Caudate glucose hypometabolism in a subject carrying an unstable allele of intermediate CAG33 repeat length in the Huntington's disease gene

2011 ◽  
Vol 26 (5) ◽  
pp. 925-927 ◽  
Author(s):  
Ferdinando Squitieri ◽  
Mouna Esmaeilzadeh ◽  
Andrea Ciarmiello ◽  
Joseph Jankovic
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene ◽  
Repeat Length ◽  
Glucose Hypometabolism ◽  
Unstable Allele

Normal CAG repeat length in the Huntington's disease gene in senile chorea

Neurology ◽  
1994 ◽  
Vol 44 (11) ◽  
pp. 2183-2183 ◽  
Author(s):  
H. Shinotoh ◽  
D. B. Calne ◽  
B. Snow ◽  
M. Hayward ◽  
B. Kremer ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene ◽  
Repeat Length ◽  
Cag Repeat

scholarly journals Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely.

1991 ◽  
Vol 28 (8) ◽  
pp. 520-522 ◽  
Author(s):  
L Barron ◽  
A Curtis ◽  
A E Shrimpton ◽  
S Holloway ◽  
H May ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene

scholarly journals Loss of extra-striatal phosphodiesterase 10A expression in early premanifest Huntington's disease gene carriers

2016 ◽  
Vol 368 ◽  
pp. 243-248 ◽  
Author(s):  
Heather Wilson ◽  
Flavia Niccolini ◽  
Salman Haider ◽  
Tiago Reis Marques ◽  
Gennaro Pagano ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene ◽  
Gene Carriers ◽  
Phosphodiesterase 10A

Psychopathology in Verified Huntington’s Disease Gene Carriers

2007 ◽  
Vol 19 (4) ◽  
pp. 441-448 ◽  
Author(s):  
E. van Duijn ◽  
E.M. Kingma ◽  
R.C. van der Mast
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene ◽  
Gene Carriers

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.

Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene

1994 ◽  
Vol 3 (1) ◽  
pp. 73-78 ◽  
Author(s):  
H. Hummerich ◽  
S. Baxendale ◽  
R. Mott ◽  
S. F.Kirby ◽  
M. E.MacDonald ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene ◽  
Trinucleotide Repeat ◽  
Repeat Sequences
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