The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s Disease
There is a known negative association between cytosine–adenine–guanine (CAG) repeat length and the age of motor onset (AMO) in adult-onset Huntington’s Disease (AOHD). This relationship is less clear in patients with juvenile-onset Huntington’s disease (JOHD), however, given the rarity of this patie...
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| Format: | Article |
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MDPI AG
2020-08-01
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| Series: | Brain Sciences |
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| Online Access: | https://www.mdpi.com/2076-3425/10/9/575 |
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| author | Jordan L. Schultz Amelia D. Moser Peg C. Nopoulos |
| author_facet | Jordan L. Schultz Amelia D. Moser Peg C. Nopoulos |
| author_sort | Jordan L. Schultz |
| collection | DOAJ |
| description | There is a known negative association between cytosine–adenine–guanine (CAG) repeat length and the age of motor onset (AMO) in adult-onset Huntington’s Disease (AOHD). This relationship is less clear in patients with juvenile-onset Huntington’s disease (JOHD), however, given the rarity of this patient population. The aim of this study was to investigate this relationship amongst a relatively large group of patients with JOHD using data from the Kids-JOHD study. Additionally, we analyzed data from the Enroll-HD platform and the Predict-HD study to compare the relationship between CAG repeat length and AMO amongst patients with AOHD to that amongst patients with JOHD using linear regression models. In line with previous reports, the variance in AMO that was predicted by CAG repeat length was 59% (<i>p</i> < 0.0001) in the Predict-HD study and 57% from the Enroll-HD platform (<i>p</i> < 0.0001). However, CAG repeat length predicted 84% of the variance in AMO amongst participants from the Kids-JOHD study (<i>p</i> < 0.0001). These results indicate that there may be a stronger relationship between CAG repeat length and AMO in patients with JOHD as compared to patients with AOHD. These results provide additional information that may help to model disease progression of JOHD, which is beneficial for the planning and implementation of future clinical trials. |
| first_indexed | 2024-03-10T17:05:29Z |
| format | Article |
| id | doaj.art-0a7ce36277e04004b0595b760beeaac1 |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T17:05:29Z |
| publishDate | 2020-08-01 |
| publisher | MDPI AG |
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| series | Brain Sciences |
| spelling | doaj.art-0a7ce36277e04004b0595b760beeaac12023-11-20T10:49:11ZengMDPI AGBrain Sciences2076-34252020-08-0110957510.3390/brainsci10090575The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s DiseaseJordan L. Schultz0Amelia D. Moser1Peg C. Nopoulos2Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, IA 52242, USADepartment of Psychology and Neuroscience, University of Colorado Boulder, Boulder, CO 80309, USADepartment of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, IA 52242, USAThere is a known negative association between cytosine–adenine–guanine (CAG) repeat length and the age of motor onset (AMO) in adult-onset Huntington’s Disease (AOHD). This relationship is less clear in patients with juvenile-onset Huntington’s disease (JOHD), however, given the rarity of this patient population. The aim of this study was to investigate this relationship amongst a relatively large group of patients with JOHD using data from the Kids-JOHD study. Additionally, we analyzed data from the Enroll-HD platform and the Predict-HD study to compare the relationship between CAG repeat length and AMO amongst patients with AOHD to that amongst patients with JOHD using linear regression models. In line with previous reports, the variance in AMO that was predicted by CAG repeat length was 59% (<i>p</i> < 0.0001) in the Predict-HD study and 57% from the Enroll-HD platform (<i>p</i> < 0.0001). However, CAG repeat length predicted 84% of the variance in AMO amongst participants from the Kids-JOHD study (<i>p</i> < 0.0001). These results indicate that there may be a stronger relationship between CAG repeat length and AMO in patients with JOHD as compared to patients with AOHD. These results provide additional information that may help to model disease progression of JOHD, which is beneficial for the planning and implementation of future clinical trials.https://www.mdpi.com/2076-3425/10/9/575CAGjuvenile-onset Huntington’s diseasemotor onset |
| spellingShingle | Jordan L. Schultz Amelia D. Moser Peg C. Nopoulos The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s Disease Brain Sciences CAG juvenile-onset Huntington’s disease motor onset |
| title | The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s Disease |
| title_full | The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s Disease |
| title_fullStr | The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s Disease |
| title_full_unstemmed | The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s Disease |
| title_short | The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s Disease |
| title_sort | association between cag repeat length and age of onset of juvenile onset huntington s disease |
| topic | CAG juvenile-onset Huntington’s disease motor onset |
| url | https://www.mdpi.com/2076-3425/10/9/575 |
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