Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 161 for “"ataxia"”.
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Elucidating the reversibility of ataxia
… spectrin, are implicated in spinocerebellar ataxia type 5 (SCA5) and spectrin-associated autosomal recessive cerebellar ataxia type 1 (SPARCA1), respectively. Our mouse model, lacking b-III spectrin (KO), mimics the progressive human phenotype displaying motor deficiencies as well as reduced …
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Exploring neurodegeneration in Ataxia-Telangiectasia
Ataxia-Telangiectasia (A-T) is a very rare autosomal recessive DNA repair disorder. The condition is characterised by a progressive neurodegenerative disorder. Cancer predisposition, immunodeficiency and respiratory disease can result in premature death. The life expectancy of a patient with A-T is …
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Robotic compensation of cerebellar ataxia
… errors, which are referred to clinically as ataxia, are consistent with failing to compensate for the dynamics of the body, especially its inertia during high speed movements. We have developed a robotic system that is capable of dynamically canceling some of the inertial effects in order to …
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Validierung der Zellzyklusdiagnostik bei Ataxia telangiectasia
… Patienten mit der klinischen Verdachtsdiagnose Ataxia telangiectasia beschrieben. Hierzu wurden die Daten von 327 Patienten ausgewertet. In 82 Fällen ergab sich eine Bestätigung der Verdachtsdiagnose, in 225 Fällen konnte das Vorliegen dieser Erkrankung ausgeschlossen werden, bei den übrigen …
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Molecular Pathogenesis of Spinocerebellar Ataxia type 10
… repeat within a target gene. Spinocerebellar ataxia type 10 (SCA10) is a unique autosomal dominant cerebellar ataxia (ADCA). The presence of seizure in addition to pancerebellar ataxia is a characteristic clinical manifestation of SCA10. More interestingly, the genetic mutation to cause SCA10 …
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Molecular Pathogenesis of Spinocerebellar Ataxia type 10
Spinocerebellar ataxia type 10 (SCA10) is a unique autosomal dominant cerebellar ataxia (ADCA) which habors non-coding ATTCT repeat expansion on the 9th intron of the ATXN10 gene. The presence of seizure in addition to pancerebellar ataxia is a characteristic clinical manifestation of SCA10. How …
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Investigating the pathogenesis and therapy of Friedreich Ataxia
Friedreich ataxia (FRDA) is an inherited autosomal recessive neurodegenerative disorder caused by a GAA trinucleotide repeat expansion mutation within the first intron of the FXN gene. Normal individuals have 5 to 30 GAA repeats, whereas affected individuals have from approximately 70 to more than …
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Therapeutic testing and epigenetic characterization of Friedreich Ataxia
Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disorder with severely debilitating effects and no current cure. FRDA is mainly caused by the hyper-expansion of a GAA repeat present in intron 1 of the FXN gene, which results in decreased gene expression and consequently a …
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How is Ataxia-Telangiectasia Mutated Protein Kinase Activated?
Ataxia-Telangiectasia Mutated (ATM) is a key protein kinase in the cell’s response to double-stranded breaks in DNA. This damage is detected by the Mre11-Rad50-Nbs1 (MRN) complex, which recruits ATM to the DNA. Upon activation, ATM phosphorylates a vast range of substrates, which triggers a …
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The role of neuron-microglial interactions in Ataxia-Telangiectasia
Ataxia-Telangiectasia (A-T) is a genome instability disorder characterised by progressive loss of cerebellar neurons, as well as metabolic and immunological deficits. A-T is caused by mutations in ATM kinase, a critical regulator of cellular response to DNA damage, oxidative stress, and more …
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Molecular and genetic characterization of spinocerebellar ataxia type 5 (SCA5)
Spinocerebellar ataxia type 5 (SCA5) is a progressive neurodegenerative disorder, which primarily affects the cerebellum. The disease is inherited in an autosomal dominant pattern, with onset typically occurring in the 3rd or 4th decade of life. In 1994, SCA5 was mapped to the centromeric region of …
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Mechanisms of cytosolic DNA sensing and neuroinflammation in ataxia-telangiectasia
… stability in the central nervous system (CNS). Ataxia-telangiectasia (A-T) is a prototypical genome instability syndrome caused by loss-of-function mutations in ATM kinase, a master regulator of the cellular response to DNA damage, including DNA double stand breaks and oxidative stress. A-T is a …
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The Role of Microglia and Astrocyte in Spinocerebellar Ataxia Type 1
Spinocerebellar ataxia type 1 (SCA1) is a fatal dominantly inherited neurodegenerative disease. Even though there has been illuminating work on the effect of the disease-causing protein, a polyQ expanded ATAXIN-1 (ATXN1) on neurons, the relative contribution to disease of glia has been unknown. …
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In vivo and in vitro studies of immunodeficiency in Ataxia-telangiectasia
Ataxia-telangiectasia (A-T) is a rare neurodegenerative disorder caused by mutations in the ATM gene which has a central role in the cellular response to DNA double strand breaks, cell cycle checkpoint control and initiation of the intrinsic pathway of apoptosis. Ataxiatelangiectasia is classified …
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At-risk individual's perspectives of Spinocerebellar Ataxia (SCA) Presymptomatic Testing (PT)
… of presymptomatic testing for Spinocerebellar Ataxia in South Africa, no research has looked at the impact, perceptions or acceptance of such testing within this diverse population. Despite the relatively high frequencies of late onset autosomal dominant conditions in South Africa, the uptake …
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Intra-Regional Differences in Cerebellar Vulnerability of Spinocerebellar Ataxia Type 1 Mice
… remains an open question. Spinocerebellar Ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease caused by an abnormal expansion of polyglutamine (polyQ) repeats in the ATAXIN1 (ATXN1) gene and characterized by cerebellar degeneration. Recent studies in patients with SCA1 …
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A Protective Role Of Autophagy In A Drosophila Model Of Friedreich's Ataxia (frda)
<p>Friedreich’s ataxia (FRDA) is an inherited autosomal recessive neurodegenerative disease. It affects 1 in every 50,000 people in central Europe and North America. FRDA is caused by deficiency of Frataxin, an essential mitochondrial iron chaperone protein, and the associated oxidative stress …
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