Canavan disease: management

Evidence-based neurology checklist on canavan disease: management: Investigations N-acetylaspartate levels Magnetic resonance imaging (MRI) Proton magnetic resonance spectroscopy (MRS) DNA analysis Treatment

Investigations

  • N-acetylaspartate levels
  • Magnetic resonance imaging (MRI)
  • Proton magnetic resonance spectroscopy (MRS)
  • DNA analysis

Treatment

References

  1. Gordon N. Canavan disease: a review of recent developments. Eur J Paediatr Neurol 2001; 5:65-69. 
  2. Leone P, Shera D, McPhee SW, et al. Long-term follow-up after gene therapy for canavan disease. Sci Transl Med 2012; 4:165ra163.
  3. Surendran S, Michals-Matalon K, Quast MJ, et al. Canavan disease: a monogenic trait with complex genomic interaction. Mol Genet Metab 2003; 80:74-80.
  4. Çakar NE, Aksu Uzunhan T. A case of juvenile Canavan disease with distinct pons involvement. Brain Dev 2020; 42:222-225. 
  5. Jauhari P, Saini L, Chakrabarty B, Kumar A, Gulati S. Juvenile Canavan disease: a leukodystrophy without white matter changes. Neuropediatrics 2018; 49:420-421.

Related checklists

Loading...