Longitudinal Clinical and Biological Characteristics in Juvenile-Onset Huntington's Disease.

BACKGROUND: Juvenile-onset Huntington's disease (JOHD) is a rare form of Huntington's disease (HD) characterized by symptom onset before the age of 21 years. Observational data in this cohort is lacking. OBJECTIVES: Quantify measures of disease progression for use in clinical trials of patients with JOHD. METHODS: Participants who received a motor diagnosis of HD before the age of 21 were included in the Kids-JOHD study. The comparator group consisted of children and young adults who were at-risk for inheriting the genetic mutation that causes HD, but who were found to have a CAG repeat in the non-expanded range (gene non-expanded [GNE]). RESULTS: Data were obtained between March 17, 2006, and February 13, 2020. There were 26 JOHD participants and 78 GNE participants who were comparable on age (16.03 vs. 14.43, respectively) and sex (53.8% female vs. 57.7% female, respectively). The mean annualized decrease in striatal volume in the JOHD group was -3.99% compared to -0.06% in the GNE (mean difference [MD], -3.93%; 95% confidence intervals [CI], [-4.98 to -2.80], FDR < 0.0001). The mean increase in the Unified Huntington's Disease Rating Scale Total Motor Score per year in the JOHD group was 7.29 points compared to a mean decrease of -0.21 point in the GNE (MD, 7.5; 95% CI, [5.71-9.28], FDR < 0·0001). CONCLUSIONS: These findings demonstrate that structural brain imaging and clinical measures in JOHD may be potential biomarkers of disease progression for use in clinical trials. Collaborative efforts are required to validate these results in a larger cohort of patients with JOHD. © 2022 International Parkinson and Movement Disorder Society.

Pre- and post-electroconvulsive therapy multidomain cognitive assessment in psychotic depression: relationship to premorbid abilities and symptom improvement.

OBJECTIVES: Cognitive changes have been reported in patients after electroconvulsive therapy (ECT), but few studies have investigated post-ECT changes across multiple cognitive domains. Because cognitive dysfunction is presumed to be more salient in psychotic depression, we propose a brief pre-ECT multidomain cognitive assessment battery, assessing neurocognitive function in this population before and after ECT. We also compared performance to estimated premorbid levels and determined if neuropsychological functioning was related to symptom improvement. METHODS: Twenty participants with psychotic depression (12 females, 8 males) undergoing ECT for severe depression received the repeatable battery for the assessment of neuropsychological status (RBANS) and additional tasks. The wide range achievement test reading test provided an estimate of premorbid intellectual functioning. Depressive symptoms were assessed with the Hamilton Depression Scale-28, whereas negative and positive symptoms were assessed with the Scale for Assessing Negative and Positive Symptoms. RESULTS: There was a significant improvement in depressive symptoms with most measures of cognitive function showing net gains. When cognitive performances were compared with estimated premorbid abilities, findings indicated significant movement toward normalization in overall RBANS score, particularly involving the language index and attention index. Considered individually, 6 (30%) participants showed pre-ECT cognitive dysfunction (RBANS total score