Skip to main content

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 509.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 649.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References and Further Reading

  • Adachi M, Wallace BJ, Schneck L, Volk BW. Fine structure of spongy degeneration of the central nervous system (van Bogaert and Betrand type). J Neuropathol Exp Neurol 1966; 25: 598–616

    CAS  PubMed  Google Scholar 

  • Adachi M, Volk BW. Protracted form of spongy degeneration of the central nervous system. Neurology 1968; 18: 1084–1092

    CAS  PubMed  Google Scholar 

  • Adachi M, Torii J, Schneck L, Volk BW. Electron microscopic and enzyme histochemical studies of the cerebellum in spongy degeneration. Acta Neuropathol (Berl) 1972; 20: 22–31

    Article  CAS  PubMed  Google Scholar 

  • Adachi M, Schneck L, Cara J, Volk BW. Spongy degeneration of the central nervous system (Van Bogaert and Bertrand type; Canavan’s disease). Hum Pathol 1973; 4: 331–347

    CAS  PubMed  Google Scholar 

  • Austin SJ, Connelly A, Gadian DG, Benton JS, Brett EM. Localized 1H NMR spectroscopy in Canavan’s disease: a report of two cases. Magn Reson Med 1991; 19: 439–445

    CAS  PubMed  Google Scholar 

  • Banker BQ, Robertson JT, Victor M. Spongy degeneration of the central nervous system in infancy. Neurology 1964; 14: 981–1001

    CAS  PubMed  Google Scholar 

  • Barker PB, Bryan RN, Kumar AJ, Naidu S. Proton NMR spectroscopy of Canavan’s disease. Neuropediatrics 1992; 23: 263–267

    CAS  PubMed  Google Scholar 

  • Baslow MH. Molecular water pumps and the aetiology of Canavan’s disease: a case of sorcerer’s apprentice. J Inherit Metab Dis 1999; 22: 99–101

    Article  CAS  PubMed  Google Scholar 

  • Baslow MH. Canavan’s spongiform leukodystrophy. A clinical anatomy of a genetic metabolic CNS disease. J Mol Neurosci 2000; 15: 61–69

    CAS  PubMed  Google Scholar 

  • Baslow MH. Evidence supporting a role for N-acetyl-L-aspartate as a molecular water pump in myelinated neurons in the central nervous system. An analytical review. Neurochem Int 2002; 40: 295–300

    Article  CAS  PubMed  Google Scholar 

  • Baslow MH. Brain N-acetylaspartate as a molecular water pump and its role in the etiology of Canavan disease. J Mol Neurosci 2003; 21: 185–189

    CAS  PubMed  Google Scholar 

  • Baslow MH, Resnik TR. Canavan Disease. Analysis of the nature of the metabolic lesions responsible for development of the observed clinical symptoms. J Mol Neurosci 1997; 9: 109–125

    CAS  PubMed  Google Scholar 

  • Baslow MH, Suckow RF, Sapirstein V, Hungund BL. Expression of aspartoacylase activity in cultured rat macroglial cells is limited to oligodendrocytes. J Mol Neurosci 1999; 13: 47–53

    CAS  PubMed  Google Scholar 

  • Bennett MJ, Gibson KM, Sherwood WG, Divry P, Rolland MO, Elpeleg ON, Rinaldo P, Jakobs C. Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis. J Inherit Metab Dis 1993; 16: 831–836

    CAS  PubMed  Google Scholar 

  • Besley GTN, Elpeleg ON, Shaag A, Manning NJ, Jakobs C, Walter JH. Prenatal diagnosis of Canavan disease. Problems and dilemmas. J Inherit Metab Dis 1999; 22: 263–366

    CAS  PubMed  Google Scholar 

  • Brismar J, Brismar G, Gascon G, Ozand P. Canavan disease: CT and MR imaging of the brain. AJNR Am J Neuroradiol 1990; 11: 805–810

    CAS  PubMed  Google Scholar 

  • Brown LW, Rorke LB, Deray MJ, Smith SB, Altman N. Psychomotor retardation and macrocephaly in an infant. Pediatr Neurosci 1985–1986; 12: 266–271

    PubMed  Google Scholar 

  • Burlina AP, Ferrari V, Divry P, Gradowska W, Jakobs C, Bennett MJ, Sewell AC, Dionisi-Vici C, Burlina AB. N-Acetylaspartylglutamate in Canavan disease: an adverse effector? Eur J Pediatr 1999; 158: 406–409

    Article  CAS  PubMed  Google Scholar 

  • De Coo IFM, Gabreëls FJM, Renier WO, de Pont JJHHM, Hälst UJGM, Veerkamp JH, Trijbels JMF, Jaspar HHJ, Renkawek. Canavan disease: neuromorphological and biochemical analysis of a brain biopsy specimen. Clin Neuropathol 1991; 10: 73–78

    PubMed  Google Scholar 

  • Echenne B, Divry P, Vianey-Liaud C. Spongy degeneration of the neuraxis (Canavan-Van Bogaert disease) and N-acetylaspartic aciduria. Neuropediatrics 1989; 20: 70–81

    Google Scholar 

  • Engelbrecht V, Scherer A, Rassek M, Witsack HJ, Mödder U. Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with white matter diseases. Radiology 2002; 222: 410–418

    PubMed  Google Scholar 

  • Gascon GG, Ozand PT, Mahdi A, Jamil A, Haider A, Brismar J, Al-Nasser M. Infantile CNS spongy degeneration-14 cases: clinical update. Neurology 1990; 40: 1876–1882

    CAS  PubMed  Google Scholar 

  • Gordon N. Canavan disease: a review of recent developments. Eur J Paediatr Neurol 2000; 5: 65–69

    Google Scholar 

  • Grod W, Krägeloh-Mann I, Petersen D, Trefz FK, Harzer K. In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan’s disease) by proton spectroscopy. Lancet 1990; 336: 437–438

    Google Scholar 

  • Hagenfeldt L, Bollgren I, Venizelos N. N-Acetylaspartic aciduria due to aspartoacylase deficiency — a new aetiology of childhood leucodystrophy. J Inherit Metab Dis 1987; 10: 135–141

    Article  CAS  PubMed  Google Scholar 

  • Hamaguchi H, Nihei K, Nakamoto N, Ezoe T, Naito H, Hara M, Yokota K, Inoue Y, Matsumoto I. A case of Canavan disease: the first biochemically proven case in a Japanese girl. Brain Dev 1993; 15: 367–371

    Article  CAS  PubMed  Google Scholar 

  • Janson C, McPhee S, Bilaniuk L, Haselgrove J, Testaiuti M, Freese A, Wang D-J, Shera D, Hurh P, Rupin J, Saslow E, Goldfarb O, Goldberg M, Larijani G, Sharrar W, Liouterman L, Camp A, Kolodny E, Samulski J, Leone P. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain. Hum Gene Ther 2002; 13: 1391–1412

    Article  CAS  PubMed  Google Scholar 

  • Kamoshita S, Rapin I, Suzuki K, Suzuki K. Spongy degeneration of the brain. Neurology 1968; 18: 975–985

    CAS  PubMed  Google Scholar 

  • Kaul R, Gao GP, Balamurugan K, Matalon R. Cloning of the human aspartoacylase cDNA and a predominant missense mutation in Canavan disease. Nat Genet 1993; 5: 118–123

    Article  CAS  PubMed  Google Scholar 

  • Kendall BE. Disorders of lysosomes, peroxisomes, and mitochondria. AJNR Am J Neuroradiol 1992; 13: 621–653.

    CAS  PubMed  Google Scholar 

  • Kirmani BF, Jocobowitz DM, Kallarakal AT, Namboodiri MAA. Aspartoacylase is restricted primarily to myelin synthesizing cells in the CNS: therapeutic implications for Canavan disease. Mol Brain Res 2002; 107: 176–183

    Article  CAS  PubMed  Google Scholar 

  • Kvittingen EA, Guldal G, Borsting S, Skalpe IO, Stokke O, Jellum E. N-acetylaspartic aciduria in a child with a progressive cerebral atrophy. Clin Chim Acta 1986; 158: 217–227

    Article  CAS  PubMed  Google Scholar 

  • Leone P, Janson CG, Bilianuk L, Wang Z, Sorgi F, Huang L, Matalon R, Kaul R, Zeng Z, Freese A, McPhee SW, Mee E, During MJ. Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease. Ann Neurol 2000; 48: 27–38

    Article  CAS  PubMed  Google Scholar 

  • Mahloudji M, Daneshbod K, Karjoo M. Familial spongy degeneration of the brain. Arch Neurol 1970; 22: 294–298

    CAS  PubMed  Google Scholar 

  • Marks HG, Caro PA, Wang Z, Detre JA, Bogdan AR, Gusnard DA, Zimmerman RA. Use of computed tomography, magnetic resonance imaging, and localized 1H magnetic resonance spectroscopy in Canavan’s disease: a case report. Ann Neurol 1991; 30: 106–110

    Article  CAS  PubMed  Google Scholar 

  • Matalon R, Michals-Matalon K. Prenatal diagnosis of Canavan disease. Prenat Diagn 1999; 19: 669–670

    Article  CAS  PubMed  Google Scholar 

  • Matalon R, Michals-Matalon K. Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings. Pediatr Pathol Mol Med 2000; 18: 471–481

    Google Scholar 

  • Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 1988; 29: 463–471

    Article  CAS  PubMed  Google Scholar 

  • Matalon R, Kaul R, Casanova J, Michals K, Johnson A, Rapin I, Gashkoff P, Deanching M. Aspartoacylase deficiency: the enzyme defect in Canavan disease. J Inherit Metab Dis 1989; 12: 329–331

    PubMed  Google Scholar 

  • Matalon R, Kaul R, Michals K. Canavan disease: biochemical and molecular studies. J Inherit Metab Dis 1993; 16: 744–752

    CAS  PubMed  Google Scholar 

  • Matalon R, Michals K, Kaul R. Canavan disease: from spongy degeneration to molecular analysis. J Pediatr 1995; 127: 511–517

    CAS  PubMed  Google Scholar 

  • Matalon R, Kaul R, Gao GP, Michals K, Gray RGF, Bennett-Briton S, Norman A, Smith M, Jakobs C. Prenatal diagnosis for canavan disease: the use of DNA markers. J Inherit Metab Dis 1995; 18: 215–217

    Article  CAS  PubMed  Google Scholar 

  • Matalon R, Rady PL, Platt KA, Skinner HB, Quast MJ, Campbell GA, Metalon K, Ceci JD, Tyring SK, Nehls M, Surendran S, Wei J, Ezell EL, Szucs S. Knock-out mouse for Canavan disease: a model for gene transfer tot the central nervous system. J Gene Med 2000; 2: 165–175

    Article  CAS  PubMed  Google Scholar 

  • Meyding-Lamadé U, Sartor K. Magnetresonanztomographie bei neurodegenerativen Erkrankungen im Kindesalter. Klin Neuroradiol 1993; 3: 52–61

    Google Scholar 

  • Toft PB, Geiß-Holtorff R, Roland MO, Pryd SO, Mueller-Forell W, Christensen E, Lehnert W, Lou HC, Ott D, Hennig J, Henriksen O. Magnetic resonance imaging in juvenile Canavan disease. Eur J Pediatr 1993; 152: 750–753

    Article  CAS  PubMed  Google Scholar 

  • Topçu M, Erdem G, Saatçi I, Aktan G, ÅžimÅŸek A A, Renda Y, Schutgens RBH, Wanders RJA, Jacobs C. Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric academia: report of three cases in comparison with Canavan disease. J Child Neurol 1996; 11: 373–377

    PubMed  Google Scholar 

  • Traeger E, Rapin I. The clinical course of Canavan disease. Pediatr Neurol 1998; 18: 207–212

    Article  CAS  PubMed  Google Scholar 

  • Van Bogaert L, Bertrand I. Les leucodystrophies progressives familiales. Rev Neurol 1933; 2: 249–286

    Google Scholar 

  • Wittsack HJ, Kugel H, Roth B, Heindel W. Quantitative measurements with localized 1H MR spectroscopy in children with Canava’s disease. J Magn Reson Imaging 1996; 6: 889–893

    CAS  PubMed  Google Scholar 

  • Zafeiriou D, Kleijer WJ, Maropoulos G, Anastasiou AL, Augoustidou-Savvopoulou P, Papadopoulou F, Kontopuolos EE, Fagan E, Payne S. Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings. Brain Dev 1999; 21: 205–208

    Article  CAS  PubMed  Google Scholar 

  • Zelnik N, Amir N, Luder AS, Hemli JA, Elpeleg ON, Fatal A, Gross-Tsur V, Harel S. Protracted clinical course for patients with Canavan disease. Dev Med Child Neurol 1993; 35: 346–358

    Google Scholar 

Download references

Rights and permissions

Reprints and permissions

Copyright information

© 2005 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

(2005). Canavan Disease. In: Magnetic Resonance of Myelination and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-27660-2_42

Download citation

  • DOI: https://doi.org/10.1007/3-540-27660-2_42

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-22286-6

  • Online ISBN: 978-3-540-27660-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics