Canavan disease

external

• Causes

  • Ashkenazi Jew
  • ASPA gene mutation

• Effects

  • Macrocephaly
  • Mental retardation
  • Global developmental delay
  • Neonatal hypotonia

• Parents

  • Autosomal recessive disorder
  • Leukodystrophy

• Description

  • "ASPA gene chromosome 17 Degeneration of myelin in the phospholipid layerof the axon. Live only into childhood."