Progressive sensorimotor impairment is not associated with reduced dopamine and high energy phosphate donors in a model of ataxia-telangiectasia
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A Case Study of Ataxia Teilangiectasia Associated with Hodgkin Diease
A case of ataxia telangiectasia in a 7 year-old boy associated with Hodgkin disease was presented. Abnormalities of motion along with repeated respiratory tract infections requiring hospitalization started when he was 2 years old. The patient was placed on MOPP protocol Hodgkin treatment in addition to replacement therapy as advised.
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Background: Ataxia telangiectasia (AT) is one of the combined immunodeficiency syndromes with immunologic, neurologic, endocrinologic, hepatic and cutaneous abnormalities. Regarding the fact that autoimmune disorders; such as autoimmune hemolytic anemia (AIHA), are not generally expected in the course of AT, we present a patient with an unusual presentation of these two conditions. Case present...
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Ataxia-Telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease that is characterized by a wide range of features including, progressive cerebellar ataxia with onset during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. Mitochondrial DNA (mtDN...
متن کاملAtaxia telangiectasia: a review
DEFINITION OF THE DISEASE Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and ...
متن کاملProgressive decline in circulating CNP with aging is associated with progressive cardiac fibrosis and myocardial impairment
Background Cardiac aging is associated with altered myocardial structure and function that may contribute to the development of heart failure (HF), particularly in the elderly. C-type natriuretic peptide (CNP) is of endothelial cell origin and represents the most potent anti-fibrotic peptide of the natriuretic peptide (NP) family. CNP activates the NP receptor-B (NPR-B), which is found in high ...
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ژورنال
عنوان ژورنال: Journal of Neurochemistry
سال: 2004
ISSN: 0022-3042,1471-4159
DOI: 10.1046/j.1471-4159.2003.02278.x