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canavan disease/seizures
پیوند در کلیپ بورد ذخیره می شود
صفحه 1 از جانب 16 نتایج
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.
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Canavan disease (CD), an autosomal recessive neurodegenerative disorder, is caused by mutations in the aspartoacylase (ASPA) gene. In the present study, the ASPA gene was analyzed in 24 non-Jewish patients with CD from 23 unrelated families. Within this cohort, we found three large novel deletions
Canavan disease: a review of recent developments.
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The clinical features, causes and potential treatment of Canavan disease are reviewed. The course of the illness can show considerable variation, and can sometimes be protracted. It has an autosomal recessive mode of inheritance, and is caused by mutations in the gene for aspartoacetylase, localized
Congenital spongy degeneration of the brain (van Bogaert - Bertrand) associated with micrencephaly and ponto - cerebellar atrophy (contributions to the pathology of glial dystrophy of intrauterin origin).
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The present paper reports on two twin brothers who presented clinically at birth a syndrome characterized by progressive development of muscular hypertonia, opisthotonus, micrencephaly, amaurosis and short, localized clonic seizures. Both children died soon after one year of age. The anatomic
Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly.
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Canavan disease (CD) is a rare autosomal recessive genetic disorder characterized by early onset progressive spongy degeneration of the brain involving the axon's myelin sheath. Patients with CD have leukoencephalopathy and megalencephaly; clinically they show a variable course ranging from slow
Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease.
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Canavan disease is an autosomal recessive leukodystrophy characterized by excessive excretion of N-acetylaspartic acid (NAA) in urine. The disease is caused by deficiency of aspartoacylase, the enzyme responsible for the hydrolysis of NAA into acetate and l-aspartate. Patients, who are often
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,
An atypical case of Canavan disease with stroke-like presentation.
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BACKGROUND
Canavan disease is an autosomal recessive leukodystrophy caused by a deficiency of aspartoacylase. The disease has a severe course, with death occurring in the first few years of life. Atypical patients with mild courses have been reported, but acute presentations similar to stroke have
A case of Canavan disease with microcephaly.
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BACKGROUND
Canavan disease is an autosomal recessive disorder with spongy degeneration of white matter of the brain. It presents with developmental delay, visual problems and macrocephaly.
METHODS
We report a ten-month old boy with Canavan disease who presented with global developmental delay,
[The intermediate form of maple syrup disease].
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A severely retarded and tetraspastic child died at the age of four years upon a respiratory infection with acidosis, disturbances of serum electrolytes and lactic aciduria. Brain autopsy showed a spongy degeneration and led to suspect an inborn error of amino-acid metabolism. These findings
N-acetylaspartic acid promotes oxidative stress in cerebral cortex of rats.
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N-acetylaspartic acid accumulates in Canavan Disease, a severe leukodystrophy characterized by swelling and spongy degeneration of the white matter of the brain. This inherited metabolic disease, caused by deficiency of the enzyme aspartoacylase, is clinically characterized by severe mental
Intracerebroventricular administration of N-acetylaspartic acid impairs antioxidant defenses and promotes protein oxidation in cerebral cortex of rats.
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N-acetylaspartic acid (NAA) is the biochemical hallmark of Canavan Disease, an inherited metabolic disease caused by deficiency of aspartoacylase activity. NAA is an immediate precursor for the enzyme-mediated biosynthesis of N-acetylaspartylglutamic acid (NAAG), whose concentration is also
N-acetylaspartic acid impairs enzymatic antioxidant defenses and enhances hydrogen peroxide concentration in rat brain.
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N-Acetylaspartic acid accumulates in Canavan Disease, a severe inherited neurometabolic disease clinically characterized by severe mental retardation, hypotonia, macrocephaly and generalized tonic and clonic type seizures. Considering that the mechanisms of brain damage in this disease remain poorly
Neuroprotective role of lipoic acid against acute toxicity of N-acetylaspartic acid.
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N-Acetylaspartic acid (NAA) accumulates in Canavan disease, a severe inherited neurometabolic disorder clinically characterized by mental retardation, hypotonia, macrocephaly, and seizures. The mechanisms of brain damage in this disease remain poorly understood. Recent studies developed by our
Dysmyelinating and demyelinating conditions in infancy.
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The myelin membrane is essential for rapid conduction of nerve impulses through the central nervous system. Failure of myelination--dysmyelination--may arise through several mechanisms. The synthesis of a particular myelin protein can be defective, as occurs for proteolipid protein in
Advances on genetic rat models of epilepsy.
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Considering the suitability of laboratory rats in epilepsy research, we and other groups have been developing genetic models of epilepsy in this species. After epileptic rats or seizure-susceptible rats were sporadically found in outbred stocks, the epileptic traits were usually genetically-fixed by
کاملترین پایگاه داده گیاهان دارویی با پشتیبانی علمی
- به 55 زبان کار می کند
- درمان های گیاهی با پشتوانه علم
- شناسایی گیاهان توسط تصویر
- نقشه GPS تعاملی - گیاهان را در مکان نشان دهید (به زودی)
- انتشارات علمی مربوط به جستجوی خود را بخوانید
- گیاهان دارویی را با توجه به اثرات آنها جستجو کنید
- علایق خود را سازماندهی کنید و با تحقیقات اخبار ، آزمایشات بالینی و حق ثبت اختراع در جریان باشید
علامت یا بیماری را تایپ کنید و در مورد گیاهانی که ممکن است به شما کمک کنند ، بخوانید ، یک گیاه تایپ کنید و بیماری ها و علائمی را که در برابر آن استفاده می شود ، ببینید.
* کلیه اطلاعات براساس تحقیقات علمی منتشر شده است
