Who discovered Canavan syndrome?

The disease is named for Myrtelle Canavan who first described the disorder in 1931. She was one of the first female pathologists and is best known for her description of Canavan. In 1993 Dr. Rueben Matalon discovered the gene that causes Canavan from tissues provided by several Canavan families.

Why is there no cure for Canavan disease?

The mutation inactivates an enzyme that is needed to break down the amino acid NAA. NAA then builds up in the brain, where it destroys the brain’s white matter. Currently, there is no therapy for children with Canavan disease.

How common is Canavan?

While this condition occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the Ashkenazi Jewish population.

What is Canavan disease disorder?

Definition. Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies.

What is the history of Canavan disease?

History of Canavan The disease is named for Myrtelle Canavan who first described the disorder in 1931. She was one of the first female pathologists and is best known for her description of Canavan. In 1993 Dr. Rueben Matalon discovered the gene that causes Canavan from tissues provided by several Canavan families.

Is Canavan disease fatal?

Canavan disease is a progressive, fatal, genetic disorder affecting the central nervous system , muscles, and eyes. Early symptoms in infancy may include increased head size, weakness, low muscle tone and loss of head control.

What parts of the body does Canavan disease affect?

How was Canavan disease discovered?

In 1993 Dr. Rueben Matalon discovered the gene that causes Canavan from tissues provided by several Canavan families. This discovery led to carrier screening and prenatal testing for the disease.

How is Canavan disease inherited?

Canavan disease is caused by disruptions or changes (mutations) to the aspartoacylase (ASPA) gene. This mutation is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

What are other names for Canavan disease?

Other names for Canavan disease

  • ASPA deficiency.
  • Aspartoacylase deficiency.
  • Canavan-van Bogaert-Bertrand disease.
  • Spongy degeneration of the central nervous system.

What is the mode of inheritance for Canavan disease?

Can the Canavan disease be passed down?

Canavan disease is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene .

What causes Canavan disease?

Canavan disease. Canavan disease is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain, and is one of the most common degenerative cerebral diseases of infancy. It is caused by a deficiency of the enzyme aminoacylase 2, and is one of a group of genetic diseases referred to as leukodystrophies.

How is Canavan disease treated?

Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive.[2][3] Management may include provision of adequate nutrition and hydration, treatment of infectious diseases, and protection of the airway.

Is Canavan disease dominant or ressesive?

Canavan disease is inherited in an autosomal recessive pattern. [4] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.

Is Canavan disease caused by a mutation?

Canavan disease is caused by disruptions or changes (mutations) to the aspartoacylase (ASPA) gene. This mutation is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.