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DOI 10.1136/bcr-2026-273348

Медицинская библиотека · BMJ case reports · 2026

Progressive Huntington's disease with neuropsychiatric predominance across fragmented care settings.

Tomlinson Gregory Michael, Gupta Manan

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Аннотация

Huntington's disease (HD) is characterised by progressive motor impairment and neuropsychiatric dysfunction; however, early presentations may be dominated by psychiatric symptoms. We describe a man in his 50s with a documented diagnosis of HD established several years prior and a strong family history, whose early examinations showed minimal motor findings despite severe psychiatric manifestations including a prior suicide attempt and psychosis. Over subsequent years, serial examinations documented clear motor progression to abnormal gait, weakness and prominent choreiform movements, with intermittent wheelchair use. Bedside cognitive examination during incarceration revealed impaired set-shifting and markedly reduced phonemic and semantic verbal fluency, consistent with the HD cognitive phenotype. Neurology consultation was offered during hospitalisation but declined, and outpatient referral was interrupted by incarceration. During incarceration, severe choreiform movements and impaired insight were documented, with fluctuation in motor severity across settings. This case illustrates the evolution from neuropsychiatric-predominant HD to advanced motor involvement in the context of fragmented continuity of neurologic care, highlighting the importance of longitudinal specialist follow-up in progressive neurodegenerative disease.

Для цитирования: Tomlinson Gregory Michael, Gupta Manan. Progressive Huntington's disease with neuropsychiatric predominance across fragmented care settings.. BMJ case reports. 2026. DOI: 10.1136/bcr-2026-273348.

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