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Huntington's Disease Pathway


HD (Huntington's disease) is an autosomal dominant monogenic neurodegenerative disorder caused by an expanded CAG repeat in the HTT (huntingtin) gene, resulting in a mHTT (mutant HTT) protein carrying an expanded polyQ (polyglutamine) repeat on exon1. HD is characterised primarily by motor disturbances, but is commonly accompanied by cognitive impairments and psychiatric abnormalities. Progressive striatal neurodegeneration is a hallmark of HD that can be identified prior to motor symptom onset, however there is evidence ...




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