Canavan disease: clinical features
Evidence-based neurology checklist on canavan disease: clinical features: Genetics and pathology This is caused by mutations in the aspartoacylase (ASPA) gene The mutation causes accumulation of N-acetylaspartate (NAA) in the brain The transmission is autosomal recessive Developmental features…
Genetics and pathology
- This is caused by mutations in the aspartoacylase (ASPA) gene
- The mutation causes accumulation of N-acetylaspartate (NAA) in the brain
- The transmission is autosomal recessive
Developmental features
Neurological features
Ophthalmic features
References
- Gordon N. Canavan disease: a review of recent developments. Eur J Paediatr Neurol 2001; 5:65-69.
- Leone P, Shera D, McPhee SW, et al. Long-term follow-up after gene therapy for canavan disease. Sci Transl Med 2012; 4:165ra163.
- 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.
- Bley A, Denecke J, Kohlschütter A, et al. The natural history of Canavan disease: 23 new cases and comparison with patients from literature. Orphanet J Rare Dis 2021; 16:227.
- Çakar NE, Aksu Uzunhan T. A case of juvenile Canavan disease with distinct pons involvement. Brain Dev 2020; 42:222-225.
- And 1 more. Subscribe to see the full list
