.1    Martola, J.2    Bergendal, G.3
  • 27
    • 50049104744 scopus 로고    scopus 로고
    • MRI in multiple sclerosis: current status and future prospects
    • Bakshi R, Thompson AJ, Rocca MA, et al. MRI in multiple sclerosis: current status and future prospects. Lancet Neurol 2008; 7: 615-625.
    • (2008) Lancet Neurol , vol.7 , pp. 615-625
    • Bakshi, R.1    Thompson, A.J.2    Rocca, M.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.