Canavan Disease (CD)

Canavan Disease (CD) is indeed a neurodegenerative disorder with a spectrum ranging from severe forms characterized by leukodystrophy, macrocephaly, and profound developmental delay, to a rare mild or juvenile form with milder developmental delay. CD is caused by mutations in the ASPA gene, which encodes the aspartoacylase enzyme. These mutations result in either low or absent enzymatic activity.

This figure shows the location of Canavan Disease within the brain. Different colors represent various brain regions according to their labels, while the points indicate areas with a potential presence of Canavan Disease.

Symptom

Symptoms of Canavan Disease (CD) can vary depending on the severity and form of the condition. In the severe forms, symptoms may include:

• Developmental Delay: Delayed acquisition of developmental milestones such as sitting, crawling, and walking.
• Hypotonia: Reduced muscle tone leading to floppiness or weakness.
• Macrocephaly: Abnormally large head size compared to typical growth charts.
• Leukodystrophy: Degeneration of the white matter in the brain, leading to impaired neurological function.
• Seizures: Episodes of abnormal electrical activity in the brain that can cause convulsions or loss of consciousness.

In the milder or juvenile form of CD, symptoms may be less pronounced and may include mild developmental delays or learning difficulties.