Author/Authors :
ASHRAFI، Mahmoodreza نويسنده Pediatric Neurology Division, Growth and Development Research Center, Children’s Medical Center, Pediatric Center of Excellence, Tehran University , , Tavasoli، Alireza نويسنده , , KATIBEH، Pegah نويسنده MD,Assistant professor of Pediatrics, Pediatrics department, Shiraz University of medical sciences , , ARYANI، Omid نويسنده Senior Researcher, Molecular Genetics, Department of Medical Genetics, Special Medical Center, Tehran, Iran , , VAFAEE-SHAHI، Mohammad نويسنده Pediatric Neurology Division, Growth and Development Research Center, Children’s Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran ,
Abstract :
Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal
recessive inheritance. Aspartoacylase deficiency results in decrease of myelin
biosynthesis, dysmyelination and brain edema. Although CD is a very common
in Ashkenazi Jews patients, several cases have been reported from non-Jewish
population. This report is based on a homozygous C.202G > A mutation in the
ASPA gene identified from an Iranian patient. To our knowledge, this type of
mutation has not been reported in non-Jewish population in the literature.
