Title of article
A Novel Mutation in Aspartoacylase Gene; Canavan Disease
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 ,
Issue Information
فصلنامه با شماره پیاپی - سال 2015
Pages
4
From page
54
To page
57
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.
Journal title
Iranian Journal of Child Neurology (IJCN)
Serial Year
2015
Journal title
Iranian Journal of Child Neurology (IJCN)
Record number
2389457
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