Evidence map›Paper›PMID 29956026›Full record

ReviewJournal of neurology2019

Multiple clinical features of Huntington's disease correlate with mutant HTT gene CAG repeat lengths and neurodegeneration.

Sonia Podvin, Holly T Reardon, Katrina Yin, Charles Mosier, Vivian Hook

Abstract readReview
PubMed Publisher
In one paragraph

Review in Journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 2 pooled it
2.3field-weighted citation impact, top 12% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 61 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Article
  5. Review
  6. Review
  7. Article
  8. Review
  9. Article
  10. Review
  11. Article
  12. Review
  13. Review
  14. Review
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Sonia PodvinSkaggs School of Pharmacy and Pharmaceutical Sciences, University of California, 9500 Gilman Drive, MC0719, La Jolla, San Diego, CA, 92093-0719, USA.
Holly T ReardonSkaggs School of Pharmacy and Pharmaceutical Sciences, University of California, 9500 Gilman Drive, MC0719, La Jolla, San Diego, CA, 92093-0719, USA.
Katrina YinSkaggs School of Pharmacy and Pharmaceutical Sciences, University of California, 9500 Gilman Drive, MC0719, La Jolla, San Diego, CA, 92093-0719, USA.
Charles MosierSkaggs School of Pharmacy and Pharmaceutical Sciences, University of California, 9500 Gilman Drive, MC0719, La Jolla, San Diego, CA, 92093-0719, USA.
Vivian HookSkaggs School of Pharmacy and Pharmaceutical Sciences, University of California, 9500 Gilman Drive, MC0719, La Jolla, San Diego, CA, 92093-0719, USA. vhook@ucsd.edu.ORCID http://orcid.org/0000-0001-6461-7024
University of Montana · USUniversity of California San Diego · US

Funding

National Institutes of Health T32DA07315
6 · The paper itself

Abstract

Huntington's disease (HD) is a fatal neurodegenerative disease caused by mutant HTT gene expansions of CAG triplet repeat numbers that are inherited in an autosomal dominant manner. HD patients display multiple clinical features that are correlated with HTT CAG repeat numbers that include age of disease onset, motor dysfunction, cognitive deficits, compromised daily living capacity, and brain neurodegeneration. It is important to understand the significant relationships of the multiple HD clinical deficits correlated with the number of mutant HTT CAG expansions that are the genetic basis for HD disabilities. Therefore, this review highlights the significant correlations of the HD clinical features of age of onset, motor and cognitive disabilities, decline in living capabilities, weight loss, risk of death, and brain neurodegeneration with respect to their associations with CAG repeat lengths of the HTT gene. Quantitative HTT gene expression patterns analyzed in normal adult human brain regions demonstrated its distribution in areas known to undergo neurodegeneration in HD, as well as in other brain regions. Future investigation of the relationships of the spectrum of clinical HD features with mutant HTT molecular mechanisms will be important to gain understanding of how mutant CAG expansions of the HTT gene result in the devastating disabilities of HD patients.

Indexed as

Huntington DiseaseHumansHuntingtin ProteinTrinucleotide RepeatsHTT protein, humanHuntingtin ProteinCognition disordersHuntington’s diseaseMotor disordersNeurodegenerationPolyglutamine

Identifiers

PMID29956026
OpenAlexW2810108266

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.