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Background People with Huntington's disease have an elevated risk of physical and cognitive impairment. Our aim is to find out how people with HD live outside of the clinical environment in order to better assist these patients. Methods Thirty-three people were affected or at-risk people participated in this study. Living with HD begins with acceptance or denial that one is at risk for the disease, increasing understanding of the condition as a result of medical, emotional, and cognitive changes, and, eventually, loss of autonomy with physical dependence on another individual, as well as loss of sense of self and family. Conclusion Although the daily life of patients before disease onset was characterized by physical and mental/cognitive freedom, with HD, they became more embedded in their bodies, and their conditions are related to a lack of effective curable therapy.
Source link: https://doi.org/10.1186/s13023-022-02330-9
The aim of this research was to investigate the effect of TBP gene CAG/CAG repeats in conjunction with HTT gene CAG repeats to determine the age at HD onset in Brazilian people. 38 repeats were the most common TBP allele. TBP direct Sanger sequencing of several samples that revealed other four TBP structures that were not related to the basic TBP structure was also carried out in the literature. The HTT developed CAG and TBP CAG/CAA repeat sizes in our HD patients, explaining 66% of the age at onset. The number of expanded HTT CAG repeats was the most significant attribute of the model associated with AO. The difference between HD AO and HTT's CAG with TBP CAG/CAA and the HTT's partnership with HTT was 0. 001 compared to the previous HTT CAG/CAG/CAA, as well as TBP CAG/CAA and the HTT's CAG with HTT increased CAG was 0. 001 compared to the unification of HD AO with HTT extended CAG. On HD AO, if any, we discovered a weak link of TBP CAG/CAA repeats.
Source link: https://doi.org/10.1007/s12031-021-01938-z
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