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Tay-Sachs, Canavan and related diseases

Canavan Causes

Cause

Canavan disease is caused by the absence of a vital enzyme called aspartoacylase (ASPA). ASPA breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin. Myelin is a fatty membrane (also known as white matter) that forms a proactive coating around each nerve ensuring the nerve functions properly.

Gene Location

The gene that causes Tay-Sachs is located on chromosome 17, specifically 17pter-p13.

Inheritance

Canavan is an autosomal recessive genetic disorder. Both parents must be a carrier for children to be at risk. If both parents are carriers, there is a 25% chance with each pregnancy the child will be affected.

Read more About Inheritance

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

 

 

 

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