Search for dissertations about: "autosomal dominant spinocerebellar ataxia"

Showing result 1 - 5 of 6 swedish dissertations containing the words autosomal dominant spinocerebellar ataxia.

2. 1. Genetic and Molecular analysis of the Spinocerebellar ataxia type 7 (SCA7) disease gene

   Author : Jenni Jonasson; Monica Holmberg; Christine Van Broeckhoven; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Spinocerebellar ataxia; human genetics; linkage analysis; anticipation; CAG repeat expansion; founder effect; protein expression; ATXN7; Medical genetics; Medicinsk genetik;

   Abstract : Spinocerebellar ataxia type 7 (SCA7) is a hereditary neurodegenerative disorder affecting the cerebellum, pons and retina. SCA7 patients present with gait ataxia and visual impairment as the main symptoms. READ MORE

4. 2. Studies of polyglutamine repeats and their biology in relation to disease

   Author : Cecilia Zander; Karolinska Institutet; Karolinska Institutet; []
   Keywords : trinucleotide repeat; polyglutamine; autosomal dominant spinocerebellar ataxia; repeat expansion detection; spastic paraplegia; autophagy; inclusions;

   Abstract : Polyglutamine repeat expansions of the CAG/CTG type frequently lead to disease characterized by progressive neuronal dysfunction. These diseases typically begins in mid-life and result in severe neurodegeneration. To a certain extent they present with similar features and probably share a common mechanism of pathogenesis. READ MORE

5. 3. Genomic studies of expanded trinucleotide repeats : focus on neuropsychiatric disorders

   Author : Kerstin Lindblad; Karolinska Institutet; Karolinska Institutet; []
   Keywords : affective disorder; CTG18.1; DNA; ERDA1; expanded trinucleotide repeats; gene isolation; mutation; Parkinson s disease; repeat expansion detection; repeat instability; spinocerebellar ataxia;

   Abstract : In a number of neurological and neuropsychiatric disorders, a worsening of the disease phenotype from one generation to the next has been linked to expanded trinucleotide repeat sequences that increase in size upon transmission. The clinical phenomenon of an earlier age of onset or a more severe phenotype in later generations of a family has been termed anticipation. READ MORE

6. 4. Study of molecular mechanism(s) underlying neurodegeneration in SCA7 disease : Role of NOX enzymes and oxidative stress

   Author : Abiodun Ajayi; Anna-Lena Ström; Boris Zhivotosky; Bengt Mannervik; Stockholms universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; neurodegeneration; polyglutamine; oxidative stress; metabolism; NADPH oxidase; neurokemi med molekylär neurobiologi; Neurochemistry with Molecular Neurobiology;

   Abstract : Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide expansion in the SCA7/ATXN7 gene resulting in progressive ataxia and retinal dystrophy. SCA7 belongs to a group of neurodegenerative disorders called polyglutamine (polyQ) diseases, that share the common feature of glutamine tract expansions within otherwise unrelated proteins. READ MORE

7. 5. Molecular mechanism(s) underlying neurodegeneration in SCA7 disease : Role of NOX enzymes and oxidative stress

   Author : Abiodun Ajayi; Anna-Lena Ström; Ana Cristina Rego; Stockholms universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; neurodegeneration; oxidative stress; NOX; metabolism; p53; neurokemi med molekylär neurobiologi; Neurochemistry with Molecular Neurobiology;

   Abstract : Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide expansion in the SCA7 gene resulting in progressive ataxia and retinal dystrophy. SCA7 belongs to a group of neurodegenerative disorders called polyglutamine (polyQ) diseases, that share the common feature of glutamine tract expansions within otherwise unrelated proteins. READ MORE