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T. White

Huntington’s disease

Huntington’s disease

Schlüsselwörter Huntington’s disease; ICD 10: G10; Huntington’s chorea
Keywords Huntington’s disease; ICD 10: G10; Huntington’s chorea
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Summary

Huntington’s disease (HD) is a progressive neurodegenerative disease of the central nervous system, caused by an assumed toxic gain-of-function mutation of Huntington’s gene on chromosome 4. This mutation, an increase in the number of cytosine-adenine-guanine (CAG) trinucleotide repeats in the gene’s coding portion, creates a polyglutamine region in Huntington’s protein. This region alters the protein’s function and is believed to lead to neuronal degeneration, particularly affecting the basal ganglia. More than 40 CAG repeats produce a fully penetrant disease. HD is inherited in an anticipatory autosomal dominant pattern; i.e. the number of CAG repeats can increase during spermatogenesis, leading to an earlier onset of the disease and more rapid progression. Genetic anticipation in HD is therefore a paternally inherited feature. The effects of Huntington’s disease include uncontrollable choreoathetoid movements, dystonia, dysphagia, dysarthria, and psychiatric disease including depression, mania, obsessive-compulsive disorder, and dementia. The disease is progressive, and the time from onset to death ranges from 10 to 30 years. 

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