A Novel Mutation in Aspartoacylase Gene; Canavan Disease

Mahmoodreza ASHRAFI, Alireza TAVASOLI, Pegah KATIBEH, Omid ARYANI, Mohammad VAFAEE-SHAHI



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.



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.


Canavan disease; Aspartoacylase deficiency; Aspartoacylase enzyme; ASPA gene

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DOI: https://doi.org/10.22037/ijcn.v9i4.8075


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