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Volumn 18, Issue 6, 1998, Pages 471-481

Spongy degeneration of the brain, Canavan disease: Biochemical and molecular findings

Author keywords

Aspartoacylase; Canavan disease; Macrocephaly; N acetylaspartic acid; Review; Spongy degeneration of the brain

Indexed keywords

ACETAZOLAMIDE; ACETIC ACID; AMIDASE; AMINO ACID; ASPARTIC ACID; COMPLEMENTARY DNA; DNA; N ACETYLASPARTIC ACID;

EID: 84867105643     PISSN: 15227952     EISSN: None     Source Type: Journal    
DOI: 10.1080/152279598405625     Document Type: Article
Times cited : (1)

References (49)
  • 1
    • 0141872257 scopus 로고
    • Schilder's encephalitis periaxialis diffusa
    • Canavan MM. Schilder's encephalitis periaxialis diffusa. Arch Neurol Psychiatr 1931;25:299-308.
    • (1931) Arch Neurol Psychiatr , vol.25 , pp. 299-308
    • Canavan, M.M.1
  • 2
    • 84944478563 scopus 로고
    • Progressive degenerative subcortical encephalopathy (Schilder's disease)
    • Globus JH, Strauss I. Progressive degenerative subcortical encephalopathy (Schilder's disease). Arch Neurol Psychiatr 1928;20:1190-1228.
    • (1928) Arch Neurol Psychiatr , vol.20 , pp. 1190-1228
    • Globus, J.H.1    Strauss, I.2
  • 3
    • 0009599035 scopus 로고
    • Sur une idiote familiale avec degenerescence spongieuse de neuraxe (note preliminaire)
    • van Bogaert L, Bertrand I. Sur une idiote familiale avec degenerescence spongieuse de neuraxe (note preliminaire). Acta Neurol Belg 1949;12:572-587.
    • (1949) Acta Neurol Belg , vol.12 , pp. 572-587
    • Van Bogaert, L.1    Bertrand, I.2
  • 6
    • 0027362434 scopus 로고
    • Human aspartoacylase cDNA and mis-sense mutation in Canavan disease
    • Kaul RK, Gao GP, Balamurugan K, Matalon R. Human aspartoacylase cDNA and mis-sense mutation in Canavan disease. Nature Genetics 1993;5:118-123.
    • (1993) Nature Genetics , vol.5 , pp. 118-123
    • Kaul, R.K.1    Gao, G.P.2    Balamurugan, K.3    Matalon, R.4
  • 8
  • 9
    • 0013801447 scopus 로고
    • Studies on the function of N-acetylaspartic acid in the brain
    • McIntosh JM, Cooper JR. Studies on the function of N-acetylaspartic acid in the brain. J Neurochem. 1965;12:825.
    • (1965) J Neurochem , vol.12 , pp. 825
    • McIntosh, J.M.1    Cooper, J.R.2
  • 10
    • 0023100113 scopus 로고
    • Neurochemical and immunochemical studies on the distribution of N-acetylaspartylglutamate and N-acetyl-aspartate in rat spinal cord and some peripheral nervous tissues
    • Ory-Lavolle L, Blakely RD, Coyle JT. Neurochemical and immunochemical studies on the distribution of N-acetylaspartylglutamate and N-acetyl-aspartate in rat spinal cord and some peripheral nervous tissues. J Neurochem 1987;48:895-899.
    • (1987) J Neurochem , vol.48 , pp. 895-899
    • Ory-Lavolle, L.1    Blakely, R.D.2    Coyle, J.T.3
  • 11
    • 0026077618 scopus 로고
    • The role of N-acetylaspartic acid in brain metabolism and the pathogenesis in Canavan disease
    • Kaul R, Michals K, Casanova J, Matalon R. The role of N-acetylaspartic acid in brain metabolism and the pathogenesis in Canavan disease. Intl Pediatrics 1991;6:0-43.
    • (1991) Intl Pediatrics , vol.6 , pp. 0-43
    • Kaul, R.1    Michals, K.2    Casanova, J.3    Matalon, R.4
  • 12
    • 0032899289 scopus 로고    scopus 로고
    • Molecular water pumps and the aetiology of Canavan disease: A case of the sorcerer's apprentice
    • Baslow MH. Molecular water pumps and the aetiology of Canavan disease: A case of the sorcerer's apprentice. J Inher Metab Dis. 1999;99-101.
    • (1999) J Inher Metab Dis , pp. 99-101
    • Baslow, M.H.1
  • 13
    • 0015257189 scopus 로고
    • Electron microscopic and enzyme histochemical studies of the cerebellum in spongy degeneration (van Bogaert and Bertrand type)
    • Adachi M, Torii J, Schneck L, Volk BW: Electron microscopic and enzyme histochemical studies of the cerebellum in spongy degeneration (van Bogaert and Bertrand type). Acta Neuropath 1972;20:22-31.
    • (1972) Acta Neuropath , vol.20 , pp. 22-31
    • Adachi, M.1    Torii, J.2    Schneck, L.3    Volk, B.W.4
  • 14
    • 0015292217 scopus 로고
    • Cerebral spongy degeneration of infancy: A biochemical and ultrastructural study of affected twins
    • Adornato BT, O'Brien JS, Lampert PW, Roe TF, Neustein HB. Cerebral spongy degeneration of infancy: a biochemical and ultrastructural study of affected twins. Neurology 1972;22:202-210.
    • (1972) Neurology , vol.22 , pp. 202-210
    • Adornato, B.T.1    O'Brien, J.S.2    Lampert, P.W.3    Roe, T.F.4    Neustein, H.B.5
  • 16
    • 0021355551 scopus 로고
    • Spongy degeneration of the CNS in infancy
    • Luo Y, Huang K. Spongy degeneration of the CNS in infancy. Arch Neurol 1984;41:164-170.
    • (1984) Arch Neurol , vol.41 , pp. 164-170
    • Luo, Y.1    Huang, K.2
  • 19
    • 0025552740 scopus 로고
    • Spongy degeneration of the brain, Canavan disease
    • Matalon R, Michals K, Kaul R, Mafee M. Spongy degeneration of the brain, Canavan disease. Int Pediatr 1990;5:121-124.
    • (1990) Int Pediatr , vol.5 , pp. 121-124
    • Matalon, R.1    Michals, K.2    Kaul, R.3    Mafee, M.4
  • 20
    • 0025166746 scopus 로고
    • In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan disease) by proton spectroscopy
    • Grodd W, Krageloh-Mann I, Peterson D, Trcfz FK, Harzer K. In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan disease) by proton spectroscopy Lancet 1990;336:437-438.
    • (1990) Lancet , vol.336 , pp. 437-438
    • Grodd, W.1    Krageloh-Mann, I.2    Peterson, D.3    Trcfz, F.K.4    Harzer, K.5
  • 21
    • 0030280604 scopus 로고    scopus 로고
    • Quantitative measurements with localized IH MR spectroscopy in children with Canavan's disease
    • Wittsack HJ, Kugel H, Roth B, Heindel W. Quantitative measurements with localized IH MR spectroscopy in children with Canavan's disease J Magn Reson Imaging 1996;6:889-893.
    • (1996) J Magn Reson Imaging , vol.6 , pp. 889-893
    • Wittsack, H.J.1    Kugel, H.2    Roth, B.3    Heindel, W.4
  • 22
    • 0029831021 scopus 로고    scopus 로고
    • Clinical and Magnetic Resonance Imaging Features of L-2-Hydroxyglutaric Acidemia: Report of Three Cases in Comparison to Canavan Disease
    • Topcu M, Erde G, Saatci I, Aktan G, Simsek A, Renda Y, Schutgens RB, Wanders RJ, Jacobs C. Clinical and Magnetic Resonance Imaging Features of L-2-Hydroxyglutaric Acidemia: Report of Three Cases in Comparison to Canavan Disease. J Child Neurol 1996;373-377.
    • (1996) J Child Neurol , pp. 373-377
    • Topcu, M.1    Erde, G.2    Saatci, I.3    Aktan, G.4    Simsek, A.5    Renda, Y.6    Schutgens, R.B.7    Wanders, R.J.8    Jacobs, C.9
  • 23
    • 0029823879 scopus 로고    scopus 로고
    • Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases
    • Goutieres F, Boullouche JJ, Bourgeois M, Aicardi J. Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases. J Child Neuro 1996;11:439-444.
    • (1996) J Child Neuro , vol.11 , pp. 439-444
    • Goutieres, F.1    Boullouche, J.J.2    Bourgeois, M.3    Aicardi, J.4
  • 24
    • 0029973244 scopus 로고    scopus 로고
    • Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course
    • van der Knapp MS, Barth PG, Vrensen GF, Valk J. Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathol 1996;92:206-212.
    • (1996) Acta Neuropathol , vol.92 , pp. 206-212
    • Van Der Knapp, M.S.1    Barth, P.G.2    Vrensen, G.F.3    Valk, J.4
  • 25
    • 0030753901 scopus 로고    scopus 로고
    • Cystic leukoencephalopathy in a megalencephalic child: Clinical and magnetic resonance imaging/magnetic resonance spectroscopy findings
    • Mejaski-Bosnjak V, Besenski N, Brockmann K, Pouwels PJ, Frahm J, Hanefeld FA. Cystic leukoencephalopathy in a megalencephalic child: Clinical and magnetic resonance imaging/magnetic resonance spectroscopy findings. Pediatr. Neurol. 1997;16:347-350.
    • (1997) Pediatr. Neurol. , vol.16 , pp. 347-350
    • Mejaski-Bosnjak, V.1    Besenski, N.2    Brockmann, K.3    Pouwels, P.J.4    Frahm, J.5    Hanefeld, F.A.6
  • 26
    • 0344281838 scopus 로고
    • Spongy degeneration of the central nervous system, case of homocystinuria
    • Chou SM, Waisman HA. Spongy degeneration of the central nervous system, case of homocystinuria. Arch Pathol 1965;70:357-363.
    • (1965) Arch Pathol , vol.70 , pp. 357-363
    • Chou, S.M.1    Waisman, H.A.2
  • 27
    • 0014304434 scopus 로고
    • Spongy degeneration of the white matter of the central nervous system associated with hyperglycinuria
    • Rushton DI. Spongy degeneration of the white matter of the central nervous system associated with hyperglycinuria J Clin Pathol 1966;21:456-462.
    • (1966) J Clin Pathol , vol.21 , pp. 456-462
    • Rushton, D.I.1
  • 28
    • 0019483889 scopus 로고
    • CT findings in a case of deficiency of 3-hydroxy-3methylglutaryl CoA lyase
    • Lisson G, Leupold DD, Bechinger C, Wallesch: CT findings in a case of deficiency of 3-hydroxy-3methylglutaryl CoA lyase. Neuroradiology 1981;22:99-101.
    • (1981) Neuroradiology , vol.22 , pp. 99-101
    • Lisson, G.1    Leupold, D.D.2    Bechinger, C.3    Wallesch4
  • 29
    • 0020001396 scopus 로고
    • Molecular pathological aspects in spongy encephalopathies
    • Walters GF. Molecular pathological aspects in spongy encephalopathies. Wien Klin Wochenschr 1982;94:375-376.
    • (1982) Wien Klin Wochenschr , vol.94 , pp. 375-376
    • Walters, G.F.1
  • 30
    • 0020369604 scopus 로고
    • Mitochondrial cytopathy or Leigh's syndrome? Mitochondrial abnormalities in spongiform encephalopathies
    • Egger J, Wayne-Williams CJ, Erdohazi M. Mitochondrial cytopathy or Leigh's syndrome? Mitochondrial abnormalities in spongiform encephalopathies. Neuropediatrics 1992;13:219-224.
    • (1992) Neuropediatrics , vol.13 , pp. 219-224
    • Egger, J.1    Wayne-Williams, C.J.2    Erdohazi, M.3
  • 32
    • 0028178607 scopus 로고
    • Canavan disease: Genomic organization and localization of human ASPA gene during evolution
    • Kaul RK, Balamurugan K, Gao GP, Matalon R: Canavan disease: Genomic organization and localization of human ASPA gene during evolution Genomics 1994;21:364-370.
    • (1994) Genomics , vol.21 , pp. 364-370
    • Kaul, R.K.1    Balamurugan, K.2    Gao, G.P.3    Matalon, R.4
  • 34
    • 0141732469 scopus 로고
    • Carrier rate of Canavan disease among Ashkenazi Jewish individuals
    • Matalon R, Kaul R, Michals. Carrier rate of Canavan disease among Ashkenazi Jewish individuals. Am J Hum Genet 1994;55:A908.
    • (1994) Am J Hum Genet , vol.55
    • Matalon, R.1    Kaul, R.2    Michals3
  • 35
    • 0028881717 scopus 로고
    • Prevalence of Canavan disease heteroxygotes in the New York metropolitan Ashkenazi Jewish population
    • Kronn D, Oddoux C, Phillips J, Ostrer H. Prevalence of Canavan disease heteroxygotes in the New York metropolitan Ashkenazi Jewish population. Am J Hum Genet 1995;57:1250-1252.
    • (1995) Am J Hum Genet , vol.57 , pp. 1250-1252
    • Kronn, D.1    Oddoux, C.2    Phillips, J.3    Ostrer, H.4
  • 38
    • 0028960923 scopus 로고
    • A novel (cys152 > arg) missense mutation in Arab patient with Canavan disease
    • Kaul R, Gao GP, Michals K, Whelan DT, Levin S, Matalon R. A novel (cys152 > arg) missense mutation in Arab patient with Canavan disease. Hum Mutat 1995;5:269-271.
    • (1995) Hum Mutat , vol.5 , pp. 269-271
    • Kaul, R.1    Gao, G.P.2    Michals, K.3    Whelan, D.T.4    Levin, S.5    Matalon, R.6
  • 40
    • 0032968640 scopus 로고    scopus 로고
    • The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients
    • Elpeleg ON, Shaag A. The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients J Inner Metab Dis 1999;22:531-534.
    • (1999) J Inner Metab Dis , vol.22 , pp. 531-534
    • Elpeleg, O.N.1    Shaag, A.2
  • 43
    • 0030009495 scopus 로고    scopus 로고
    • Gene Therapy in New Zealand
    • During M. Gene Therapy in New Zealand. Science 1996;272:467.
    • (1996) Science , vol.272 , pp. 467
    • During, M.1
  • 48
    • 0027487217 scopus 로고
    • Prenatal diagnosis of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid
    • Kelley RI. Prenatal diagnosis of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid. J Inher Metab Dis 1993;16:918-919.
    • (1993) J Inher Metab Dis , vol.16 , pp. 918-919
    • Kelley, R.I.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.