(087) Hunting for Huntington’s: behavioral changes in a patient with a family history of Huntington’s Disease

Abstract: Background/Significance
Prompt assessment and treatment of neuropsychiatric symptoms remains challenging in psychiatric practice. It is crucial to maintain a broad differential for patients with a family history of genetic disorders who present with atypical psychomotor abnormalities (Govert F, and Chneider SA, 2013).

Clinical Case
NJ, a 49-year-old African American male, presented to the Atlanta VA for worsening depression and an interrupted suicide attempt. He was admitted for psychiatric stabilization and diagnosed with major depressive disorder (MDD). A family history of Huntington’s Disease (HD) was noted.

NJ was next evaluated five years later when he presented reporting changes in memory, insomnia, and weight loss. His family described strange behaviors, such as speaking to his dead mother. His Mental Status Examination (MSE) was notable for an anxious appearance, poor eye contact, mumbling speech, minimal insight, poor judgment, yet intact neurological exam. Diagnoses included MDD with psychosis and unspecified anxiety. HD testing was not performed.

Approximately one year later, NJ presented with disorganized thinking, poor oral intake, and a recent report of pacing the street naked. His MSE was positive for immobility, withdrawal, verbigeration, and thought blocking. NJ was diagnostically evaluated for a primary psychotic disorder along with catatonia. Neurological evaluation along with general medical workup were not revealing for etiology. Clonazepam was titrated to 3 mg TID for catatonia. HD testing was negative for CAG repeats. Testing for related genetic syndromes was positive for 52 repeats within the JPH3 gene, confirming Huntington Disease-Like Type 2 (HDL2).

At the index presentation, NJ was seen for worsening cognition and requiring assistance with ADLs. Treatment and stabilization were achieved with 8 sessions of ECT for catatonia and mood along with valproate 750 mg BID for mood/calm, lorazepam 2 mg TID for catatonia, haloperidol 10 mg BID for psychosis, and duloxetine 40 mg daily for depression. He was determined not to have decisional capacity due to Major Neurocognitive Disorder secondary to HDL2. Multidisciplinary approach including family and palliative care was utilized for determining goals of care. NJ was discharged to structured setting with 24-hr care.

Discussion
Clinical findings of progressively worsening mental and behavioral functioning make presence of personal characteristics such as age, ethnic background, and family history very relevant in overall management (Govert F, and Chneider SA, 2013).

Conclusion
For patients with a strong family history of HD who present with progressive neuropsychiatric symptom burden without obvious choreoathetoid movements and negative HD genetic testing, strong consideration should be made toward HDL syndromes and related genetic disorders.

References
Govert F, and Chneider SA. Huntington’s disease and Huntington’s disease-like syndromes: an overview. Curr Opin Neurol 2013; 26:420-427.