Evidence map›Paper›PMID 36983567›Full record

ReviewJournal of personalized medicine2023

Pharmacogenetics in the Treatment of Huntington's Disease: Review and Future Perspectives.

Xandra García-González, Esther Cubo, Lucía Simón-Vicente, Natividad Mariscal, Raquel Alcaraz, Laura Aguado, Jéssica Rivadeneyra-Posadas, Antonio Sanz-Solas, Miriam Saiz-Rodríguez

Open access · goldAbstract readReview
In one paragraph

Review in Journal of personalized medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.5field-weighted citation impact, top 11% 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

12 citing papers in PubMed, 17 citations in OpenAlex.

  1. Psychosis in Huntington disease: a short update.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
  2. Article
  3. Review
  4. Review
  5. Review
  6. Review
  7. Review
  8. The pathobiology of depression in Huntington's disease: an unresolved puzzle.Journal of neural transmission (Vienna, Austria : 1996) · 2024
    Review
  9. Review
  10. Pathomechanisms of behavioral abnormalities in Huntington disease: an update.Journal of neural transmission (Vienna, Austria : 1996) · 2024
    Review
  11. Review
  12. Review
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

9 authors at 3 institutions in 1 country.

Xandra García-GonzálezPharmacy Department, Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain.ORCID 0000-0002-6269-7953
Esther CuboNeurology Department, Hospital Universitario de Burgos, 09006 Burgos, Spain.
Lucía Simón-VicenteDepartment of Health Sciences, University of Burgos, 09001 Burgos, Spain.
Natividad MariscalNeurology Department, Hospital Universitario de Burgos, 09006 Burgos, Spain.
Raquel AlcarazResearch Unit, Fundación Burgos por la Investigación de la Salud (FBIS), Hospital Universitario de Burgos, 09006 Burgos, Spain.
Laura AguadoNeurology Department, Hospital Universitario de Burgos, 09006 Burgos, Spain.ORCID 0000-0001-8740-9375
Jéssica Rivadeneyra-PosadasResearch Unit, Fundación Burgos por la Investigación de la Salud (FBIS), Hospital Universitario de Burgos, 09006 Burgos, Spain.ORCID 0000-0002-1725-5304
Antonio Sanz-SolasResearch Unit, Fundación Burgos por la Investigación de la Salud (FBIS), Hospital Universitario de Burgos, 09006 Burgos, Spain.
Miriam Saiz-RodríguezDepartment of Health Sciences, University of Burgos, 09001 Burgos, Spain.ORCID 0000-0002-1660-3135
Hospital Universitario de Burgos · ESHospital General Universitario Gregorio Marañón · ESUniversidad de Burgos · ES

Funding

Fundación hna 2nd edition of the Scientific Health Research AwardInstituto de Salud Carlos III CD21/00022
6 · The paper itself

Abstract

Huntington's disease (HD) is an autosomal dominant progressive brain disorder, caused by a pathological expansion of a CAG repeat that encodes the huntingtin gene. This genetic neurodegenerative rare disease is characterized by cognitive, motor, and neuropsychiatric manifestations. The aim of the treatment is symptomatic and addresses the hyperkinetic disorders (chorea, dystonia, myoclonus, tics, etc.) and the behavioural and cognitive disturbances (depression, anxiety, psychosis, etc.) associated with the disease. HD is still a complex condition in need of innovative and efficient treatment. The long-term goal of pharmacogenetic studies is to use genotype data to predict the effective treatment response to a specific drug and, in turn, prevent potential undesirable effects of its administration. Chorea, depression, and psychotic symptoms have a substantial impact on HD patients' quality of life and could be better controlled with the help of pharmacogenetic knowledge. We aimed to carry out a review of the available publications and evidence related to the pharmacogenetics of HD, with the objective of compiling all information that may be useful in optimizing drug administration. The impact of pharmacogenetic information on the response to antidepressants and antipsychotics is well documented in psychiatric patients, but this approach has not been investigated in HD patients. Future research should address several issues to ensure that pharmacogenetic clinical use is appropriately supported, feasible, and applicable.

Indexed as

antichoreicantidepressantantipsychoticHuntingtonpharmacogenetics

Identifiers

PMID36983567
PMCPMC10056055
OpenAlexW4321495903

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.