a novel mutation in aspartoacylase gene; canavan disease

how to cite this article: ashrafi mr, tavasoli ar, katibeh p, aryani o, vafaee-shahi m. a novel mutation in aspartoacylase gene; canavan disease. iran j child neurol. autumn 2015; 9(4): 54-57. abstract objective 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.