Canavan, M. M. Schilder’s encephalitis periaxialis diffusa: report of a case of a child aged sixteen and one-half months. Arch. Neurol. Psychiatry 25, 299–308 (1931).
Leone, P. et al. Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease. Ann. Neurol. 48, 27–38 (2000).
Article CAS PubMed Google Scholar
Matalon, R., Kaul, R. & Michals, K. Canavan disease: biochemical and molecular studies. J. Inherit. Metab. Dis. 16, 744–752 (1993).
Article CAS PubMed Google Scholar
Baslow, M. H. Canavan’s spongiform leukodystrophy: a clinical anatomy of a genetic metabolic CNS disease. J. Mol. Neurosci. 15, 61–69 (2000).
Article CAS PubMed Google Scholar
Francis, J. S. et al. N-Acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase. Neurobiol. Dis. 96, 323–334 (2016).
Article CAS PubMed PubMed Central Google Scholar
Hoshino, H. & Kubota, M. Canavan disease: clinical features and recent advances in research. Pediatr. Int. 56, 477–483 (2014).
Article CAS PubMed Google Scholar
Lotun, A., Gessler, D. J. & Gao, G. Canavan disease as a model for gene therapy-mediated myelin repair. Front. Cell. Neurosci. 15, 661928 (2021).
Article CAS PubMed PubMed Central Google Scholar
Janson, C. G. et al. Mild-onset presentation of Canavan’s disease associated with novel G212A point mutation in aspartoacylase gene. Ann. Neurol. 59, 428–431 (2006).
Article CAS PubMed Google Scholar
Velinov, M., Zellers, N., Styles, J. & Wisniewski, K. Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan’s disease. Clin. Genet. 73, 288–289 (2008).
Article CAS PubMed Google Scholar
Adachi, M., Schneck, L., Cara, J. & Volk, B. W. Spongy degeneration of the central nervous system (van Bogaert and Bertrand type; Canavan’s disease). A review. Hum. Pathol. 4, 331–347 (1973).
Article CAS PubMed Google Scholar
Matalon, R. et al. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am. J. Med. Genet. 29, 463–471 (1988).
Article CAS PubMed Google Scholar
Traeger, E. C. & Rapin, I. The clinical course of Canavan disease. Pediatr. Neurol. 18, 207–212 (1998).
Article CAS PubMed Google Scholar
Bokhari, M. R., Samanta, D. & Bokhari, S. R. A. Canavan Disease (StatPearls Publishing, 2024).
Zelnik, N. et al. Protracted clinical course for patients with Canavan disease. Dev. Med Child Neurol. 35, 355–358 (1993).
Article CAS PubMed Google Scholar
Zeng, B. J. et al. Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. J. Inherit. Metab. Dis. 25, 557–570 (2002).
Article CAS PubMed Google Scholar
Janson, C. et al. Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain. Hum. Gene Ther. 13, 1391–1412 (2002).
Article CAS PubMed Google Scholar
Leone, P. et al. Long-term follow-up after gene therapy for Canavan disease. Sci. Transl. Med. 4, 165ra3 (2012).
Francis, J. S. et al. Preclinical biodistribution, tropism, and efficacy of oligotropic AAV/Olig001 in a mouse model of congenital white matter disease. Mol. Ther. Methods Clin. Dev. 20, 520–534 (2021).
Article CAS PubMed PubMed Central Google Scholar
Traka, M. et al. Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS. J. Neurosci. 28, 11537–11549 (2008).
Article CAS PubMed PubMed Central Google Scholar
Hull, V. et al. Antisense oligonucleotide reverses leukodystrophy in Canavan disease mice. Ann. Neurol. 87, 480–485 (2020).
Article CAS PubMed PubMed Central Google Scholar
Maier, H., Wang-Eckhardt, L., Hartmann, D., Gieselmann, V. & Eckhardt, M. N-Acetylaspartate synthase deficiency corrects the myelin phenotype in a Canavan disease mouse model but does not affect survival time. J. Neurosci. 35, 14501–14516 (2015).
Article CAS PubMed PubMed Central Google Scholar
Pleasure, D. et al. Pathophysiology and treatment of Canavan disease. Neurochem. Res. 45, 561–565 (2020).
Article CAS PubMed Google Scholar
McAllister, A. et al. Quantitative synthetic MRI in children: normative intracranial tissue segmentation values during development. Am. J. Neuroradiol. 38, 2364–2372 (2017).
Article CAS PubMed PubMed Central Google Scholar
Janson, C. G. et al. Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI. Neuropediatrics 37, 209–221 (2006).
Article CAS PubMed Google Scholar
Mendell, J. R. et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N. Eng. J. Med. 377, 1713–1722 (2017).
Whitley, C. B. et al. Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB. Mol. Genet. Metab. 126, 131–138 (2019).
Article CAS PubMed Google Scholar
Jakobs, C. et al. Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease. J. Inherit. Metab. Dis. 14, 653–660 (1991).
Article CAS PubMed Google Scholar
Kolodziejczyk, K., Hamilton, N. B., Wade, A., Káradóttir, R. & Attwell, D. The effect of N-acetyl-aspartyl-glutamate and N-acetyl-aspartate on white matter oligodendrocytes. Brain 132, 1496–1508 (2009).
Article PubMed PubMed Central Google Scholar
Corti, M. et al. Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation. Mol. Ther. Methods Clin. Dev. 30, 303–314 (2023).
Article CAS PubMed PubMed Central Google Scholar
Bley, A. et al. The natural history of Canavan disease: 23 new cases and comparison with patients from literature. Orphanet J. Rare Dis. 16, 227 (2021).
Article PubMed PubMed Central Google Scholar
Janson, C. G., Romanova, L. G., Rudser, K. D. & Haines, S. J. Improvement in clinical outcomes following optimal targeting of brain ventricular catheters with intraoperative imaging. J. Neurosurg. 120, 684–696 (2014).
Comments (0)