Global ETD Search
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Showing 1 to 20 of 34 for “"Spinocerebellar Ataxia"”.
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Molecular Pathogenesis of Spinocerebellar Ataxia type 10
… of nucleotide 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 …
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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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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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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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At-risk individual's perspectives of Spinocerebellar Ataxia (SCA) Presymptomatic Testing (PT)
… the introduction 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 …
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Intra-Regional Differences in Cerebellar Vulnerability of Spinocerebellar Ataxia Type 1 Mice
… in cerebellar disease 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 …
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Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by a pathogenic expansion of a CAG repeat within the ataxin 7 gene, resulting in an expanded polyglutamine tract in the ATXN7 protein. SCA7 patients suffer from selective degeneration of cerebellar Purkinje …
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Role of The Gcn5 Histone Acetyltransferase In Spinocerebellar Ataxia Type 7 and In Immature Neurons
<p>Spinocerebellar Ataxia type 7 (SCA7) is a neurodegenerative disease caused by expansion of a CAG repeat encoding a polyglutamine tract in ATXN7, a component of the SAGA histone acetyltransferase (HAT) complex. Previous studies provided conflicting evidence regarding the effects of polyQ-ATXN7 on …
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Molecular Genetic Analysis of Spinocerebellar Ataxia Type 7 and a Further Study on the RNA Interference Analysis
Spinocerebellar ataxia type 7 (SCA7), autosomal dominant cerebellar ataxia type II (ADCA II), is a progressive autosomal dominant neurodegenerative disorder characterized clinically by cerebellar ataxia and blindness resulting from dysfunction and degeneration mainly of the cerebellum and retina. …
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Novel cell models for the study of spinocerebellar ataxia type 7 pathogenesis and therapy in a South African patient cohort
Spinocerebellar ataxia type 7 (SCA7) is a dominantly-inherited neurodegenerative disease, resulting from a CAG trinucleotide repeat expansion in the ataxin-7 gene. The Ataxin-7 protein is known to play a role in transcriptional regulation through association with cellular histone acetylation …
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Investigation of the physiological function of TTBK2 (tau tubulin kinase 2), a protein kinase mutated in spinocerebellar ataxia type 11 (SCA11)
… of TTBK2 truncating mutations as the cause of spinocerebellar ataxia type 11 (SCA11), in 2007, emphasised that TTBK2 has a prominent physiological role in the nervous system. When I started my PhD, there was little known about TTBK2 and many fundamental questions about TTBK2 remained …
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Molecular genetic characterization of ataxic movement disorders in mouse and human
… underlies a young onset autosomal recessive ataxia in mice and a late onset autosomal dominant ataxia (SCA15) in humans. Data presented show the utility of investigating spontaneous mouse mutations in understanding human disease. Through linkage and sequence analysis a novel mutation in the …
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Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a CAG repeat within the ataxin-7 gene. The South African SCA7 population has been shown to have arisen due to a founder effect, and a single nucleotide polymorphism (SNP) within ataxin-7 has …
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RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7
… of neurodegeneration. One of these disorders, spinocerebellar ataxia 7 (SCA7) exists at a higher frequency in South Africa, than elsewhere in the world, and a founder effect has been demonstrated in South Africa, such that every patient tested thus far is linked to a common ancestor. The …
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Ataxin-1 in cognition and mood
Ataxin-1 (ATXN1), the gene mutated in spinocerebellar ataxia type 1 (SCA1), may affect cognition and mood, but much remains unknown, including which brain areas are responsible, whether ATXN1 affects mood in mice, and the mechanisms of these effects. To answer these questions, we characterized …
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TTBK2 and Primary Cilia are Required for Purkinje Cell Survival
… the adult-onset, neurodegenerative disease, Spinocerebellar Ataxia type 11 (SCA11). SCA11 is characterized by a loss of Purkinje neurons throughout the cerebellum causing ataxic phenotypes in affected individuals. </p><p>Given this connection, this body of work aims to define the role of …
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The role of gene expression and aging in SCA1
Spinocerebellar ataxia type 1 is an autosomal dominant disorder caused by a CAG repeat expansion encoding a polyglutamine tract, where patients present with a lack of motor coordination including ataxia. The disease is characterized pathologically by loss of Purkinje cells (PCs) in the cerebellar …
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Identification of a suitable SNP for allele-specific silencing of the disease-causing gene in SCA1 patients in South Africa
Spinocerebellar ataxia 1 (SCA1) is part of a broader group of dominant neurodegenerative disorders caused by an unstable CAG trinucleotide repeat. There is no known cure for this disease and symptoms worsen progressively culminating in death. The disease-causing mutation in SCA1 occurs in the ATXN1 …
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A mechanism for SCA10 neurodegeneration due to intronic repeat expansion
Spinocerebellar ataxia type 10 (SCA10) is the second most prevalent ataxia in Mexico and Brazil. Phenotype of the disorder first occurs around the third to fourth decade, generally after procreation, resulting in a highly transmissible autosomal dominant disease. SCA10 begins as gait ataxia, but as …
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