中国神经再生研究(英文版) ›› 2021, Vol. 16 ›› Issue (6): 1186-1187.doi: 10.4103/1673-5374.300434

• 观点:退行性病与再生 • 上一篇    下一篇

聚谷氨酰胺疾病:超越神经退行变宇宙

  

  • 出版日期:2021-06-15 发布日期:2020-12-31

Polyglutamine diseases: looking beyond the neurodegenerative universe

Michal Mielcarek*, Mark Isalan    

  1. Department of Life Sciences, Imperial College London, London, UK; Imperial College Centre for Synthetic Biology, Imperial College London, London, UKhttps://orcid.org/0000-0002-9874-6753 
    (Michal Mielcarek) 
  • Online:2021-06-15 Published:2020-12-31
  • Contact: Michal Mielcarek, PhD, mielcarekml@gmail.com or m.mielcarek@imperial.ac.uk.
  • Supported by:
    This work was supported by the Imperial/ICR/NIHR BRC/NHS Confidence in Concept (iCiC) grant. MI was funded by Investigator award no WT102944 from the Wellcome Trust UK.

摘要: https://orcid.org/0000-0002-9874-6753 (Michal Mielcarek)

Abstract: Multisystem disorders are often manifested by affecting more than one bodily system or tissue. We have recently reported a significantly higher prevalence of co-existing conditions in the cohorts of both pre- and symptomatic Huntington’s disease (HD) gene carriers. We reported that even pre-symptomatic HD patients had a significantly higher number of comorbid conditions, while the symptomatic group of HD patients was characterized by a significantly lower percentage of subjects without any comorbidity (7%) in comparison to the control group (50%). This led us to conclude that HD patients have more comorbidities than controls and the number of comorbidities increases in number as the disease progresses. For the first time, we identified 8 clusters of comorbid conditions, with musculoskeletal, psychiatric and cardiovascular clusters being significantly more frequent in both pre- and symptomatic HD patients, while neurological and gastrointestinal clusters showed significantly higher occurrences in the HD symptomatic group (Zielonka et al., 2020).