<unk> , also known as Canavan's disease (CD), Van Bogaert-Bertrand type or Aspartoacylase (AspA) deficiency, is a rare autosomal recessive neurodegenerative disorder. It belongs to a group of genetic disorders known as leukodystrophies, where the growth and maintenance of myelin sheath in the<unk>  nervous system (CNS) are impaired. There are three types of<unk>  degeneration: infantile, congenital and juvenile, with juvenile being the most severe type. Common symptoms in infants include lack of motor skills, weak muscle tone, and macrocephaly. It may also be accompanied by difficulties in feeding and swallowing, seizures and sleep disturbances. Affected children typically die before the age of 10, but life expectancy can vary. The cause of<unk>  degeneration of the CNS is the mutation in a gene coding for aspartoacylase (AspA), an enzyme that hydrolyzes N-acetyl aspartic acid (NAA). In the absence of AspA, NAA accumulates and results in<unk>  degeneration. The exact pathophysiological causes of the disease are currently unclear, but there are developing theories.<unk>  degeneration can be diagnosed with neuroimaging techniques and urine examination. There is no current treatment for<unk>  degeneration, but research utilising gene therapy to treat the disease is underway.<unk>  degeneration is found to be more prevalent among Ashkenazi Jews, with an incidence of 1/6000 amongst this ethnic group.
Spongy degeneration of the central nervous system
Lesional demyelinations of the central nervous system
Inflammatory demyelinating diseases of the central nervous system
Visual pathway lesions
Neurogenic inflammation
Central nervous system fatigue
Effects of early-life exposures to anesthesia on the brain
Neurodegeneration with brain iron accumulation