Laeknabladid. 2026 May;112(5):216-222. doi: 10.17992/lbl.2026.05.891.
ABSTRACT
Huntington’s disease (HD) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive movement disturbances, psychiatric symptoms, and cognitive impairment. The disease is caused by an increased number of repeats of the cytosine-adenine-guanine (CAG) base sequence in the HTT gene, leading to the production of a huntingtin protein with toxic gain-of-function properties and the accumulation of protein aggregates in neurons, resulting in neurodegeneration. The prevalence of HD has previously been reported to be low in Iceland compared with other European countries. However, recent studies indicate an increased prevalence, likely due to improved diagnostic capabilities and greater use of genetic testing. Diagnosis is based on clinical evaluation, family history, and confirmation by genetic testing. Currently, no disease-modifying treatment is available, but symptomatic management and a multidisciplinary approach can improve patients’ functional abilities and quality of life. This review article discusses the epidemiology, genetics, clinical manifestations, diagnosis, and treatment of Huntington’s disease, with particular emphasis on recent Icelandic research findings and future prospects.
PMID:42048072 | DOI:10.17992/lbl.2026.05.891
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