Neurological Disorders: Canavan Disease


Canavan Disease is a type of leukodystrophy. A leukodystrophy affects the white matter of the brain and spinal cord (mainly the myelin tissue). Myelin in the peripheral nerves may be affected too.

A large head (macrocephaly or mgalencephaly) is an important feature of this disease.

Please click on Leukodystrophy for a detailed article on white matter diseases.

What causes this disease?

It is a genetic disease and a mutation on chromosome 17 causes it. The gene mutation causes deficiency of an enzyme by name aspartoacylase and this in turn causes imperfect development of myelin tissue.

This disease is common in Ashkenazi Jews.


The different tests that may be employed to diagnose this progressive neurological disorder include MRI of the brain, genetic test, enzyme assay etc.


As usual to all leukodystrophies there is no cure available for this disease yet. So the management mostly includes supportive & symptomatic therapy.

A neurologist (paediatric and/or adult) is frequently involved in the management of canavan-disease patients.

Canavan Disease to Neurology Articles


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