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Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
Published on: February 27, 2018
Progressive Huntington's disease with neuropsychiatric predominance across fragmented care settings
Gregory Michael Tomlinson1, Manan Gupta2,3,4
1Osteopathic Medicine, University of the Incarnate Word School of Osteopathic Medicine, San Antonio, Texas, USA gtomlins@student.uiwtx.edu.
None:
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.
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