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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.
Insights
This case study shows how Huntington's disease (HD) can progress from psychiatric symptoms to severe motor impairment. Continuous specialist care is crucial for managing this neurodegenerative disorder.
Area of Science:
- Neurology
- Neuroscience
- Psychiatry
Background:
- Huntington's disease (HD) presents with motor and neuropsychiatric symptoms, but early stages may feature prominent psychiatric issues.
- A case of a man in his 50s with diagnosed HD and family history illustrates this presentation.
Purpose of the Study:
- To describe the clinical evolution of Huntington's disease from neuropsychiatric-predominant symptoms to advanced motor deficits.
- To emphasize the importance of consistent neurological care in managing progressive neurodegenerative diseases.
Main Methods:
- Longitudinal case observation and serial neurological examinations.
- Assessment of motor function, cognitive status (set-shifting, verbal fluency), and psychiatric manifestations.
- Documentation of disease progression within the context of fragmented healthcare access.
Main Results:
- The patient initially presented with severe psychiatric symptoms (psychosis, suicide attempt) and minimal motor findings.
- Over time, clear motor progression occurred, including gait abnormalities, weakness, choreiform movements, and wheelchair dependence.
- Cognitive deficits, including impaired set-shifting and reduced verbal fluency, were consistent with the HD phenotype.
Conclusions:
- Huntington's disease can evolve from a neuropsychiatric-dominant presentation to significant motor impairment.
- Fragmented continuity of neurologic care can complicate management and potentially impact disease progression.
- Longitudinal specialist follow-up is essential for effective management of progressive neurodegenerative conditions like HD.
Abstract:
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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