Canavan disease which also carries the name of Canavan-Van Bogaert-Bertrand Disease is a disorder of the autosomal recessive type, which results in an injury to the nerve cells which are in the brain. This disease is quite a common form of cerebral diseases found in infants. It belongs to the group of genetic disorders, which are termed as leukodystrophy. Leukodystrophies are distinguished by disintegration of the myelin present in the phospholipid layer whose function is to protect the axon of the neuron. The chromosome 17 of the human body carries the gene which is responsible for this disorder.
Pathophysiology of Canavan Disease or Canavan-Van Bogaert-Bertrand Disease
This disease is also said to be inherited. If both the mother and father are said to be carriers then there is approximately 20% chance of the child being affected with this disease, because of which genetic counseling is advised for couples who are potential carriers of this defective gene.
Canavan disease is the result of a defect in the ASPA gene whose function is to produce enzyme called aspartoacylase. If the production of aspartoacylase is reduced, it hinders the division or separation of N-acetyl aspartate, which then starts to accumulate and starts interfering with the development of myelin sheath in the brain and thus there is a defect in the transmission of the nerve impulses to the brain.
Signs and Symptoms of Canavan Disease or Canavan-Van Bogaert-Bertrand Disease
The symptoms of this disease start during infancy and is said to progress very quickly. The main symptoms are mental retardation, regression of motor skills, problems with feeding, and impaired head control etc. Seizures, paralysis, or blindness may also present themselves in some cases.
Treatment of Canavan Disease or Canavan-Van Bogaert-Bertrand Disease
As of now, there is no known treatment for this disease. Treatment is generally palliative and supportive. Researchers are working on a treatment which is in the experimental stage with lithium citrate. This treatment worked in an animal model but when tested on a patient the patient went back to the original state after stopping lithium citrate but it may be used in children affected with Canavan disease as a supportive measure. Gene therapy is also being worked upon where a gene which is healthy is made to take over the diseased one and it has shown to improve the quality of life in children affected with this disease.
Prognosis of Canavan Disease or Canavan-Van Bogaert-Bertrand Disease
Death with this disease generally occurs before the child is of age 5, but there have been some cases of children with mild form of disease surviving till their teens.
- National Institute of Neurological Disorders and Stroke (NINDS) – Canavan Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Canavan-Disease-Information-Page
- Genetics Home Reference – Canavan Disease https://ghr.nlm.nih.gov/condition/canavan-disease
- Orphanet – Canavan Disease https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141
- Journal of Neurology, Neurosurgery & Psychiatry – Canavan disease: diagnosis and treatment https://jnnp.bmj.com/content/75/suppl_1/i2
- GeneReviews – Canavan Disease https://www.ncbi.nlm.nih.gov/books/NBK1239/