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• W4233251331 abstract "Huntington Disease is a neurodegenerative disease caused by a single mutated gene on chromosome 4 that encodes for the huntingtin protein. Huntingtin is believed to function as a regulator of nervous system development and protein trafficking. The normal huntingtin gene contains a trinucleotide (CAG) sequence that encodes for glutamine and therefore adds a variable number of glutamines to the huntingtin protein. In the mutated gene, this stretch is expanded. Once more than 39 CAG sequences are present, the resulting mutated protein impairs neuronal health and has a tendency to fold incorrectly and accumulate as inclusion bodies that also contain other proteins that regulate transcription, protein synthesis, folding, and degradation. The disease primarily affects cortical and striatal neurons involved in the control of voluntary movement, motor planning, and cognition. As these neurons die, patients develop abnormal, involuntary dance-like body movements called chorea. In addition, diffuse neuronal loss throughout the cortex and frontal lobe causes emotional and cognitive dysfunction. The disease is inherited in an autosomal dominant fashion. If 36–39 repeats are present, disease may or may not develop. If 40 or more repeats are present, all affected individuals develop disease. In those instances, the likelihood of a child also developing the disease is at least 50% if one of the parents carries the mutation. The disease is universally fatal, causing death within 15–20 years of diagnosis, and no disease-modifying treatments currently exist. However, genetic testing allows families to determine the risk of having offspring affected by disease. Interestingly, within families with an affected parent or relative, the choice to be tested is often not pursued since no treatment exists and because of fear that this will upset the family dynamics." @default.
• W4233251331 created "2022-05-12" @default.
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• W4233251331 date "2021-01-01" @default.
• W4233251331 modified "2023-09-26" @default.
• W4233251331 title "Huntington Disease" @default.
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• W4233251331 doi "https://doi.org/10.1016/b978-0-12-821228-8.00007-x" @default.
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