The clinical, imaging and biological features of psychosis in Han Chinese patients with Huntington's disease.

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. It is of great significance to explore the clinical, imaging and biological characteristics of HD patients with psychosis. A total of 118 Han Chinese patients with HD confirmed by Huntingtin genetic testing were recruited during 2013-2020. They were assessed by Unified Huntington's Disease Rating Scale (UHDRS) and followed up in an average of 34 months by telephone or clinical visits. Psychosis was determined by the presence of delusions or hallucinations using UHDRS-Problem Behavior Assessment. Data of magnetic resonance imaging (n = 28) and serum neurofilament light chain (NfL, n = 28) were collected in some patients. Among 118 patients (mean age 46.0 years, SD 12.0; female 53.5%), the 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, the lateral ventricle volume was larger in patients with psychosis compared with patients without psychosis (p = 0.0013) while there was no difference in NfL levels between two groups. NfL levels of patients with psychosis were negatively correlated with caudate volumes (r = -0.54, p = 0.044) and white matter volumes (r = -0.57, p = 0.035). In summary, HD 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 before adverse outcomes occur.