scholarly journals The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s Disease

2020 ◽  
Vol 10 (9) ◽  
pp. 575 ◽  
Author(s):  
Jordan L. Schultz ◽  
Amelia D. Moser ◽  
Peg C. Nopoulos
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Age Of Onset ◽  
Repeat Length ◽  
Cag Repeat ◽  
Linear Regression Models ◽  
Juvenile Onset ◽  
Additional Information ◽  
Using Data ◽  
The Relationship

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% (p < 0.0001) in the Predict-HD study and 57% from the Enroll-HD platform (p < 0.0001). However, CAG repeat length predicted 84% of the variance in AMO amongst participants from the Kids-JOHD study (p < 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.

The Relationship Between CAG Repeat Length and Age of Onset Differs for Huntington's Disease Patients with Juvenile Onset or Adult Onset

2006 ◽  
Vol 71 (3) ◽  
pp. 295-301 ◽  
Author(s):  
J. Michael Andresen ◽  
Javier Gayán ◽  
Luc Djoussé ◽  
Simone Roberts ◽  
Denise Brocklebank ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Age Of Onset ◽  
Repeat Length ◽  
Cag Repeat ◽  
Adult Onset ◽  
Juvenile Onset ◽  
The Relationship

The relationship between CAG repeat length and clinical progression in Huntington's disease

2008 ◽  
Vol 23 (9) ◽  
pp. 1223-1227 ◽  
Author(s):  
Bernard Ravina ◽  
Megan Romer ◽  
Radu Constantinescu ◽  
Kevin Biglan ◽  
Alicia Brocht ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Repeat Length ◽  
Cag Repeat ◽  
Clinical Progression ◽  
The Relationship

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

1993 ◽  
Vol 4 (4) ◽  
pp. 398-403 ◽  
Author(s):  
Susan E. Andrew ◽  
Y. Paul Goldberg ◽  
Berry Kremer ◽  
Håkan Telenius ◽  
Jane Theilmann ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical Features ◽  
Repeat Length ◽  
Cag Repeat ◽  
The Relationship

scholarly journals A-095 Processing Speed Indicators in Juvenile Huntington’s Disease: Assessing CAG Repeat, Age of Onset, and Mood

2020 ◽  
Vol 35 (6) ◽  
pp. 888-888
Author(s):  
Goecke N ◽  
Dawson D ◽  
Choate A ◽  
Boress K ◽  
Espe-Pfeifer P ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Symptom Onset ◽  
Processing Speed ◽  
Age Of Onset ◽  
Depressive Mood ◽  
Repeat Length ◽  
Cag Repeat ◽  
Age At Diagnosis ◽  
Juvenile Huntington’S Disease

Abstract Objective In adult onset Huntington’s Disease (HD), processing speed deficits and depression can be detected in the prodromal stages. These factors, along with CAG repeat length, may be predictive of age of symptom onset. However, less is known about the relationship between the aforementioned factors for patients diagnosed with Juvenile Huntington’s Disease (JHD). The current study aimed to investigate the relationships between age of symptom onset, CAG repeat, processing speed, and mood to improve prediction of symptom manifestation for JHD patients. Method Data was analyzed from the Kids HD study and included 30 participants (age at diagnosis M = 13.6, SD = 5.4, CAG repeat mean = 69, SD = 16). Bivariate partial correlations, independent t-tests, and regression analyses examined differences in processing speed across CAG repeat, age of onset, and depressive symptomology. Results CAG repeat length significantly predicted the natural log of age at diagnosis, β = −.59, t(25) = −3.59, p &lt; .01, and significantly explained variance in the natural log of age at diagnosis, R2 = .35, F(1, 25) = 12.86, p &lt; .01. Finally, results indicated that CAG repeat length also predicted processing speed abilities when controlling for depressed mood symptomology, R2 = .39, F(3,24) = 5.18, p &lt; .01. Conclusion CAG repeat length holds predictive power for the age of diagnosis and for processing speed, even when accounting for covariate depressive mood indicators. Overall, results indicate evidence of impacted processing speed abilities given expansive CAG repeat numbers. This is consistent with a subcortical neurodegenerative process, such as HD.

scholarly journals Behavioral Deficits in Juvenile Onset Huntington’s Disease

2020 ◽  
Vol 10 (8) ◽  
pp. 543
Author(s):  
Kathleen E. Langbehn ◽  
Ashley M. Cochran ◽  
Ellen van der Plas ◽  
Amy L. Conrad ◽  
Eric Epping ◽  
...  
Keyword(s):  
Young Adults ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Cag Repeat ◽  
Self Report ◽  
Cag Repeats ◽  
Group Differences ◽  
Linear Regression Models ◽  
Juvenile Onset ◽  
Quantitative Evidence

Reports of behavioral disturbance in Juvenile-Onset Huntington’s Disease (JOHD) have been based primarily on qualitative caregiver reports or retrospective medical record reviews. This study aims to quantify differences in behavior in patients with JOHD using informant- and self-report questionnaires. Informants of 21 children/young adults (12 female) with JOHD and 115 children/young adults (64 female) with a family history of Huntington’s Disease, but who did not inherit the disease themselves (Gene-Non-Expanded; GNE) completed the Behavior Rating Inventory of Executive Function (BRIEF) and the Pediatric Behavior Scale (PBS). Mixed linear regression models (age/sex adjusted) were conducted to assess group differences on these measures. The JOHD group had significantly higher scores, indicating more problems, than the GNE group on all BRIEF subscales, and measures of Aggression/Opposition and Hyperactivity/Inattention of the PBS (all p < 0.05). There were no group differences in Depression/Anxiety. Inhibit, Plan/Organize, Initiate, and Aggression/Opposition had significant negative correlations with Cytosine-Adenine-Guanine (CAG) repeat length (all p < 0.05) meaning that individuals with higher CAG repeats scored lower on these measures. There was greater discrepancy between higher informant-vs. lower self-reported scores in the JOHD group, supporting the notion of lack of insight for the JOHD-affected group. These results provide quantitative evidence of behavioral characteristics of JOHD.

scholarly journals Linking SNPs to CAG repeat length in Huntington's disease patients

2008 ◽  
Vol 5 (11) ◽  
pp. 951-953 ◽  
Author(s):  
Wanzhao Liu ◽  
Lori A Kennington ◽  
H Diana Rosas ◽  
Steven Hersch ◽  
Jang-Ho Cha ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Repeat Length ◽  
Cag Repeat
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