Home > D. Systemic pathology > Genetic and developmental anomalies > Canavan disease
Canavan disease
Tuesday 14 April 2009
Canavan disease is characterized by megalocephaly, severe mental deficits, blindness, and signs and symptoms of white matter injury beginning in early infancy and relentlessly progressing to death by 18 months of age.
Autopsy studies have shown spongy degeneration of the white matter, particularly affecting subcortical U fibers and Alzheimer type II astrocytes in the gray matter.
Aspartoacylase activity is deficient in affected individuals, and point mutations and deletions in the gene for aspartylacylase, located on chromosome 17pter-p13, underlie this autosomal-recessive disease.
The function of N-acetylaspartic acid, which accumulates when this enzyme is mutated, and its relationship to myelin are not known.
