biostudies-literatureSchultz JLNational Institute of Neurological Disorders and StrokeNICHD NIH HHSNIMH NIH HHSNIH Clinical CenterNINDS NIH HHSNational Institute of Mental HealthCHDI FoundationWellcome TrustNIH HHS113-122https://www.ebi.ac.uk/biostudies/studies/S-EPMC9851979biostudies-literatureUnknown38(1)<h4>Background</h4>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.<h4>Objectives</h4>Quantify measures of disease progression for use in clinical trials of patients with JOHD.<h4>Methods</h4>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]).<h4>Results</h4>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).<h4>Conclusions</h4>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.Movement disorders : official journal of the Movement Disorder SocietyLongitudinal Clinical and Biological Characteristics in Juvenile-Onset Huntington's Disease.PMC9851979S10‐OD025025K23‐NS117736R01-NS094387R01‐NS055903R01‐NS094387K23 NS117736R01 NS055903R01 NS094387P50 HD103556S10 OD025025P50‐HD103556U01 NS055903P50-HD103556Schultz JLMagnotta VAvan der Plas EEspe-Pfeifer PBLangbehn DREpping EANopoulos PCMoser DJMartin EPAl-Kaylani HMKoscik TRfalseLongitudinal Clinical and Biological Characteristics in Juvenile-Onset Huntington's Disease.<h4>Background</h4>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.<h4>Objectives</h4>Quantify measures of disease progression for use in clinical trials of patients with JOHD.<h4>Methods</h4>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]).<h4>Results</h4>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).<h4>Conclusions</h4>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.2023-01-01T00:00:00Z2023 Jan2025-04-04T03:01:23.165Z2025-04-04T03:01:23.165ZS-EPMC98519793631808210.1002/mds.29251