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Recurrent psychotic symtoms over several years were caused by Huntington'sdisease

Breimer P, Petersén Å and Widner H.

Lakartidningen. 2021;118:20126. (2021)


Huntington disease (HD) is a progressive neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. It is inherited in an autosomal dominant fashion with full penetrance. Around 15% of cases arise from spontaneous expansion of the CAG repeat. The clinical presentation includes involuntary movements (chorea) with dysarthria and dysphagia as well as cognitive and psychiatric symptoms and weight loss. The combination of these symptoms and signs should lead to further investigations regarding HD, even in absence of a known family history. Psychiatric and cognitive symptoms often manifest around 15 years before the motor disorder and the disease leads to premature death. HD is likely underdiagnosed as many individuals present with psychiatric and behavioral problems for a long time. No disease modifying treatment is available today but there are a number of clinical trials ongoing aiming at slowing the disease process. The successful progress of these trials will give urgency to correct diagnosis of HD.