scholarly journals The relationship between non-motor features and weight-loss in the premanifest stage of Huntington’s disease

PLoS ONE ◽  
2021 ◽  
Vol 16 (7) ◽  
pp. e0253817
Author(s):  
Wasiq Khan ◽  
Sundus Alusi ◽  
Hissam Tawfik ◽  
Abir Hussain
Keyword(s):  
Weight Loss ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Expert Knowledge ◽  
Strong Association ◽  
Machine Intelligence ◽  
Rule Mining ◽  
First Time ◽  
The Relationship ◽  
Relevant Factors

Weight-loss is an integral part of Huntington’s disease (HD) that can start before the onset of motor symptoms. Investigating the underlying pathological processes may help in the understanding of this devastating disease as well as contribute to its management. However, the complex behavior and associations of multiple biological factors is impractical to be interpreted by the conventional statistics or human experts. For the first time, we combine a clinical dataset, expert knowledge and machine intelligence to model the multi-dimensional associations between the potentially relevant factors and weight-loss activity in HD, specifically at the premanifest stage. The HD dataset is standardized and transformed into required knowledge base with the help of clinical HD experts, which is then processed by the class rule mining and self-organising maps to identify the significant associations. Statistical results and experts’ report indicate a strong association between severe weight-loss in HD at the premanifest stage and measures of certain cognitive, psychiatric functional ability factors. These results suggest that the mechanism underlying weight-loss in HD is, at least partly related to dysfunction of certain areas of the brain, a finding that may have not been apparent otherwise. These associations will aid the understanding of the pathophysiology of the disease and its progression and may in turn help in HD treatment trials.

Author response for "The relationship between lifestyle and serum neurofilament light protein in Huntington’s disease"

2020 ◽  
Author(s):  
Travis Cruickshank ◽  
Danielle Bartlett ◽  
Andrew Govus ◽  
Anthony Hannan ◽  
Wei‐Peng Teo ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Author Response ◽  
Neurofilament Light ◽  
The Relationship

scholarly journals The Utility of BDNF Detection in Assessing Severity of Huntington’s Disease

2021 ◽  
Vol 10 (21) ◽  
pp. 5181
Author(s):  
Klaudia Plinta ◽  
Andrzej Plewka ◽  
Krzysztof Pawlicki ◽  
Nikola Zmarzły ◽  
Magdalena Wójcik-Pędziwiatr ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Enzyme Linked Immunosorbent Assay ◽  
Functional Evaluation ◽  
Early Disease ◽  
Bdnf Level ◽  
Clinical Profiles ◽  
Clinical Pictures ◽  
Disease Stages ◽  
The Relationship

Brain-derived neurotrophic factor (BDNF) is involved in the survival and maturation of neurons, and also promotes and controls neurogenesis. Its levels are lowered in many neurodegenerative diseases, including Huntington’s disease (HD). Clinical pictures of HD can be very diverse, which makes it difficult to assess its severity; however, molecular markers may be helpful. The aim of the study was to determine the relationship between HD severity and the plasma BDNF concentration in HD patients. The study recruited 42 patients with diagnosed and genetically confirmed HD and 40 healthy volunteers. BDNF levels were determined in plasma with the enzyme-linked immunosorbent assay (ELISA). Correlations between BDNF levels and clinical profiles and HD severity were also investigated. The BDNF level was significantly lower in HD patients compared to the control. There was no correlation between the BDNF level and motor symptoms and cognitive impairment. In the early disease stages, BDNF levels were associated with a better neurological examination, independence, and functional evaluation, in contrast to later HD stages, where the correlations were inverse. Multidirectional correlations between parameters of saccadic disorders and the BDNF level do not allow for drawing a conclusion, whether or not there is a relationship between the severity of saccadic disorders and the BDNF concentration.

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.

Huntington's disease: prediction and prevention

1988 ◽  
Vol 319 (1194) ◽  
pp. 285-298 ◽  
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Late Onset ◽  
Predictive Test ◽  
Prediction And Prevention ◽  
Feasible Alternative ◽  
Dna Restriction ◽  
The Individual ◽  
First Time

The identification of a DNA restriction fragment length polymorphism closely linked to Huntington’s disease on the short arm of chromosome 4 has for the first time allowed presymptomatic prediction to be undertaken in first-degree relatives at risk. The late and variable onset of this dominantly inherited disorder makes such prediction a powerful and potentially valuable aid in genetic counselling, but in the absence of effective therapy there are serious ethical reservations concerning such a predictive test. The new developments have stimulated an active and informative debate among professionals and family members on whether and how predictive tests should be used. Guidelines have emerged which should be useful not only for Huntington’s disease, but for other serious late-onset neurogenetic disorders. Meanwhile, studies in Wales and elsewhere have not only confirmed the original linkage but have excluded multi-locus heterogeneity as a significant problem. Genetic prediction for the individual at risk remains critically dependent on a suitable family structure, present in only a minority of families in Wales. A more feasible alternative for most families is prenatal exclusion, which can allow risk prediction for a pregnancy without altering the situation for the person at risk. This approach has already been applied in Wales; the experience gained will be useful in full prediction, which is currently being introduced.

scholarly journals Intrajugular Vein Delivery of AAV9-RNAi Prevents Neuropathological Changes and Weight Loss in Huntington's Disease Mice

2014 ◽  
Vol 22 (4) ◽  
pp. 797-810 ◽  
Author(s):  
Brett D Dufour ◽  
Catherine A Smith ◽  
Randall L Clark ◽  
Timothy R Walker ◽  
Jodi L McBride
Keyword(s):  
Weight Loss ◽  
Huntington's Disease ◽  
Huntington’S Disease

The relationship between impairment of voluntary movements and cognitive impairment in Huntington’s disease

2009 ◽  
Vol 256 (10) ◽  
pp. 1629-1633 ◽  
Author(s):  
Jiří Klempíř ◽  
Olga Klempířová ◽  
Jan Štochl ◽  
Nataša Špačková ◽  
Jan Roth
Keyword(s):  
Cognitive Impairment ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Voluntary Movements ◽  
The Relationship
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