| Abstract | Canavan disease is a neurodegenerative disease with autosomal recessive inheritance. Although this disease is prevalant among Ashkenazi Jewish population, several cases have been reported from all over the world. Canavan disease is caused by a genetic mutation in aspartoacylase gene. We have identified a novel mutation, a homozygous C432+1G>A mutation, in a 10-month-old boy who has a typical Canavan phenotype (without macrocephaly) accompanied by typical brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS) and diffusion magnetic resonance findings. The patient's mother was found to be heterozygous for this mutation. We believe that future studies of aspartoacylase gene in various ethnic groups could lead to a better understanding of Canavan's pathophysiology and gene therapy. |
| Authors | Aycan Unalp, Ender Altiok, Nedret Uran, Aysel Oztürk, Sirin Yüksel
(Affiliation: Pediatric Neurology, Dr. Behçet Uz Children's Disease and Pediatric Surgery Education and Research Hospital, Montro-Izmir. aycanunalp at mynet.com)
|
| Journal | Journal of tropical pediatrics
(J Trop Pediatr)
Vol. 54
Issue 3
Pg. 208-10
(Jun 2008)
ISSN: 1465-3664 England |
| PMID | 17999961
(Publication Type: Case Reports, Journal Article)
|
| Chemical References |
- Amidohydrolases
- aspartoacylase
|
| Topics |
- Amidohydrolases
(genetics)
- Canavan Disease
(enzymology, genetics)
- Humans
- Infant
- Male
- Mutation
- Turkey
|
