|1.||Nervous System Diseases (Neurological Disorders)
|3.||Canavan Disease (Leukodystrophy, Spongiform)
|4.||Neurodegenerative Diseases (Neurodegenerative Disease)
|5.||Mental Retardation (Idiocy)
|1.||Leone, Paola: 9 articles (05/2014 - 07/2002)|
|2.||Matalon, Reuben: 9 articles (02/2011 - 05/2003)|
|3.||Surendran, Sankar: 7 articles (12/2010 - 05/2003)|
|4.||Viola, Ronald E: 6 articles (11/2014 - 05/2006)|
|5.||Tyring, Stephen K: 6 articles (07/2005 - 05/2003)|
|6.||Francis, Jeremy S: 5 articles (05/2014 - 11/2005)|
|7.||Moffett, John R: 5 articles (01/2013 - 10/2005)|
|8.||Madhavarao, Chikkathur N: 5 articles (06/2010 - 10/2005)|
|9.||Leone, P: 5 articles (09/2006 - 07/2000)|
|10.||Szucs, Sylvia: 4 articles (02/2011 - 08/2003)|
09/15/2002 - "Recent studies have shown that aspartoacylase (ASPA), the defective enzyme in Canavan disease, is detectable in the brain only in the oligodendrocytes. "
02/01/2015 - "Canavan disease is an autosomal recessive leukodystrophy caused by a deficiency of aspartoacylase. "
01/01/2015 - "A Novel Mutation in Aspartoacylase Gene; Canavan Disease."
08/05/2014 - "Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective."
01/01/2014 - "Canavan Disease (CD) is a leukodystrophy caused by homozygous null mutations in the gene encoding aspartoacylase (ASPA). "
07/01/2010 - "The results suggest that lithium administration may be beneficial in patients with Canavan disease."
07/01/2010 - "Six patients with clinical, laboratory and genetic confirmation of Canavan disease were recruited and underwent treatment with lithium. "
07/01/2010 - "Our group has previously reported the first clinical application of lithium in a child affected by Canavan disease. "
10/01/2005 - "This report describes the first clinical application of lithium in a human subject with Canavan disease. "
10/01/2005 - "This investigation reports decreased N-acetyl aspartate levels in the brain regions tested and magnetic resonance spectroscopic values that are more characteristic of normal development and myelination, suggesting that a larger, controlled trial of lithium may be warranted as supportive therapy for Canavan disease by decreasing abnormally elevated N-acetyl aspartate."
|3.||Thioctic Acid (Lipoic Acid)IBA
|4.||N-acetylaspartate (N-acetyl aspartate)IBA
10/28/2015 - "N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time."
09/01/2015 - "Urine excretion of N-acetylaspartic acid was grossly increased, suggesting Canavan disease. "
05/01/2015 - "Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model."
01/01/2014 - "Application of this coefficient to interpretation of in vivo spectra confirmed increased N-acetylaspartate level in Canavan disease. "
01/01/2013 - "These results suggest that the loss of catalytic function and the accumulation of N-acetylaspartate in Canavan disease is at least partially a consequence of the decreased protein stability caused by these mutations."
|5.||DNA (Deoxyribonucleic Acid)IBA
11/01/2010 - "We herein describe the first Chinese case of Canavan disease diagnosed by biochemical analysis and confirmed by DNA studies. "
10/01/1995 - "The isolation of the gene and identification of mutations causing Canavan disease have led to the possibility of using DNA methods for the diagnosis of Canavan disease and for carrier detection. "
01/01/1994 - "Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis."
11/01/2009 - "DNA from 31 cell lines, representing many of the common alleles for Tay Sachs disease, Canavan disease, familial dysautonomia, mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia type C, Bloom syndrome, Gaucher disease, and glycogen storage disease, was prepared by the Repository and tested in six clinical laboratories using three different PCR-based assay platforms. "
01/01/2001 - "Prenatal diagnosis of Canavan disease is possible by the measurement of N-acetylaspartate in the amniotic fluid, but the method of choice is by DNA analysis. "
|6.||Biological Markers (Surrogate Marker)IBA
02/01/1990 - "The present report confirms the study of Matalon et al.  in a totally different ethnic group and provides independent verification that aspartoacylase activity is the first documented specific biochemical marker in Canavan disease and plays an important role in pathogenesis. "
10/01/2005 - "While N-acetyl aspartate is a commonly used surrogate marker for neuronal density and correlates with neuronal viability, grossly elevated whole-brain levels of N-acetyl aspartate in Canavan disease are associated with dysmyelination and mental retardation. "
03/01/2000 - "Massive excretion in the urine of N-acetylaspartic acid is the biochemical marker for Canavan disease, which is caused by deficiency of the enzyme aspartoacylase. "
09/01/1993 - "Canavan disease (CD) has only been diagnosed on autopsy or brain biopsy, however, specific biochemical markers, such as N-acetylaspartic acid (NAA) and aspartoacylase activity, have recently been described in CD. "
08/01/2006 - "This study was designed to model the natural history of Canavan disease using MRI and proton magnetic resonance spectroscopy ( (1)H-MRS). "
08/01/2006 - "Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI."
04/01/2007 - "Proton MR spectroscopy finding of elevated N-acetyl-L: -aspartate is considered diagnostic of Canavan disease. "
|8.||Prostaglandins D (PGD)IBA
09/01/2005 - "The objective of this study was to develop a preimplantation genetic diagnosis (PGD) protocol for Canavan disease. "
09/01/2005 - "Reliable PGD for Canavan disease is possible using a single-cell nested PCR approach."
09/01/2005 - "Two carrier couples requested PGD for Canavan disease. "
|9.||Aspartic Acid (Aspartate)FDA Link
07/01/2013 - "The disease results from the accumulation of N-acetyl aspartic acid in the brain, due to aspartoacylase deficiency. "
02/01/2007 - "The disease is an inborn error of metabolism caused by aspartoacylase deficiency resulting from accumulation of N-acetyl aspartic acid in the brain. "
04/01/2001 - "The present result is consistent with the regulation of NAA synthesis by the activity of a single enzyme, L-aspartate-N-acetyltransferase, in vivo, and with its control in Canavan disease by limited substrate supply and/or product inhibition. "
04/01/2001 - "In Canavan disease, where [NAA] is increased (p < 0.001) and [aspartate] is deceased (p < 0.001), V(NAA) was significantly reduced to 3.6 +/- 0.1 nmol/min/g (p < 0.001). "
08/01/1990 - "Increased amounts of urinary N-acetyl-aspartic acid was found in two infants with biopsy proven Canavan disease. "
|10.||N-acetyl-1-aspartylglutamic acid (NAAGA)IBA
03/10/2003 - "Characterisation of the 1H and 13C NMR spectra of N-acetylaspartylglutamate and its detection in urine from patients with Canavan disease."
05/01/1999 - "The biochemical role of N-acetylaspartylglutamate and its relationship to glutamatergic function may be relevant to the pathogenesis of Canavan disease."
05/01/1999 - "N-acetylaspartylglutamate in Canavan disease: an adverse effector?"
07/01/1994 - "Detection of increased urinary N-acetylaspartylglutamate in Canavan disease."
11/01/2010 - "We found an elevation of CSF N-acetylaspartylglutamate (NAAG) in patients with Pelizaeus-Merzbacher disease (PMD)-PLP1 gene, Pelizaeus-Merzbacher-like disease-GJC2 gene and Canavan disease-ASPA gene. "
|1.||Enzyme Replacement Therapy