Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease
نویسندگان
چکیده
منابع مشابه
Canavan disease: studies on the knockout mouse.
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...
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متن کاملA 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 from non-Jewish population. This report is based on a homozygous C.202G>A mutation in the ASPA g...
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متن کاملTwo novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.
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...
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ژورنال
عنوان ژورنال: Molecular Therapy
سال: 2003
ISSN: 1525-0016
DOI: 10.1016/s1525-0016(03)00066-2