A Novel Mutation in Aspartoacylase Gene; Canavan Disease

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...

Descripción completa

Detalles Bibliográficos
Autores principales: ASHRAFI, Mahmoudreza, TAVASOLI, Alireza, KATIBEH, Pegah, ARYANI, Omid, VAFAEE-SHAHI, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4670978/
https://www.ncbi.nlm.nih.gov/pubmed/26664442
Descripción
Sumario: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.

Ejemplares similares