نتایج جستجو برای: canavan disease

تعداد نتایج: 1490117  

Journal: :Journal of Dr. Behcet Uz Children's Hospital 2013

2015
Mahmoudreza ASHRAFI Alireza TAVASOLI Pegah KATIBEH Omid ARYANI Mohammad VAFAEE-SHAHI

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 g...

Journal: :Current opinion in molecular therapeutics 1999
P Leone C G Janson S J McPhee M J During

The neurogenetic prototypic disease on which we chose to test our gene therapy strategy is Canavan disease (CD). CD is an autosomal recessive leukodystrophy associated with spongiform degeneration of the brain. At present the disease is uniformly fatal in affected probands. CD is characterized by mutations in the aspartoacylase (ASPA) gene, resulting in loss of enzyme activity. In this review, ...

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