This disease is first described by
Canavan in 1931, inherited as autosomal recessive trait with the gene maped to chromosome No. 17p13 (short
arm of ch 17 at the locus 13) which
codes for the enzyme aspartoacylase
that hydrolyse N-acetylaspartic acid to
L-aspartic acid (1), in the series of
Kaul 12 of 17 cases have point
mutation while the remainder have
compound heterozygous state.