A rare inherited neurological disorder and type of leukodystrophy caused by variants in the ASPA gene. These variants disrupt the breakdown of N-acetylaspartate (NAA), which can damage myelin and interfere with normal nerve signaling in the brain.¹¹

Damage or loss of myelin, the protective covering that surrounds nerve fibers. When myelin is damaged, nerve signals may slow down or fail to transmit properly.³

A type of protein that helps speed up chemical reactions in the body. Enzymes play an essential role in many biological processes, including metabolism.⁴

A term commonly used to describe decreased muscle tone. Infants with floppiness may feel unusually loose or weak when held and may have difficulty controlling head and body movements.²

A segment of DNA that contains instructions for making proteins or other molecules needed for the body to function. Changes or variants in genes can affect how these proteins work.⁴

A series of chemical reactions in cells that convert molecules from one form to another. Each step in the pathway is typically controlled by a specific enzyme.⁴

A chemical compound found in the brain and central nervous system and frequently measured in the urine. NAA levels are elevated in patients with Canavan disease and may prevent the proper formation of myelin.¹

Specialized cells in the nervous system that send and receive signals throughout the body. Neurons allow the brain and spinal cord to communicate with muscles, organs, and other tissues.²

A condition in which muscles become stiff or tight due to abnormal signaling between the brain and muscles. Spasticity can interfere with normal movement and coordination.²

A term used to describe diseases that affect a very small number of people in the population. Definitions vary, but ultra-rare conditions typically affect fewer than 1 in 50,000 individuals.⁵