Neurodegenerative Diseases
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An Introduction to Neurodegenerative Diseases
Huntington’s Disease (HD) is a rare, incurable, inherited and ultimately fatal neurodegenerative disorder characterised by chorea, ataxia, dysphagia, cognitive and behavioural changes. Current therapies offer only symptomatic relief, and many are associated with significant side effects, though pridopidine, a sigma-1-receptor (S1R) agonist has shown potential for both symptomatic treatment and disease modifying effects in HD. Advances in our understanding of the pathogenesis of HD have highlighted the importance of DNA repair genes, and novel approaches, such as the antisense therapy tominersen and the oral agent branaplam, are targeting the mutant huntingtin (mHTT) protein and the HTT gene. However, no disease-modifying therapy is yet approved for HD.
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Huntington’s disease (HD) is a neurodegenerative disease inherited in an autosomal dominant manner. It is caused by an expansion of cytosine, adenine, guanine (CAG) repeats within the huntingtin (HTT) gene, which is located on chromosome 4. This pathological expansion of ...
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