canavan disease/tremolor

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Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease.

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Genetic mutations that severely diminish the activity of aspartoacylase (ASPA) result in the fatal brain dysmyelinating disorder, Canavan disease. There is no effective treatment. ASPA produces free acetate from the concentrated brain metabolite, N-acetylaspartate (NAA). Because acetyl coenzyme A is

Glyceryl triacetate for Canavan disease: a low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model.

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Canavan disease (CD) is a fatal dysmyelinating genetic disorder associated with aspartoacylase deficiency, resulting in decreased brain acetate levels and reduced myelin lipid synthesis in the developing brain. Here we tested tolerability of a potent acetate precursor, glyceryl triacetate (GTA), at

Effects of AAV-2-mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease.

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The tremor rat is a spontaneous epilepsy model with a seizure phenotype caused by a deletion in the aspartoacylase (ASPA) gene. The absence of ASPA expression in these animals results in undetectable levels of enzyme activity and the accumulation of the substrate N-acetyl-aspartate (NAA) in brain,

Congenital tremor with spongy degeneration of the central nervous system in two puppies.

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Two crossbred puppies exhibited a generalized tremor that was accentuated by excitement or voluntary movement. Hypermetria was also present. Neurohistologic examination showed a bilaterally symmetric spongy condition, predominantly of the gray matter in the brain and spinal cord. These two dogs were

Involvement of aspartoacylase in tremor expression in rats.

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Essential tremor (ET) is a common movement disorder with a poorly understood etiology. The TRM/Kyo mutant rat, showing spontaneous tremor, is an animal model of ET. Recently, we demonstrated that tremors in these rats emerge when two mutant loci, a missense mutation in the

A safety trial of high dose glyceryl triacetate for Canavan disease.

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Canavan disease (CD MIM#271900) is a rare autosomal recessive neurodegenerative disorder presenting in early infancy. The course of the disease is variable, but it is always fatal. CD is caused by mutations in the ASPA gene, which codes for the enzyme aspartoacylase (ASPA), which breaks down

Myelin lipid abnormalities in the aspartoacylase-deficient tremor rat.

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The high concentration of N-acetylaspartate (NAA) in neurons of the central nervous system and its growing clinical use as an indicator of neuronal viability has intensified interest in the biological function of this amino acid derivative. The biomedical relevance of such inquiries is highlighted

A new rat mutant with defective overhairs and spongy degeneration of the central nervous system: clinical and pathologic studies.

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A new spontaneous autosomal recessive mutation with a nervous disorder and a hair anomaly occurred in a colony of Sprague Dawley rats. The animals developed a generalized body tremor at about 15 days of age, and with increasing age a progressive flaccid paresis occurred. Light microscopy revealed

Extensive aspartoacylase expression in the rat central nervous system.

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Aspartoacylase (ASPA) catalyzes deacetylation of N-acetylaspartate (NAA) to generate acetate and aspartate. Mutations in the gene for ASPA lead to reduced acetate availability in the CNS during development resulting in the fatal leukodystrophy Canavan disease. Highly specific polyclonal antibodies

Parkinson's disease: oxidative stress and therapeutic approaches.

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Parkinson's disease (PD) is a neurodegenerative disorder, caused by reduced levels of catecholamines and oxidative stress. Symptoms seen in the disease include tremor, rigidity, bradykinesia and postural disability. Oxidative stress plays a key role in neurodegeneration and motor abnormalities seen

Aspartoacylase is a regulated nuclear-cytoplasmic enzyme.

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Mutations in the gene for aspartoacylase (ASPA), which catalyzes deacetylation of N-acetyl-L-aspartate in the central nervous system (CNS), result in Canavan Disease, a fatal dysmyelinating disease. Consistent with its role in supplying acetate for myelin lipid synthesis, ASPA is thought to be

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