Canavan disease

Loading...
Thumbnail Image

Date

2005-09-30

Journal Title

Journal ISSN

Volume Title

Publisher

Abstract

Canavan disease (CD) is an autosomal recessive disorder, characterized by spongiform degeneration of the white matter of the brain. Aspartoacylase (ASPA) hydrolyses N-acetylaspartic acid to aspartate and acetate. Mutation of the gene results in enzyme deficiency to result CD. The clinical features seen in the disease are head lag, macrocephaly, hypotonia and mental retardation. More than forty five mutations have been identified in the ASPA gene. Pathophysiological abnormalities seen in CD is likely due to abnormal metabolic levels of NAA, aspartate, acetate, aspartate aminotransferase, glutamate, glutamate dehydrogenase, g-aminobutyric acid, and ketoglutarate dehydrogenase complex. These pathways are useful to understand possible therapeutical targets and pharmacological manipulations in CD.

Description

Table of contents

Keywords

ASPA knockout mouse, aspartoacylase, Canavan disease, neurodegeneration, spongiform degeneration, tremor rat

Citation

Collections