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Volumn 24, Issue 5, 2014, Pages 444-452

Different stages of white matter changes in the original HDLS family revealed by advanced MRI techniques

Author keywords

Autosomal dominant inheritance; DTI; Hereditary leukoencephalopathy with spheroids (HDLS); MRI; MRS; White matter lesions

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANCER PATIENT; CASE REPORT; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; FRACTIONAL ANISOTROPY; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH SPHEROID; HUMAN; LEUKOENCEPHALOPATHY; MALE; MIDDLE AGED; MUSCLE TONE; NERVE FIBER DEGENERATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PROSPECTIVE STUDY; SWEDISH CITIZEN; WHITE MATTER; ALGORITHM; BRAIN; COMPUTER ASSISTED DIAGNOSIS; DIFFUSION TENSOR IMAGING; IMAGE ENHANCEMENT; PATHOLOGY; PROCEDURES; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY;

EID: 84908541973     PISSN: 10512284     EISSN: 15526569     Source Type: Journal    
DOI: 10.1111/jon.12037     Document Type: Article
Times cited : (15)

References (38)
  • 2
    • 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
  • 3
    • 0031569802 scopus 로고    scopus 로고
    • Long tract degeneration in familial sudanophilic leukodystrophy with prominent spheroids
    • Yazawa I, Nakano I, Yamada H, et al. Long tract degeneration in familial sudanophilic leukodystrophy with prominent spheroids. J Neurol Sci 1997;147:185-191.
    • (1997) J Neurol Sci , vol.147 , pp. 185-191
    • Yazawa, I.1    Nakano, I.2    Yamada, H.3
  • 4
    • 0034711661 scopus 로고    scopus 로고
    • Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids
    • van der Knaap MS, Naidu S, Kleinschmidt-Demasters BK, et al. Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids. Neurology 2000;54:463-468.
    • (2000) Neurology , vol.54 , pp. 463-468
    • van der Knaap, M.S.1    Naidu, S.2    Kleinschmidt-Demasters, B.K.3
  • 5
    • 0141852213 scopus 로고    scopus 로고
    • Hereditary diffuse leucoencephalopathy with spheroids
    • Hancock N, Poon M, Taylor B, et al. Hereditary diffuse leucoencephalopathy with spheroids. J Neurol Neurosurg Psychiatry 2003;74:1345-1347.
    • (2003) J Neurol Neurosurg Psychiatry , vol.74 , pp. 1345-1347
    • Hancock, N.1    Poon, M.2    Taylor, B.3
  • 6
    • 2942676610 scopus 로고    scopus 로고
    • Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature
    • Marotti JD, Tobias S, Fratkin JD, et al. Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature. Acta Neuropathol 2004;107:481-488.
    • (2004) Acta Neuropathol , vol.107 , pp. 481-488
    • Marotti, J.D.1    Tobias, S.2    Fratkin, J.D.3
  • 7
    • 8844255467 scopus 로고    scopus 로고
    • An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease
    • Terada S, Ishizu H, Yokota O, et al. An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease. Acta Neuropathol 2004;108:538-545.
    • (2004) Acta Neuropathol , vol.108 , pp. 538-545
    • Terada, S.1    Ishizu, H.2    Yokota, O.3
  • 8
    • 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 (Berl) 2006;111:300-311.
    • (2006) Acta Neuropathol (Berl) , vol.111 , pp. 300-311
    • Baba, Y.1    Ghetti, B.2    Baker, M.C.3
  • 9
    • 29544451186 scopus 로고    scopus 로고
    • Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics
    • Itoh K, Shiga K, Shimizu K, et al. Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics. Acta Neuropathol 2006;111:39-45.
    • (2006) Acta Neuropathol , vol.111 , pp. 39-45
    • Itoh, K.1    Shiga, K.2    Shimizu, K.3
  • 10
    • 54049156548 scopus 로고    scopus 로고
    • Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids
    • Van Gerpen JA, Wider C, Broderick DF, et al. Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. Neurology 2008;71:925-929.
    • (2008) Neurology , vol.71 , pp. 925-929
    • Van Gerpen, J.A.1    Wider, C.2    Broderick, D.F.3
  • 11
    • 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
  • 12
    • 77956679933 scopus 로고    scopus 로고
    • Adult-onset leukodystrophy with axonal spheroids
    • Mendes A, Pinto M, Vieira S, et al. Adult-onset leukodystrophy with axonal spheroids. J Neurol Sci 2010;297:40-45.
    • (2010) J Neurol Sci , vol.297 , pp. 40-45
    • Mendes, A.1    Pinto, M.2    Vieira, S.3
  • 13
    • 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
  • 14
    • 0141792751 scopus 로고    scopus 로고
    • Late-onset neuroaxonal leucoencephalopathy with spheroids and vascular amyloid
    • Browne L, Sweeney BJ, Farrell MA. Late-onset neuroaxonal leucoencephalopathy with spheroids and vascular amyloid. Eur Neurol 2003;50:85-90.
    • (2003) Eur Neurol , vol.50 , pp. 85-90
    • Browne, L.1    Sweeney, B.J.2    Farrell, M.A.3
  • 15
    • 3042835568 scopus 로고    scopus 로고
    • Leucoencephalopathy with neuroaxonal spheroids (LENAS) presenting as the cerebellar subtype of multiple system atrophy
    • Moro-de-Casillas ML, Cohen ML, Riley DE. Leucoencephalopathy with neuroaxonal spheroids (LENAS) presenting as the cerebellar subtype of multiple system atrophy. J Neurol Neurosurg Psychiatry 2004;75:1070-1072.
    • (2004) J Neurol Neurosurg Psychiatry , vol.75 , pp. 1070-1072
    • Moro-de-Casillas, M.L.1    Cohen, M.L.2    Riley, D.E.3
  • 16
    • 33750599425 scopus 로고    scopus 로고
    • CT and MR imaging of neuroaxonal leukodystrophy presenting as early-onset frontal dementia
    • Mascalchi M, Gavazzi C, Morbin M, et al. CT and MR imaging of neuroaxonal leukodystrophy presenting as early-onset frontal dementia. AJNR Am J Neuroradiol 2006;27:1037-1039.
    • (2006) AJNR Am J Neuroradiol , vol.27 , pp. 1037-1039
    • Mascalchi, M.1    Gavazzi, C.2    Morbin, M.3
  • 17
    • 36149001713 scopus 로고    scopus 로고
    • Two cases of LENAS: diagnosis by MRI and biopsy
    • Mayer B, Oelschlaeger C, Keyvani K, et al. Two cases of LENAS: diagnosis by MRI and biopsy. J Neurol 2007;254:1453-1454.
    • (2007) J Neurol , vol.254 , pp. 1453-1454
    • Mayer, B.1    Oelschlaeger, C.2    Keyvani, K.3
  • 18
    • 41549090044 scopus 로고    scopus 로고
    • Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS
    • Keegan BM, Giannini C, Parisi JE, et al. Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS. Neurology 2008;70:1128-1133.
    • (2008) Neurology , vol.70 , pp. 1128-1133
    • Keegan, B.M.1    Giannini, C.2    Parisi, J.E.3
  • 19
    • 46149083243 scopus 로고    scopus 로고
    • Leukoencephalopathy with neuroaxonal spheroids presenting as frontotemporal dementia
    • Levin N, Soffer D, Biran I, et al. Leukoencephalopathy with neuroaxonal spheroids presenting as frontotemporal dementia. Isr Med Assoc J 2008;10:386-387.
    • (2008) Isr Med Assoc J , vol.10 , pp. 386-387
    • Levin, N.1    Soffer, D.2    Biran, I.3
  • 20
    • 70349652243 scopus 로고    scopus 로고
    • Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids
    • Maillart E, Rousseau A, Galanaud D, et al. Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids. J Neurol 2009;256:1649-1654.
    • (2009) J Neurol , vol.256 , pp. 1649-1654
    • Maillart, E.1    Rousseau, A.2    Galanaud, D.3
  • 21
    • 77953692294 scopus 로고    scopus 로고
    • Sporadic leucodystrophy with neuroaxonal spheroids. Persistence of DWI changes and neurocognitive profiles: a case study
    • Mateen FJ, Keegan BM, Krecke K, et al. Sporadic leucodystrophy with neuroaxonal spheroids. Persistence of DWI changes and neurocognitive profiles: a case study. J Neurol Neurosurg Psychiatry 2010;81:619-622.
    • (2010) J Neurol Neurosurg Psychiatry , vol.81 , pp. 619-622
    • Mateen, F.J.1    Keegan, B.M.2    Krecke, K.3
  • 22
    • 77649174491 scopus 로고    scopus 로고
    • Neurological picture. Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: novel imaging findings
    • Boisse L, Islam O, Woulfe J, et al. Neurological picture. Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: novel imaging findings. J Neurol Neurosurg Psychiatry 2010;81:313-314.
    • (2010) J Neurol Neurosurg Psychiatry , vol.81 , pp. 313-314
    • Boisse, L.1    Islam, O.2    Woulfe, J.3
  • 23
    • 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
  • 24
    • 34447321322 scopus 로고    scopus 로고
    • A comparative morphologic analysis of adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia-a role for oxidative damage
    • Ali ZS, Van Der Voorn JP, Powers JM. A comparative morphologic analysis of adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia-a role for oxidative damage. J Neuropathol Exp Neurol 2007;66:660-672.
    • (2007) J Neuropathol Exp Neurol , vol.66 , pp. 660-672
    • Ali, Z.S.1    Van Der Voorn, J.P.2    Powers, J.M.3
  • 25
    • 67650066957 scopus 로고    scopus 로고
    • Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity
    • Wider C, Van Gerpen JA, DeArmond S, et al. Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? Neurology 2009;72:1953-1959.
    • (2009) Neurology , vol.72 , pp. 1953-1959
    • Wider, C.1    Van Gerpen, J.A.2    DeArmond, S.3
  • 26
    • 77951144101 scopus 로고    scopus 로고
    • White matter disorders with autosomal dominant heredity: a review with personal clinical case studies and their MRI findings
    • Sundal C, Ekholm S, Andersen O. White matter disorders with autosomal dominant heredity: a review with personal clinical case studies and their MRI findings. Acta Neurol Scand 2010;121:328-337.
    • (2010) Acta Neurol Scand , vol.121 , pp. 328-337
    • Sundal, C.1    Ekholm, S.2    Andersen, O.3
  • 27
    • 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
  • 28
    • 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
  • 29
    • 0035080580 scopus 로고    scopus 로고
    • Diffusion tensor imaging: concepts and applications
    • Le Bihan D, Mangin JF, Poupon C, et al. Diffusion tensor imaging: concepts and applications. J Magn Reson Imaging 2001;13:534-546.
    • (2001) J Magn Reson Imaging , vol.13 , pp. 534-546
    • Le Bihan, D.1    Mangin, J.F.2    Poupon, C.3
  • 30
    • 0344983758 scopus 로고    scopus 로고
    • Diffusion tensor imaging detects and differentiates axon and myelin degeneration in mouse optic nerve after retinal ischemia
    • Song SK, Sun SW, Ju WK, et al. Diffusion tensor imaging detects and differentiates axon and myelin degeneration in mouse optic nerve after retinal ischemia. Neuroimage 2003;20:1714-1722.
    • (2003) Neuroimage , vol.20 , pp. 1714-1722
    • Song, S.K.1    Sun, S.W.2    Ju, W.K.3
  • 31
    • 18044380678 scopus 로고    scopus 로고
    • Demyelination increases radial diffusivity in corpus callosum of mouse brain
    • Song SK, Yoshino J, Le TQ, et al. Demyelination increases radial diffusivity in corpus callosum of mouse brain. Neuroimage 2005;26:132-140.
    • (2005) Neuroimage , vol.26 , pp. 132-140
    • Song, S.K.1    Yoshino, J.2    Le, T.Q.3
  • 33
    • 78650677308 scopus 로고    scopus 로고
    • Defective glial maturation in vanishing white matter disease
    • Bugiani M, Boor I, van Kollenburg B, et al. Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol 2011;70:69-82.
    • (2011) J Neuropathol Exp Neurol , vol.70 , pp. 69-82
    • Bugiani, M.1    Boor, I.2    van Kollenburg, B.3
  • 35
    • 65649127236 scopus 로고    scopus 로고
    • Central nervous system imaging in mitochondrial disorders
    • Finsterer J. Central nervous system imaging in mitochondrial disorders. Can J Neurol Sci 2009;36:143-153.
    • (2009) Can J Neurol Sci , vol.36 , pp. 143-153
    • Finsterer, J.1
  • 36
    • 84863782373 scopus 로고    scopus 로고
    • Leukoencephalopathies in mitochondrial disorders: clinical and MRI findings
    • Finsterer J, Zarrouk Mahjoub S. Leukoencephalopathies in mitochondrial disorders: clinical and MRI findings. J Neuroimaging 2012;22:e1-e11.
    • (2012) J Neuroimaging , vol.22 , pp. e1-e11
    • Finsterer, J.1    Zarrouk Mahjoub, S.2
  • 37
    • 30444456368 scopus 로고    scopus 로고
    • Diffusion-weighted imaging of acute excitotoxic brain injury
    • Moritani T, Smoker WR, Sato Y, et al. Diffusion-weighted imaging of acute excitotoxic brain injury. AJNR Am J Neuroradiol 2005;26:216-228.
    • (2005) AJNR Am J Neuroradiol , vol.26 , pp. 216-228
    • Moritani, T.1    Smoker, W.R.2    Sato, Y.3
  • 38
    • 78751501874 scopus 로고    scopus 로고
    • Genetically induced adult oligodendrocyte cell death is associated with poor myelin clearance, reduced remyelination, and axonal damage
    • Pohl HB, Porcheri C, Mueggler T, et al. Genetically induced adult oligodendrocyte cell death is associated with poor myelin clearance, reduced remyelination, and axonal damage. J Neurosci 2011;31:1069-1080.
    • (2011) J Neurosci , vol.31 , pp. 1069-1080
    • Pohl, H.B.1    Porcheri, C.2    Mueggler, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.