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...

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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
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author ASHRAFI, Mahmoudreza
TAVASOLI, Alireza
KATIBEH, Pegah
ARYANI, Omid
VAFAEE-SHAHI, Mohammad
author_facet ASHRAFI, Mahmoudreza
TAVASOLI, Alireza
KATIBEH, Pegah
ARYANI, Omid
VAFAEE-SHAHI, Mohammad
author_sort ASHRAFI, Mahmoudreza
collection PubMed
description 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.
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spelling pubmed-46709782016-01-01 A Novel Mutation in Aspartoacylase Gene; Canavan Disease ASHRAFI, Mahmoudreza TAVASOLI, Alireza KATIBEH, Pegah ARYANI, Omid VAFAEE-SHAHI, Mohammad Iran J Child Neurol Case Report 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. Shahid Beheshti University of Medical Sciences 2015 /pmc/articles/PMC4670978/ /pubmed/26664442 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
ASHRAFI, Mahmoudreza
TAVASOLI, Alireza
KATIBEH, Pegah
ARYANI, Omid
VAFAEE-SHAHI, Mohammad
A Novel Mutation in Aspartoacylase Gene; Canavan Disease
title A Novel Mutation in Aspartoacylase Gene; Canavan Disease
title_full A Novel Mutation in Aspartoacylase Gene; Canavan Disease
title_fullStr A Novel Mutation in Aspartoacylase Gene; Canavan Disease
title_full_unstemmed A Novel Mutation in Aspartoacylase Gene; Canavan Disease
title_short A Novel Mutation in Aspartoacylase Gene; Canavan Disease
title_sort novel mutation in aspartoacylase gene; canavan disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4670978/
https://www.ncbi.nlm.nih.gov/pubmed/26664442
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