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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317 Citations
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317 Citations

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Abstract Huntington’s disease (HD) is a highly common inherited monogenic neurodegenerative disease, and the gene responsible for its development is located in the 4p16.3 chromosome. The product of…
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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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TLDR
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.
P2X7 Receptor Upregulation in Huntington’s Disease Brains
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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

SHOWING 1-10 OF 101 REFERENCES
Huntington's disease: from molecular pathogenesis to clinical treatment
Genetic modifiers of Huntington's disease
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.
Diagnostic genetic testing for Huntington's disease
TLDR
The purpose of this article is to draw the attention of neurologists and psychiatrists to the challenges and pitfalls encountered in diagnostic testing for HD to guide practice and help ensure the best possible outcome for individuals and their family.
The cognitive burden in Huntington's disease: Pathology, phenotype, and mechanisms of compensation
TLDR
Evidence from functional brain imaging studies suggests the presence of neural compensation in preclinical stages of HD, whereby the brain undergoes functional reorganization in response to neurodegeneration to preserve motor and cognitive performance.
Mutant huntingtin fragmentation in immune cells tracks Huntington's disease progression.
TLDR
Findings indicate that quantification of mHTT in peripheral immune cells by TR-FRET holds significant promise as a noninvasive disease biomarker.
Huntington’s Disease—Update on Treatments
TLDR
To date, there has been minimal success with identifying a disease-modifying therapy based upon molecular models, but one of the emerging gene silencing techniques may provide a breakthrough in treating this devastating disease.
Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
Huntington disease: natural history, biomarkers and prospects for therapeutics
TLDR
The natural history of HD is described, including the timing of emergence of motor, cognitive and emotional impairments, and the techniques that are used to assess these features, and potential future roles of these biomarkers in clinical trials are reviewed.
Huntington Disease
  • B. Harper
  • Medicine
    Journal of the Royal Society of Medicine
  • 2005
TLDR
It is suggested that as this disease was originally recognized by Lund the authors use his modest and more European name setesdalryyja, rather than concentrating on Huntington’s Career.
Altered PDE10A expression detectable early before symptomatic onset in Huntington's disease.
TLDR
In vivo PDE10A expression in early premanifest Huntington's disease gene carriers was decreased in striatum and pallidum and increased in motor thalamic nuclei, compared to a group of matched healthy controls and Connectivity-based analysis revealed prominent PDE 10A decreases confined in the sensorimotor-striatum and in striatopallidal projecting segments.
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