Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease involving motor, cognitive and psychiatric disturbances. HD patients with psychosis symptoms usually have bad prognosis. Exploring clinical, imaging and biological features of psychosis in patients with HD is of importance. A total of 118 Han Chinese patients with HD confirmed by Huntingtin genetic testing were recruited during 2013 to 2020. They were assessed by Unified Huntington’s Disease Rating Scale (UHDRS) and followed up in an average of 34 months by telephone. Psychosis was determined by the presence of delusions or hallucinations using UHDRS-Problem Behavior Assessment. Data of magnetic resonance imaging (n=28), serum neurofilament light chain (NfL, n=15) and Positive and Negative Syndrome Scale (PANSS, n=7) were collected in some patients. Of 118 patients (mean age 46.0 years, SD 12.0; female 53.5%), frequency of psychosis was 14.4% (n=17) in the cross-sectional analysis and 17.8% (n=21) in the longitudinal observation. Probands with psychosis were predominantly female (82.3%). They exhibited worse motor, cognitive, behavioral and functional performances compared with patients without psychosis. Furthermore, patients with psychosis had larger lateral ventricles compared with those without psychosis (p=0.0013). In addition, PANSS score showed negative correlations with caudate, putamen volumes (r=-0.85, p=0.014; r=-0.89, p=0.006), positive correlations with lateral ventricle volumes (r=0.60, p=0.010), but no association with NfL concentration. In summary, patients with psychosis had distinct clinical, imaging and biological features. These features might help clinicians to identify psychosis in HD patients early and provide protective interventions for bad outcomes caused by psychosis.
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