Clinical markers of early disease in persons near onset of Huntington's disease

Neurology ◽  
2001 ◽  
Vol 57 (4) ◽  
pp. 658-662 ◽  
Author(s):  
J. S. Paulsen ◽  
H. Zhao ◽  
J. C. Stout ◽  
R. R. Brinkman ◽  
M. Guttman ◽  
...  
2021 ◽  
Vol 10 (21) ◽  
pp. 5181
Author(s):  
Klaudia Plinta ◽  
Andrzej Plewka ◽  
Krzysztof Pawlicki ◽  
Nikola Zmarzły ◽  
Magdalena Wójcik-Pędziwiatr ◽  
...  

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.


2021 ◽  
Vol 11 (7) ◽  
pp. 838
Author(s):  
Sarah L. Mason ◽  
Miriam Schaepers ◽  
Roger A. Barker

Huntington’s disease starts slowly and progresses over a 15–20 year period. Motor changes begin subtly, often going unnoticed by patients although they are typically visible to those close to them. At this point, it is the early non-motor problems of HD that arguably cause the most functional impairment. Approximately 65% of gene carriers will experience a reduction in their occupational level, and just under half will feel unable to manage their finances independently before a clinical diagnosis is made. Understanding what drives this impairment in activities of daily living is the key to helping people with HD to live more independently for longer, especially in early disease. Early cognitive decline is likely to play a contributory factor although few studies have looked directly at this relationship. Recently, it has been shown that along with the well documented dysexecutive syndrome seen in HD, changes in social cognition and decision-making are more common than previously thought. Furthermore, some of the early neuropathological and neurochemical changes seen in HD disrupt networks known to be involved in social functioning. In this review, we explore how HD changes the way individuals interact in a social world. Specifically, we summarise the literature on both classical and social decision-making (value-based decision-making in a social context) along with studies of theory of mind, empathy, alexithymia, and emotion recognition in HD. The literature specific to HD is discussed and supported by evidence from similar neurodegenerative disorders and healthy individuals to propose future directions and potential therapeutic avenues to be explored.


2021 ◽  
Vol 10 (13) ◽  
pp. 3001
Author(s):  
Klaudia Plinta ◽  
Andrzej Plewka ◽  
Magdalena Wójcik-Pędziwiatr ◽  
Nikola Zmarzły ◽  
Marcin Rudziński ◽  
...  

Huntington’s disease (HD) is an autosomal dominant genetic disease that can be divided into preclinical and symptomatic stages. Due to the diverse HD phenotype, there is an urgent need to identify markers that would independently assess its severity. The aim of this study was to evaluate the use of plasma levels of TGF-β1 in the assessment of HD severity. One hundred HD patients and 40 healthy volunteers were included in the study. All HD patients underwent neurological and cognitive function assessment. TGF-β1 levels were determined in the plasma of all patients. The correlations between TGF-β1 levels and clinical profile and HD severity were also investigated. In symptomatic patients, cognitive decline was demonstrated, while in preclinical patients, no symptoms were found. Plasma levels of TGF-β1 in HD patients did not differ significantly from the control group and did not change with the progression of the disease. In addition, TGF-β1 levels also did not correlate with the severity of motor dysfunction. Positive correlations between plasma TGF-β1 concentration and intensity of cognitive impairment were found, but only in the early disease stage. There was no clear benefit in assessing plasma TGF-β1 levels in HD patients as a marker of disease severity.


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