Huntington's disease: a clinical review

@article{McColgan2018HuntingtonsDA,
  title={Huntington's disease: a clinical review},
  author={Peter McColgan and Sarah J. Tabrizi},
  journal={European Journal of Neurology},
  year={2018},
  volume={25}
}
Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4. In Western populations HD has a prevalence of 10.6–13.7 individuals per 100 000. It is characterized by cognitive, motor and psychiatric disturbance. At the cellular level mutant huntingtin results in neuronal dysfunction and death through a number of mechanisms, including disruption of proteostasis, transcription… 
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A succinct summary of the most interesting molecular biomarkers that have been assessed in patients, mostly obtained from body fluids such as cerebrospinal fluid, peripheral blood and saliva are provided.
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The efficacy of current HD treatments is discussed, the clinical trial progress of emerging potential HD therapeutics are explored and potential therapies in pre-clinical development are explored.
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New insights are discussed into the molecular pathogenesis of Huntington disease and future therapeutic strategies, including the modulation of DNA repair and targeting the DNA mutation itself are discussed.
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Huntingtin-lowering approaches act upstream of pathogenic mechanisms and therefore have a high a priori likelihood of modifying disease course, whereas other strategies are progressing rapidly toward human studies.
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TLDR
It is reported that in HD postmortem striatum, the protein levels of the full-length form of P2X7R, also named P2 X7R-A, are upregulated, and the exclusively human naturally occurring variant lacking the C-terminus region, P2x7 R-B, is upregulated as well.
Studying Huntington’s Disease in Yeast: From Mechanisms to Pharmacological Approaches
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Some of the most important contributions of yeast to HD research are summarized, specifically concerning the elucidation of mechanistic features of mHTT cytotoxicity and the potential of yeast as a platform to screen for pharmacological agents against HD.
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References

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TLDR
Advances in genetic technology are expected to highlight processes capable of altering the course of HD and therefore to provide new, human‐validated targets for traditional drug development, with the goal of developing rational treatments to delay or prevent onset of HD clinical signs.
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TLDR
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TLDR
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