how to cite this article: ashrafi mr, tavasoli ar, katibeh p, aryani o, vafaee-shahi m. a novel mutation in aspartoacylase gene; canavan disease. iran j child neurol. autumn 2015; 9(4): 54-57. abstract objective canavan disease (cd) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination a...

Canavan disease (CD) is an autosomal recessive disorder, characterized by spongy degeneration of the brain. Patients with CD have aspartoacylase (ASPA) deficiency, which results accumulation of N-acetylaspartic acid (NAA) in the brain and elevated excretion of urinary NAA. Clinically, patients with CD have macrocephaly, mental retardation and hypotonia. A knockout mouse for CD which was enginee...

Introduction Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance (1). This neurodegenerative disorder is caused by a defect in the aspartoacylase (ASPA) gene encoding the critical enzyme aspartoacylase, which has the role of hydrolyzing N-acetyl-L-aspartic acid (NAA) and providing the acetyl group to oligodendrocytes for myelin synthesis (2, 3). Asp...

Canavan disease (CD) (OMIM 271900) is an autosomal recessive leucodystrophy characterised by swelling and spongy degeneration of the white matter of the brain. The biochemical marker for the disorder is increased level of N-acetylaspartic acid (NAA) in cerebrospinal fluid and urine owing to aspartoacylase (ASPA) deficiency. 2 The disease is caused by mutations in the gene encoding the enzyme as...

Canavan disease (CD) (OMIM 271900) is an autosomal recessive leucodystrophy characterised by swelling and spongy degeneration of the white matter of the brain. The biochemical marker for the disorder is increased level of N-acetylaspartic acid (NAA) in cerebrospinal fluid and urine owing to aspartoacylase (ASPA) deficiency. 2 The disease is caused by mutations in the gene encoding the enzyme as...

Aspartoacylase (ASPA)-deficient patients [Canavan disease (CD)] reportedly have increased urinary excretion of N-acetylaspartylglutamate (NAAG), a neuropeptide abundant in the brain. Whether elevated excretion of urinary NAAG is due to ASPA deficiency, resulting in an abnormal level of brain NAAG, is examined using ASPA-deficient mouse brain. The level of NAAG in the knockout mouse brain was si...

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...

Aspartoacylase/aminoacylase II (ASPA/ACY II) is mainly synthesized in oligodendrocytes to contribute in myelin synthesis. Although axonal damage is seen in the brain with human immunodeficiency virus encephalitis (HIVE), ASPA contribution in the pathology is not known. Immunostaining study showed that ASPA protein is reduced in the white matter of patients with HIVE compared to the control. Wes...