A Novel Mutation in Aspartoacylase Gene; Canavan Disease.

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.

• Authors: Mahmoudreza Ashrafi, Alireza Tavasoli, Pegah Katibeh, Omid Aryani, Mohammad Vafaee-Shahi
• Journal: Iranian journal of child neurology (Iran J Child Neurol) Vol. 9 Issue 4 Pg. 54-7 ( 2015) ISSN: 1735-4668 [Print] Iran
• PMID: 26664442 (Publication Type: Case Reports)