Canavan Disease (Spongy Degeneration of Infancy)

101  relevant articles (1 outcomes, 6 trials/studies) found for this Disease

Spongy Degeneration of Infancy; Leukodystrophy, Spongiform; Canavan Disease, Familial Form; Canavan Disease, Infantile; Canavan Disease, Juvenile; Canavan Disease, Neonatal; Canavan Disease, Sporadic Form; Canavan Disease, Type I; Canavan Disease, Type II; Canavan Disease, Type III; Deficiency Disease, Aspartoacylase; Familial Form of Canavan Disease; Infantile Canavan Disease; Juvenile Canavan Disease; Neonatal Canavan Disease; Spongy Disease of Central Nervous System; Sporadic Form of Canavan Disease; Type I Canavan Disease; Type II Canavan Disease; Type III Canavan Disease; Aspartoacylase Deficiency Disease; Aspartoacylase Deficiency Diseases; Bogaert-Bertrand Disease, Canavan-van; Canavan van Bogaert Bertrand Disease; Deficiency Diseases, Aspartoacylase; Disease, Aspartoacylase Deficiency; Diseases, Aspartoacylase Deficiency; Leukodystrophies, Spongiform; Spongiform Leukodystrophies; Spongiform Leukodystrophy; Canavan-van Bogaert-Bertrand Disease; Spongy Disease of White Matter

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Nervous System Diseases (Neurological Disorders)
2.	Tremor (Tremors)
3.	Neurodegenerative Diseases (Neurodegenerative Disease)
4.	Canavan Disease (Spongy Degeneration of Infancy)
5.	Mental Retardation (Idiocy)

Experts

1.	Leone, P: 5 articles (09/2006 - 07/2000)
2.	Madhavarao, Chikkathur N: 3 articles (05/2007 - 10/2005)
3.	Freese, A: 3 articles (08/2006 - 07/2000)
4.	Janson, C G: 3 articles (08/2006 - 07/2000)
5.	Leone, Paola: 3 articles (01/2006 - 07/2002)
6.	Matalon, R: 3 articles (03/2004 - 01/2000)
7.	Namboodiri, M A Aryan: 2 articles (05/2007 - 10/2005)
8.	Raghavan, S S: 2 articles (09/2006 - 04/2005)
9.	Kolodny, E H: 2 articles (09/2006 - 11/2002)
10.	Zeng, B J: 2 articles (09/2006 - 11/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Canavan Disease:

1.	aspartoacylaseIBA 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" 09/01/2008 - "PURPOSE: Canavan disease, caused by a deficiency of aspartoacylase, is one of the most common cerebral degenerative diseases of infancy" 06/01/2008 - "Canavan disease is caused by a genetic mutation in aspartoacylase gene" 06/01/2008 - "Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease." 05/07/2007 - "These results show that aspartoacylase is a member of the caboxypeptidase A family and offer novel explanations for most loss-of-function aspartoacylase mutations associated with Canavan Disease." Order ALL the reference details at left...
2.	N-acetylaspartate (N-acetyl aspartate)IBA 09/01/2007 - "N-acetylaspartic acid (NAA) is a specific urinary marker for Canavan disease, an autosomal recessive leukodystrophy" 08/01/2007 - "Canavan disease is an autosomal recessive leukodystrophy characterized by excessive excretion of N-acetylaspartic acid (NAA) in urine" 08/01/2007 - "Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease." 08/01/2007 - "N-acetylaspartic acid accumulates in Canavan Disease, a severe leukodystrophy characterized by swelling and spongy degeneration of the white matter of the brain" 06/27/2006 - "Canavan disease and the role of N-acetylaspartate in myelin synthesis." Order ALL the reference details at left...
3.	Biological Markers (Surrogate Marker)IBA 02/01/1990 - "The present report confirms the study of Matalon et al. [1988] 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" Order ALL the reference details at left...
4.	Protons (Proton)IBA 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" Order ALL the reference details at left...
5.	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 - "CONCLUSION: Reliable PGD for Canavan disease is possible using a single-cell nested PCR approach." 09/01/2005 - "METHODS: Two carrier couples requested PGD for Canavan disease" Order ALL the reference details at left...
6.	LithiumIBA 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." 10/01/2005 - "Conversely, lithium significantly decreases whole-brain levels of N-acetyl aspartate in a rat genetic model of Canavan disease in which cerebral N-acetyl aspartate is chronically elevated" Order ALL the reference details at left...
7.	Aspartic Acid (Aspartate)FDA Link 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" 05/01/2002 - "The effects of lithium chloride and other substances on levels of brain N-acetyl-L-aspartic acid in Canavan disease-like rats." 05/05/2000 - "Canavan disease is caused by mutations in aspartoacylase, the enzyme that degrades N-acetylaspartate (NAA) into acetate and aspartate" Order ALL the reference details at left...
8.	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 - "CONCLUSION: 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." 11/01/2005 - "Neither N-acetylglutamate nor N-acetylaspartylglutamate could be detected in the plasma or urine of controls or patients with Canavan disease" Order ALL the reference details at left...
9.	DNA (Deoxyribonucleic Acid)IBA 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" 01/01/2001 - "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" 01/01/1994 - "Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis." 01/01/1998 - "Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish Population." Order ALL the reference details at left...
10.	Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA 03/18/2004 - "Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency." 01/01/1994 - "These include glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria), mevalonic aciduria, N-acetylaspartic aciduria (Canavan disease) and L-2-hydroxyglutaric aciduria" Order ALL the reference details at left...