Canavan Disease

Known as: Disease, Canavan, Leukodystrophy, Spongiform, ASPA DEFICIENCY 
A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy… (More)
National Institutes of Health

Related topics

Related topics

19 relations
ASPA geneAminoacylase 2 DeficiencyAutosomal recessive inheritanceCNS disorder
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Narrower (1)

Canavan Disease, Neonatal

Broader (1)

Leukodystrophy

Papers overview

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Highly Cited
2012
Highly Cited
2012
Long-term follow-up after gene therapy for canavan disease.
Canavan disease is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to loss of enzyme… (More)
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Review
2007
Review
2007
N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology.
The brain is unique among organs in many respects, including its mechanisms of lipid synthesis and energy production. The nervous… (More)
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2007
2007
Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.
Aspartoacylase catalyzes hydrolysis of N-acetyl-l-aspartate to aspartate and acetate in the vertebrate brain. Deficiency in this… (More)
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Highly Cited
2006
Highly Cited
2006
Immune responses to AAV in a phase I study for Canavan disease.
BACKGROUND Canavan disease is a rare leukodystrophy with no current treatment. rAAV-ASPA has been developed for gene delivery to… (More)
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Highly Cited
2005
Highly Cited
2005
Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease.
Canavan's disease (CD) is a fatal, hereditary disorder of CNS development that has been linked to mutations in the gene for the… (More)
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Highly Cited
2002
Highly Cited
2002
Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain.
This clinical protocol describes virus-based gene transfer for Canavan disease, a childhood leukodystrophy. Canavan disease, also… (More)
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Review
1995
Review
1995
Canavan disease: from spongy degeneration to molecular analysis.
Establishing the basic defect in Canavan disease has led to reliable biochemical methods for the diagnosis of this disease. The… (More)
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1994
1994
Canavan disease: mutations among Jewish and non-Jewish patients.
Canavan disease is an autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase (ASPA). Sixty-four probands… (More)
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Highly Cited
1993
Highly Cited
1993
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
Canavan disease, an autosomal recessive leukodystrophy, is caused by deficiency of aspartoacylase and accumulation of N… (More)
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Highly Cited
1988
Highly Cited
1988
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.
An increased amount of N-acetylaspartic acid was found in urine and plasma of three patients, from two families, with the… (More)
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