Journal article
Longitudinal Clinical and Biological Characteristics in Juvenile-Onset Huntington's Disease
Movement disorders, Vol.38(1), pp.113-122
01/2023
DOI: 10.1002/mds.29251
PMCID: PMC9851979
PMID: 36318082
Abstract
BACKGROUNDJuvenile-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.
Details
- Title: Subtitle
- Longitudinal Clinical and Biological Characteristics in Juvenile-Onset Huntington's Disease
- Creators
- Jordan L Schultz - University of IowaDouglas R Langbehn - Roy J. and Lucille A. Carver College of MedicineHend M Al-Kaylani - Roy J. and Lucille A. Carver College of MedicineEllen van der Plas - Roy J. and Lucille A. Carver College of MedicineTimothy R Koscik - Roy J. and Lucille A. Carver College of MedicineEric A Epping - Roy J. and Lucille A. Carver College of MedicinePatricia B Espe-Pfeifer - Roy J. and Lucille A. Carver College of MedicineErin P Martin - Roy J. and Lucille A. Carver College of MedicineDavid J Moser - Roy J. and Lucille A. Carver College of MedicineVincent A Magnotta - Roy J. and Lucille A. Carver College of MedicinePeggy C Nopoulos - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Movement disorders, Vol.38(1), pp.113-122
- DOI
- 10.1002/mds.29251
- PMID
- 36318082
- PMCID
- PMC9851979
- NLM abbreviation
- Mov Disord
- ISSN
- 0885-3185
- eISSN
- 1531-8257
- Grant note
- DOI: 10.13039/100005725, name: CHDI Foundation; DOI: 10.13039/100000025, name: National Institute of Mental Health, award: P50‐HD103556; DOI: 10.13039/100000065, name: National Institute of Neurological Disorders and Stroke, award: K23‐NS117736, R01‐NS055903, R01‐NS094387; DOI: 10.13039/100000098, name: NIH Clinical Center, award: S10‐OD025025
- Language
- English
- Electronic publication date
- 11/01/2022
- Date published
- 01/2023
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Neurology; Radiology; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Pharmacy Practice and Science; Medicine Administration
- Record Identifier
- 9984309659702771
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