Longitudinal Clinical and Biological Characteristics in Juvenile-Onset Huntington's Disease. - National Genomics Data Center (CNCB-NGDC)

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

Jordan L Schultz, Douglas R Langbehn, Hend M Al-Kaylani, Ellen van der Plas, Timothy R Koscik, Eric A Epping, Patricia B Espe-Pfeifer, Erin P Martin, David J Moser, Vincent A Magnotta, Peggy C Nopoulos

Author Information

Jordan L Schultz: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA. ORCID
Douglas R Langbehn: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA. ORCID
Hend M Al-Kaylani: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA.
Ellen van der Plas: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA.
Timothy R Koscik: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA.
Eric A Epping: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA.
Patricia B Espe-Pfeifer: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA.
Erin P Martin: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA.
David J Moser: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA.
Vincent A Magnotta: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA.
Peggy C Nopoulos: Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA.

PMID: 36318082 DOI: 10.1002/mds.29251

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.

juvenile-onset Huntington disease longitudinal neuroimaging prospective

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S10 OD025025/NIH HHS
R01-NS094387/NINDS NIH HHS
P50-HD103556/NIMH NIH HHS
R01 NS094387/NINDS NIH HHS
K23 NS117736/NINDS NIH HHS
R01 NS055903/NINDS NIH HHS
P50 HD103556/NICHD NIH HHS
/Wellcome Trust
U01 NS055903/NINDS NIH HHS

Child

Young Adult

Humans

Female

Adult

Male

Huntington Disease

Brain

Disease Progression

Biomarkers

Movement Disorders

Longitudinal Studies

Biomarkers

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

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