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Tay-Sachs, Canavan, GM1 and Sandhoff diseases

Diagnosis of Canavan

How is Canavan Diagnosed?

Canavan disease is diagnosed through a combination of biochemical and DNA tests. Increased amounts of N-acetylaspartic acid (NAA) is found in the urine. Profound deficiency of aspartoacylase is found in cultured skin fibroblasts. Known disease-causing mutations are frequently found through DNA testing. Occasionally, known mutations are not found suggesting novel (or unknown) mutations.

Road to Diagnosis

Often an MRI or CT showing signs of decreased myelination leads to the Canavan diagnosis.

Who is at risk?

Anyone can be a carrier of Canavan.  When both parents are carriers each child has a 25% of having the disease. The carrier rate for the general population is 1/300. Ashkenazi Jews are at high risk with a carrier rate of 1/40.

Talk to your doctor about genetic counseling to discuss your options before starting your family.

Canavan Review Article

Canavan disease was first described in 1931, and this review traces the progress made in the past 8 decades to understand the disease by enumerating current hypotheses and ongoing palliative measures to alleviate patient symptoms in the context of the latest advances in the field.

Read article: Making the White Matter Matters: Progress in Understanding Canavan’s Disease and Therapeutic Interventions Through Eight Decades, Seemin S. Ahmed • Guangping Gao