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Recent advances in Huntington's disease

Niemelä V, Petersén Å, Loutfi G, Svenningsson P and Paucar M.

Läkartidningen. 2020;117:FU7H


Huntington's disease is an autosomal dominant neurodegenerative disease that leads to premature death. The disease is caused by a pathological CAG triplet expansion in the huntingtin gene. The disease is most common in Western populations, with onset in middle age and causing progressive motor, cognitive, and psychiatric symptoms. Currently, only symptomatic treatment is provided, but new molecular technologies may allow treatments reducing levels of mutated huntingtin.