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Volumn 32, Issue 1, 2012, Pages 85-94

Leukoencephalopathies in adulthood

Author keywords

adult onset; autosomal dominant; leukodystrophy; leukoencephalopathy

Indexed keywords

ADRENOLEUKODYSTROPHY; ADULT; ADULT ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY; ADULT POLYGLUCOSAN BODY DISEASE; ADULTHOOD; ALEXANDER DISEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN ATROPHY; CADASIL; CEREBROTENDINOUS XANTHOMATOSIS; CHILDHOOD ADRENOLEUKODYSTROPHY; CORPUS CALLOSUM; DEMYELINATING DISEASE; DIFFUSE LEUKOENCEPHALOPATHIES WITH NEUROAXONAL SPHEROID; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; GLOBOID CELL LEUKODYSTROPHY; HUMAN; LEUKOENCEPHALOPATHY; METACHROMATIC LEUKODYSTROPHY; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

EID: 84858147192     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0032-1306391     Document Type: Article
Times cited : (10)

References (125)
  • 2
    • 0017896110 scopus 로고
    • Late adult-onset metachromatic leukodystrophy. Dementia and polyneuropathy in a 63-year-old man
    • Bosch EP, Hart MN. Late adult-onset metachromatic leukodystrophy. Dementia and polyneuropathy in a 63-year-old man. Arch Neurol: 1978; 35 7 475 477 (Pubitemid 8355419)
    • (1978) Archives of Neurology , vol.35 , Issue.7 , pp. 475-477
    • Bosch, E.P.1    Hart, M.N.2
  • 4
    • 0036556486 scopus 로고    scopus 로고
    • Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: Genotype/phenotype relationships?
    • DOI 10.1016/S0928-4257(02)00019-0, PII S0928425702000190
    • Baumann N, Turpin JC, Lefevre M, Colsch B. Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships? J Physiol Paris: 2002; 96 3-4 301 306 (Pubitemid 36090368)
    • (2002) Journal of Physiology Paris , vol.96 , Issue.3-4 , pp. 301-306
    • Baumann, N.1    Turpin, J.-C.2    Lefevre, M.3    Colsch, B.4
  • 5
    • 0028957388 scopus 로고
    • Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency
    • Hageman AT, Gabrels FJ, de Jong JG., et al. Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency. Arch Neurol: 1995; 52 4 408 413
    • (1995) Arch Neurol , vol.52 , Issue.4 , pp. 408-413
    • Hageman, A.T.1    Gabrels, F.J.2    De Jong, J.G.3
  • 6
    • 77953094792 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy: A case of triplets with the late infantile variant and a systematic review of the literature
    • Mahmood A, Berry J, Wenger DA., et al. Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature. J Child Neurol: 2010; 25 5 572 580
    • (2010) J Child Neurol , vol.25 , Issue.5 , pp. 572-580
    • Mahmood, A.1    Berry, J.2    Wenger, D.A.3
  • 7
    • 0026517334 scopus 로고
    • Psychiatric disturbances in metachromatic leukodystrophy. Insights into the neurobiology of psychosis
    • Hyde TM, Ziegler JC, Weinberger DR. Psychiatric disturbances in metachromatic leukodystrophy. Insights into the neurobiology of psychosis. Arch Neurol: 1992; 49 4 401 406
    • (1992) Arch Neurol , vol.49 , Issue.4 , pp. 401-406
    • Hyde, T.M.1    Ziegler, J.C.2    Weinberger, D.R.3
  • 8
    • 0026638338 scopus 로고
    • Adult-onset metachromatic leukodystrophy presenting as isolated peripheral neuropathy
    • Fressinaud C, Vallat JM, Masson M, Jauberteau MO, Baumann N, Hugon J. Adult-onset metachromatic leukodystrophy presenting as isolated peripheral neuropathy. Neurology: 1992; 42 7 1396 1398
    • (1992) Neurology , vol.42 , Issue.7 , pp. 1396-1398
    • Fressinaud, C.1    Vallat, J.M.2    Masson, M.3    Jauberteau, M.O.4    Baumann, N.5    Hugon, J.6
  • 10
    • 0026565259 scopus 로고
    • Adult metachromatic leukodystrophy with an unusual relapsing-remitting course
    • Sadeh M, Kuritzky A, Ben-David E, Goldhammer Y. Adult metachromatic leukodystrophy with an unusual relapsing-remitting course. Postgrad Med J: 1992; 68 797 192 195
    • (1992) Postgrad Med J , vol.68 , Issue.797 , pp. 192-195
    • Sadeh, M.1    Kuritzky, A.2    Ben-David, E.3    Goldhammer, Y.4
  • 11
    • 0024500625 scopus 로고
    • Pseudodeficiency of arylsulfatase A: A common genetic polymorphism with possible disease implications
    • DOI 10.1007/BF00288270
    • Hohenschutz C, Eich P, Friedl W, Waheed A, Conzelmann E, Propping P. Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications. Hum Genet: 1989; 82 1 45 48 (Pubitemid 19116228)
    • (1989) Human Genetics , vol.82 , Issue.1 , pp. 45-48
    • Hohenschutz, C.1    Eich, P.2    Friedl, W.3    Waheed, A.4    Conzelmann, E.5    Propping, P.6
  • 13
    • 71449093485 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy: A scoring system for brain MR imaging observations
    • Eichler F, Grodd W, Grant E., et al. Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. AJNR Am J Neuroradiol: 2009; 30 10 1893 1897
    • (2009) AJNR Am J Neuroradiol , vol.30 , Issue.10 , pp. 1893-1897
    • Eichler, F.1    Grodd, W.2    Grant, E.3
  • 14
    • 80051674995 scopus 로고    scopus 로고
    • Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature
    • de Hosson LD, van de Warrenburg BP, Preijers FW., et al. Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature. Bone Marrow Transplant: 2011; 46 8 1071 1076
    • (2011) Bone Marrow Transplant , vol.46 , Issue.8 , pp. 1071-1076
    • De Hosson, L.D.1    Van De Warrenburg, B.P.2    Preijers, F.W.3
  • 15
    • 0031788301 scopus 로고    scopus 로고
    • Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leukodystrophy
    • Solders G, Celsing G, Hagenfeldt L, Ljungman P, Isberg B, Ringdn O. Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leukodystrophy. Bone Marrow Transplant: 1998; 22 11 1119 1122 (Pubitemid 28554224)
    • (1998) Bone Marrow Transplantation , vol.22 , Issue.11 , pp. 1119-1122
    • Solders, G.1    Celsing, G.2    Hagenfeldt, L.3    Ljungman, P.4    Isberg, B.5    Ringden, O.6
  • 16
    • 0036676009 scopus 로고    scopus 로고
    • Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH)
    • DOI 10.1038/sj.bmt.1703650
    • Ko ON, Day J, Nieder M, Gerson SL, Lazarus HM, Krivit W. Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). Bone Marrow Transplant: 2002; 30 4 215 222 (Pubitemid 35023593)
    • (2002) Bone Marrow Transplantation , vol.30 , Issue.4 , pp. 215-222
    • Koc, O.N.1    Day, J.2    Nieder, M.3    Gerson, S.L.4    Lazarus, H.M.5    Krivit, W.6
  • 17
    • 42449122266 scopus 로고    scopus 로고
    • Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: A case report
    • Meuleman N, Vanhaelen G, Tondreau T., et al. Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. Haematologica: 2008; 93 1 e11 e13
    • (2008) Haematologica , vol.93 , Issue.1
    • Meuleman, N.1    Vanhaelen, G.2    Tondreau, T.3
  • 18
    • 0030964590 scopus 로고    scopus 로고
    • Molecular genetics of krabbe disease (Globoid cell Leukodystrophy): Diagnostic and clinical implications
    • DOI 10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D
    • Wenger DA, Rafi MA, Luzi P. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. Hum Mutat: 1997; 10 4 268 279 (Pubitemid 27430501)
    • (1997) Human Mutation , vol.10 , Issue.4 , pp. 268-279
    • Wenger, D.A.1    Rafi, M.A.2    Luzi, P.3
  • 19
    • 34447621043 scopus 로고    scopus 로고
    • A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region
    • Lissens W, Arena A, Seneca S., et al. A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. Hum Mutat: 2007; 28 7 742
    • (2007) Hum Mutat , vol.28 , Issue.7 , pp. 742
    • Lissens, W.1    Arena, A.2    Seneca, S.3
  • 20
    • 78649549132 scopus 로고    scopus 로고
    • Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
    • Tappino B, Biancheri R, Mort M., et al. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Hum Mutat: 2010; 31 12 E1894 E1914
    • (2010) Hum Mutat , vol.31 , Issue.12
    • Tappino, B.1    Biancheri, R.2    Mort, M.3
  • 21
    • 84858748232 scopus 로고    scopus 로고
    • Krabbe leukodystrophy in a selected population with high rate of late onset forms: Longer survival linked to c.121G > A (p.Gly41Ser) mutation
    • Fiumara A, Barone R, Arena A., et al. Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G > A (p.Gly41Ser) mutation. Clin Genet: 2010
    • (2010) Clin Genet
    • Fiumara, A.1    Barone, R.2    Arena, A.3
  • 22
    • 0029984498 scopus 로고    scopus 로고
    • Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease)
    • Barone R, Brühl K, Stoeter P, Fiumara A, Pavone L, Beck M. Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease). Am J Med Genet: 1996; 63 1 209 217
    • (1996) Am J Med Genet , vol.63 , Issue.1 , pp. 209-217
    • Barone, R.1    Brühl, K.2    Stoeter, P.3    Fiumara, A.4    Pavone, L.5    Beck, M.6
  • 23
    • 34548482529 scopus 로고    scopus 로고
    • The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease
    • DOI 10.1111/j.1600-0404.2007.00867.x
    • Wang C, Melberg A, Weis J, Mnsson JE, Raininko R. The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease. Acta Neurol Scand: 2007; 116 4 268 272 (Pubitemid 47373479)
    • (2007) Acta Neurologica Scandinavica , vol.116 , Issue.4 , pp. 268-272
    • Wang, C.1    Melberg, A.2    Weis, J.3    Mansson, J.-E.4    Raininko, R.5
  • 24
    • 0033832486 scopus 로고    scopus 로고
    • MR imaging and proton MR spectroscopy in adult Krabbe disease
    • Farina L, Bizzi A, Finocchiaro G., et al. MR imaging and proton MR spectroscopy in adult Krabbe disease. AJNR Am J Neuroradiol: 2000; 21 8 1478 1482
    • (2000) AJNR Am J Neuroradiol , vol.21 , Issue.8 , pp. 1478-1482
    • Farina, L.1    Bizzi, A.2    Finocchiaro, G.3
  • 25
    • 0036236499 scopus 로고    scopus 로고
    • Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging
    • DOI 10.1136/jnnp.72.5.635
    • Bajaj NP, Waldman A, Orrell R, Wood NW, Bhatia KP. Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging. J Neurol Neurosurg Psychiatry: 2002; 72 5 635 638 (Pubitemid 34462819)
    • (2002) Journal of Neurology Neurosurgery and Psychiatry , vol.72 , Issue.5 , pp. 635-638
    • Bajaj, N.P.S.1    Waldman, A.2    Orrell, R.3    Wood, N.W.4    Bhatia, K.P.5
  • 27
    • 77953216242 scopus 로고    scopus 로고
    • General aspects and neuropathology of X-linked adrenoleukodystrophy
    • Ferrer I, Aubourg P, Pujol A. General aspects and neuropathology of X-linked adrenoleukodystrophy. Brain Pathol: 2010; 20 4 817 830
    • (2010) Brain Pathol , vol.20 , Issue.4 , pp. 817-830
    • Ferrer, I.1    Aubourg, P.2    Pujol, A.3
  • 28
    • 77953191945 scopus 로고    scopus 로고
    • Pathomechanisms underlying X-adrenoleukodystrophy: A three-hit hypothesis
    • Singh I, Pujol A. Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis. Brain Pathol: 2010; 20 4 838 844
    • (2010) Brain Pathol , vol.20 , Issue.4 , pp. 838-844
    • Singh, I.1    Pujol, A.2
  • 29
    • 0030860131 scopus 로고    scopus 로고
    • Adrenoleukodystrophy: Phenotype, genetics, pathogenesis and therapy
    • DOI 10.1093/brain/120.8.1485
    • Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain: 1997; 120 Pt 8 1485 1508 (Pubitemid 27344713)
    • (1997) Brain , vol.120 , Issue.8 , pp. 1485-1508
    • Moser, H.W.1
  • 30
    • 74149091311 scopus 로고    scopus 로고
    • Efferent and afferent evoked potentials in patients with adrenomyeloneuropathy
    • Matsumoto H, Hanajima R, Terao Y., et al. Efferent and afferent evoked potentials in patients with adrenomyeloneuropathy. Clin Neurol Neurosurg: 2010; 112 2 131 136
    • (2010) Clin Neurol Neurosurg , vol.112 , Issue.2 , pp. 131-136
    • Matsumoto, H.1    Hanajima, R.2    Terao, Y.3
  • 32
    • 34249081252 scopus 로고    scopus 로고
    • Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy
    • DOI 10.1001/archneur.64.5.659
    • Eichler F, Mahmood A, Loes D., et al. Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. Arch Neurol: 2007; 64 5 659 664 (Pubitemid 46789832)
    • (2007) Archives of Neurology , vol.64 , Issue.5 , pp. 659-664
    • Eichler, F.1    Mahmood, A.2    Loes, D.3    Bezman, L.4    Lin, D.5    Moser, H.W.6    Raymond, G.V.7
  • 34
    • 0035138765 scopus 로고    scopus 로고
    • Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy
    • DOI 10.1002/1531-8249(20010201)49:2<186::AID-ANA38>3.0.CO;2-R
    • van Geel BM, Bezman L, Loes DJ, Moser HW, Raymond GV. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy. Ann Neurol: 2001; 49 2 186 194 (Pubitemid 32157994)
    • (2001) Annals of Neurology , vol.49 , Issue.2 , pp. 186-194
    • Van Geel, B.M.1    Bezman, L.2    Loes, D.J.3    Moser, H.W.4    Raymond, G.V.5
  • 37
    • 19944432371 scopus 로고    scopus 로고
    • Spectroscopic evidence of cerebral axonopathy in patients with "pureo" adrenomyeloneuropathy
    • Dubey P, Fatemi A, Barker PB., et al. Spectroscopic evidence of cerebral axonopathy in patients with "pureo" adrenomyeloneuropathy. Neurology: 2005; 64 2 304 310
    • (2005) Neurology , vol.64 , Issue.2 , pp. 304-310
    • Dubey, P.1    Fatemi, A.2    Barker, P.B.3
  • 38
    • 0032932397 scopus 로고    scopus 로고
    • Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
    • DOI 10.1002/1531-8249(199901)45:1<100::AID-ART16>3.0.CO;2-U
    • Moser AB, Kreiter N, Bezman L., et al. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol: 1999; 45 1 100 110 (Pubitemid 29036438)
    • (1999) Annals of Neurology , vol.45 , Issue.1 , pp. 100-110
    • Moser, A.B.1    Kreiter, N.2    Bezman, L.3    Lu, S.4    Raymond, G.V.5    Naidu, S.6    Moser, H.W.7
  • 39
    • 77953209828 scopus 로고    scopus 로고
    • Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy
    • Berger J, Pujol A, Aubourg P, Forss-Petter S. Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy. Brain Pathol: 2010; 20 4 845 856
    • (2010) Brain Pathol , vol.20 , Issue.4 , pp. 845-856
    • Berger, J.1    Pujol, A.2    Aubourg, P.3    Forss-Petter, S.4
  • 40
    • 0017750160 scopus 로고
    • Hereditary multi infarct dementia. Morphological and clinical studies of a new disease
    • DOI 10.1007/BF00691704
    • Sourander P, Wlinder J. Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease. Acta Neuropathol: 1977; 39 3 247 254 (Pubitemid 8166981)
    • (1977) Acta Neuropathologica , vol.39 , Issue.3 , pp. 247-254
    • Sourander, P.1    Walinder, J.2
  • 41
    • 0017578931 scopus 로고
    • Hereditary multi-infarct dementia
    • Sourander P, Wälinder J. Hereditary multi-infarct dementia. Lancet: 1977; 1 8019 1015
    • (1977) Lancet , vol.1 , Issue.8019 , pp. 1015
    • Sourander, P.1    Wälinder, J.2
  • 42
    • 0031833058 scopus 로고    scopus 로고
    • CADASIL: A review with proposed diagnostic criteria
    • Davous P. CADASIL: a review with proposed diagnostic criteria. Eur J Neurol: 1998; 5 3 219 233 (Pubitemid 28256610)
    • (1998) European Journal of Neurology , vol.5 , Issue.3 , pp. 219-233
    • Davous, P.1
  • 44
    • 0028156770 scopus 로고
    • Summary of the proceedings of the first international workshop on CADASIL: Paris, May 19-21, 1993
    • Bousser MG, Tournier-Lasserve E. Summary of the proceedings of the First International Workshop on CADASIL, Paris, May 19-21, 1993. Stroke: 1994; 25 3 704 707 (Pubitemid 24067090)
    • (1994) Stroke , vol.25 , Issue.3 , pp. 704-707
    • Bousser, M.G.1    Tournier-Lasserve, E.2
  • 47
    • 0033036190 scopus 로고    scopus 로고
    • The natural history of CADASIL: A pooled analysis of previously published cases
    • Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Mohr JP. The natural history of CADASIL: a pooled analysis of previously published cases. Stroke: 1999; 30 6 1230 1233 (Pubitemid 29259179)
    • (1999) Stroke , vol.30 , Issue.6 , pp. 1230-1233
    • Desmond, D.W.1    Moroney, J.T.2    Lynch, T.3    Chan, S.4    Chin, S.S.5    Mohr, J.P.6
  • 49
    • 0029089247 scopus 로고
    • Clinical spectrum of CADASIL: A study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Chabriat H, Vahedi K, Iba-Zizen MT., et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet: 1995; 346 8980 934 939
    • (1995) Lancet , vol.346 , Issue.8980 , pp. 934-939
    • Chabriat, H.1    Vahedi, K.2    Iba-Zizen, M.T.3
  • 50
    • 64049098726 scopus 로고    scopus 로고
    • Apathy: A major symptom in CADASIL
    • Reyes S, Viswanathan A, Godin O., et al. Apathy: a major symptom in CADASIL. Neurology: 2009; 72 10 905 910
    • (2009) Neurology , vol.72 , Issue.10 , pp. 905-910
    • Reyes, S.1    Viswanathan, A.2    Godin, O.3
  • 53
    • 0028113875 scopus 로고
    • Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL [2]
    • Ruchoux MM, Chabriat H, Bousser MG, Baudrimont M, Tournier-Lasserve E. Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL. Stroke: 1994; 25 11 2291 2292 (Pubitemid 24338393)
    • (1994) Stroke , vol.25 , Issue.11 , pp. 2291-2292
    • Ruchoux, M.-M.1    Chabriat, H.2    Bousser, M.-G.3    Baudrimont, M.4    Tournier-Lasserve, E.5
  • 55
    • 78651095303 scopus 로고    scopus 로고
    • Review: Molecular genetics and pathology of hereditary small vessel diseases of the brain
    • Yamamoto Y, Craggs L, Baumann M, Kalimo H, Kalaria RN. Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. Neuropathol Appl Neurobiol: 2011; 37 1 94 113
    • (2011) Neuropathol Appl Neurobiol , vol.37 , Issue.1 , pp. 94-113
    • Yamamoto, Y.1    Craggs, L.2    Baumann, M.3    Kalimo, H.4    Kalaria, R.N.5
  • 56
    • 0035163913 scopus 로고    scopus 로고
    • Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease
    • DOI 10.1038/83679
    • Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet: 2001; 27 1 117 120 (Pubitemid 32044531)
    • (2001) Nature Genetics , vol.27 , Issue.1 , pp. 117-120
    • Brenner, M.1    Johnson, A.B.2    Boespflug-Tanguy, O.3    Rodriguez, D.4    Goldman, J.E.5    Messing, A.6
  • 58
    • 0014358006 scopus 로고
    • Alexander's disease in an adult. Report of a case
    • Seil FJ, Schochet SS Jr, Earle KM. Alexander's disease in an adult. Report of a case. Arch Neurol: 1968; 19 5 494 502
    • (1968) Arch Neurol , vol.19 , Issue.5 , pp. 494-502
    • Seil, F.J.1    Schochet Jr., S.S.2    Earle, K.M.3
  • 59
  • 61
    • 0042011502 scopus 로고    scopus 로고
    • Alexander disease: GFAP mutations unify young and old
    • DOI 10.1016/S1474-4422(03)00301-6
    • Messing A, Brenner M. Alexander disease: GFAP mutations unify young and old. Lancet Neurol: 2003; 2 2 75 (Pubitemid 37443325)
    • (2003) Lancet Neurology , vol.2 , Issue.2 , pp. 75
    • Messing, A.1    Brenner, M.2
  • 62
    • 50849084473 scopus 로고    scopus 로고
    • Adult-onset Alexander disease: A series of eleven unrelated cases with review of the literature
    • Pareyson D, Fancellu R, Mariotti C., et al. Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain: 2008; 131 Pt 9 2321 2331
    • (2008) Brain , vol.131 , Issue.PART 9 , pp. 2321-2331
    • Pareyson, D.1    Fancellu, R.2    Mariotti, C.3
  • 63
    • 82255182406 scopus 로고    scopus 로고
    • GFAP mutations, age at onset, and clinical subtypes in Alexander disease
    • Prust M, Wang J, Morizono H., et al. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology: 2011; 77 13 1287 1294
    • (2011) Neurology , vol.77 , Issue.13 , pp. 1287-1294
    • Prust, M.1    Wang, J.2    Morizono, H.3
  • 67
    • 0021146259 scopus 로고
    • Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis
    • Eldridge R, Anayiotos CP, Schlesinger S., et al. Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. N Engl J Med: 1984; 311 15 948 953 (Pubitemid 14002057)
    • (1984) New England Journal of Medicine , vol.311 , Issue.15 , pp. 948-953
    • Eldridge, R.1    Anayiotos, C.P.2    Schlesinger, S.3
  • 70
    • 84862507826 scopus 로고    scopus 로고
    • Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication
    • Dos Santos MM, Grond-Ginsbach C, Aksay SS., et al. Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication. J Neurol: 2011
    • (2011) J Neurol
    • Dos Santos, M.M.1    Grond-Ginsbach, C.2    Aksay, S.S.3
  • 71
    • 33748051742 scopus 로고    scopus 로고
    • MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms
    • Melberg A, Hallberg L, Kalimo H, Raininko R. MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol: 2006; 27 4 904 911 (Pubitemid 44897747)
    • (2006) American Journal of Neuroradiology , vol.27 , Issue.4 , pp. 904-911
    • Melberg, A.1    Hallberg, L.2    Kalimo, H.3    Raininko, R.4
  • 72
    • 0027930822 scopus 로고
    • Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis
    • Schwankhaus JD, Katz DA, Eldridge R, Schlesinger S, McFarland H. Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. Arch Neurol: 1994; 51 8 757 766 (Pubitemid 24242599)
    • (1994) Archives of Neurology , vol.51 , Issue.8 , pp. 757-766
    • Schwankhaus, J.D.1    Katz, D.A.2    Eldridge, R.3    Schlesinger, S.4    McFarland, H.5
  • 74
    • 79951557689 scopus 로고    scopus 로고
    • Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms
    • Schuster J, Sundblom J, Thuresson AC., et al. Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. Neurogenetics: 2011; 12 1 65 72
    • (2011) Neurogenetics , vol.12 , Issue.1 , pp. 65-72
    • Schuster, J.1    Sundblom, J.2    Thuresson, A.C.3
  • 75
    • 60049084206 scopus 로고    scopus 로고
    • MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms
    • Sundblom J, Melberg A, Kalimo H, Smits A, Raininko R. MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol: 2009; 30 2 328 335
    • (2009) AJNR Am J Neuroradiol , vol.30 , Issue.2 , pp. 328-335
    • Sundblom, J.1    Melberg, A.2    Kalimo, H.3    Smits, A.4    Raininko, R.5
  • 76
    • 55949135570 scopus 로고    scopus 로고
    • A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy
    • Meijer IA, Simoes-Lopes AA, Laurent S., et al. A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy. Arch Neurol: 2008; 65 11 1496 1501
    • (2008) Arch Neurol , vol.65 , Issue.11 , pp. 1496-1501
    • Meijer, I.A.1    Simoes-Lopes, A.A.2    Laurent, S.3
  • 81
    • 0035119149 scopus 로고    scopus 로고
    • Extensive white-matter changes in case of adult polyglucosan body disease
    • DOI 10.1007/s002340000425
    • Berkhoff M, Weis J, Schroth G, Sturzenegger M. Extensive white-matter changes in case of adult polyglucosan body disease. Neuroradiology: 2001; 43 3 234 236 (Pubitemid 32194481)
    • (2001) Neuroradiology , vol.43 , Issue.3 , pp. 234-236
    • Berkhoff, M.1    Weis, J.2    Schroth, G.3    Sturzenegger, M.4
  • 82
    • 0033662244 scopus 로고    scopus 로고
    • Probable adult polyglucosan body disease
    • Klein CM, Bosch EP, Dyck PJ. Probable adult polyglucosan body disease. Mayo Clin Proc: 2000; 75 12 1327 1331
    • (2000) Mayo Clin Proc , vol.75 , Issue.12 , pp. 1327-1331
    • Klein, C.M.1    Bosch, E.P.2    Dyck, P.J.3
  • 83
    • 41849150760 scopus 로고    scopus 로고
    • Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene
    • DOI 10.1002/mus.20916
    • Massa R, Bruno C, Martorana A, de Stefano N, van Diggelen OP, Federico A. Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. Muscle Nerve: 2008; 37 4 530 536 (Pubitemid 351501983)
    • (2008) Muscle and Nerve , vol.37 , Issue.4 , pp. 530-536
    • Massa, R.1    Bruno, C.2    Martorana, A.3    De Stefano, N.4    Van Diggelen, O.P.5    Federico, A.6
  • 84
    • 84858752052 scopus 로고
    • Adult polyglucosan body disease
    • Pagon R.A. Bird T.D. Dolan C.R. Stephens K., eds. Seattle University of Washington
    • Klein CJ. Adult polyglucosan body disease. In: Pagon RA, Bird TD, Dolan CR, Stephens K., eds. GeneReviews. Seattle University of Washington: 1993
    • (1993) GeneReviews
    • Klein, C.J.1
  • 86
    • 0025914556 scopus 로고
    • Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis
    • Cali JJ, Hsieh CL, Francke U, Russell DW. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem: 1991; 266 12 7779 7783 (Pubitemid 21906434)
    • (1991) Journal of Biological Chemistry , vol.266 , Issue.12 , pp. 7779-7783
    • Cali, J.J.1    Hsieh, C.-L.2    Francke, U.3    Russell, D.W.4
  • 87
    • 0018886395 scopus 로고
    • Cerebrotendinous xanthomatosis. A defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid
    • Oftebro H, Björkhem I, Skrede S, Schreiner A, Pederson JI. Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid. J Clin Invest: 1980; 65 6 1418 1430 (Pubitemid 10122384)
    • (1980) Journal of Clinical Investigation , vol.65 , Issue.6 , pp. 1418-1430
    • Oftebro, H.1    Bjorkhem, I.2    Skrede, S.3
  • 88
    • 0036216339 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis: A rare disease with diverse manifestations
    • Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH. Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations. Arch Neurol: 2002; 59 4 527 529 (Pubitemid 34289955)
    • (2002) Archives of Neurology , vol.59 , Issue.4 , pp. 527-529
    • Moghadasian, M.H.1    Salen, G.2    Frohlich, J.J.3    Scudamore, C.H.4
  • 89
    • 0014303558 scopus 로고
    • Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system
    • Menkes JH, Schimschock JR, Swanson PD. Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system. Arch Neurol: 1968; 19 1 47 53
    • (1968) Arch Neurol , vol.19 , Issue.1 , pp. 47-53
    • Menkes, J.H.1    Schimschock, J.R.2    Swanson, P.D.3
  • 91
    • 0141997295 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis: Clinical manifestations, diagnostic criteria, pathogenesis, and therapy
    • Federico A, Dotti MT. Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy. J Child Neurol: 2003; 18 9 633 638 (Pubitemid 37258469)
    • (2003) Journal of Child Neurology , vol.18 , Issue.9 , pp. 633-638
    • Federico, A.1    Dotti, M.T.2
  • 93
    • 0029967759 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: A case report
    • Siebner HR, Berndt S, Conrad B. Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: a case report. J Neurol Neurosurg Psychiatry: 1996; 60 5 582 585 (Pubitemid 26147904)
    • (1996) Journal of Neurology Neurosurgery and Psychiatry , vol.60 , Issue.5 , pp. 582-585
    • Siebner, H.R.1    Berndt, S.2    Conrad, B.3
  • 95
    • 0027418169 scopus 로고
    • Cerebrotendinous xanthomatosis: Pathophysiological study on bone metabolism
    • DOI 10.1016/0022-510X(93)90068-A
    • Federico A, Dotti MT, Lor F, Nuti R. Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism. J Neurol Sci: 1993; 115 1 67 70 (Pubitemid 23090187)
    • (1993) Journal of the Neurological Sciences , vol.115 , Issue.1 , pp. 67-70
    • Federico, A.1    Dotti, M.T.2    Lore, F.3    Nuti, R.4
  • 96
    • 0033693277 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis: The spectrum of imaging findings and the correlation with neuropathologic findings
    • Barkhof F, Verrips A, Wesseling P., et al. Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology: 2000; 217 3 869 876
    • (2000) Radiology , vol.217 , Issue.3 , pp. 869-876
    • Barkhof, F.1    Verrips, A.2    Wesseling, P.3
  • 97
    • 0035188015 scopus 로고    scopus 로고
    • Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis
    • De Stefano N, Dotti MT, Mortilla M, Federico A. Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain: 2001; 124 Pt 1 121 131 (Pubitemid 32055994)
    • (2001) Brain , vol.124 , Issue.1 , pp. 121-131
    • De Stefano, N.1    Dotti, M.T.2    Mortilla, M.3    Federico, A.4
  • 100
    • 0021707122 scopus 로고
    • Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
    • Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med: 1984; 311 26 1649 1652 (Pubitemid 15183994)
    • (1984) New England Journal of Medicine , vol.311 , Issue.26 , pp. 1649-1652
    • Berginer, V.M.1    Salen, G.2    Shefer, S.3
  • 101
    • 85047236638 scopus 로고
    • Treatment of cerebrotendinous xanthomatosis
    • Federico A, Dotti MT. Treatment of cerebrotendinous xanthomatosis. Neurology: 1994; 44 11 2218
    • (1994) Neurology , vol.44 , Issue.11 , pp. 2218
    • Federico, A.1    Dotti, M.T.2
  • 104
    • 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 4 300 311
    • (2006) Acta Neuropathol , vol.111 , Issue.4 , pp. 300-311
    • Baba, Y.1    Ghetti, B.2    Baker, M.C.3
  • 106
    • 41549090044 scopus 로고    scopus 로고
    • Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS
    • DOI 10.1212/01.wnl.0000304045.99153.8f
    • Keegan BM, Giannini C, Parisi JE, Lucchinetti CF, Boeve BF, Josephs KA. Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS. Neurology: 2008; 70 13 Pt 2 1128 1133 (Pubitemid 351464770)
    • (2008) Neurology , vol.70 , Issue.13 PART 2 , pp. 1128-1133
    • Keegan, B.M.1    Giannini, C.2    Parisi, J.E.3    Lucchinetti, C.F.4    Boeve, B.F.5    Josephs, K.A.6
  • 107
    • 84858748229 scopus 로고    scopus 로고
    • Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions
    • Martinez-Saez E, Shah S, Costa C., et al. Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions. Neuropathology: 2011
    • (2011) Neuropathology
    • Martinez-Saez, E.1    Shah, S.2    Costa, C.3
  • 109
    • 54049156548 scopus 로고    scopus 로고
    • Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids
    • Van Gerpen JA, Wider C, Broderick DF, Dickson DW, Brown LA, Wszolek ZK. Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. Neurology: 2008; 71 12 925 929
    • (2008) Neurology , vol.71 , Issue.12 , pp. 925-929
    • Van Gerpen, J.A.1    Wider, C.2    Broderick, D.F.3    Dickson, D.W.4    Brown, L.A.5    Wszolek, Z.K.6
  • 111
    • 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
    • DOI 10.1007/s00401-004-0847-x
    • Marotti JD, Tobias S, Fratkin JD, Powers JM, Rhodes CH. Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature. Acta Neuropathol: 2004; 107 6 481 488 (Pubitemid 38765388)
    • (2004) Acta Neuropathologica , vol.107 , Issue.6 , pp. 481-488
    • Marotti, J.D.1    Tobias, S.2    Fratkin, J.D.3    Powers, J.M.4    Rhodes, C.H.5
  • 112
    • 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 1 39 47
    • (2009) Brain Pathol , vol.19 , Issue.1 , pp. 39-47
    • Freeman, S.H.1    Hyman, B.T.2    Sims, K.B.3
  • 114
    • 11144233958 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation
    • DOI 10.1002/ana.20360
    • Berry-Kravis E, Potanos K, Weinberg D, Zhou L, Goetz CG. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol: 2005; 57 1 144 147 (Pubitemid 40053328)
    • (2005) Annals of Neurology , vol.57 , Issue.1 , pp. 144-147
    • Berry-Kravis, E.1    Potanos, K.2    Weinberg, D.3    Zhou, L.4    Goetz, C.G.5
  • 124
    • 23244441878 scopus 로고    scopus 로고
    • Magnetic resonance imaging study in older fragile X premutation male carriers
    • DOI 10.1002/ana.20542
    • Loesch DZ, Litewka L, Brotchie P, Huggins RM, Tassone F, Cook M. Magnetic resonance imaging study in older fragile X premutation male carriers. Ann Neurol: 2005; 58 2 326 330 (Pubitemid 41098892)
    • (2005) Annals of Neurology , vol.58 , Issue.2 , pp. 326-330
    • Loesch, D.Z.1    Litewka, L.2    Brotchie, P.3    Huggins, R.M.4    Tassone, F.5    Cook, M.6
  • 125
    • 33845323746 scopus 로고    scopus 로고
    • Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1
    • DOI 10.1016/S1474-4422(06)70676-7, PII S1474442206706767
    • Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol: 2007; 6 1 45 55 (Pubitemid 44880272)
    • (2007) Lancet Neurology , vol.6 , Issue.1 , pp. 45-55
    • Jacquemont, S.1    Hagerman, R.J.2    Hagerman, P.J.3    Leehey, M.A.4


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