Evidence map›Paper›PMID 23748874›Full record

ArticleJournal of genetic counseling2014

Knowledge of and interest in genetic results among Parkinson disease patients and caregivers.

Karina Sakanaka, Cheryl H Waters, Oren A Levy, Elan D Louis, Wendy K Chung, Karen S Marder, Roy N Alcalay

Open access · bronzeAbstract read
In one paragraph

Article in Journal of genetic counseling, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
1.4field-weighted citation impact, top 19% 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

25 citing papers in PubMed, 38 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2024
    Review
  5. Article
  6. Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024
    Review
  7. Article
  8. Article
  9. Genetic Testing in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2023
    Article
  10. Article
  11. Article
  12. Article
  13. SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.Movement disorders : official journal of the Movement Disorder Society · 2019
    Article
  14. Article
  15. GBA-Associated Parkinson's Disease and Other Synucleinopathies.Current neurology and neuroscience reports · 2018
    Review
  16. Article
  17. Article
  18. Integrating Patient Concerns into Parkinson's Disease Management.Current neurology and neuroscience reports · 2017
    Review
  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

7 authors at 1 institution in 1 country.

Karina SakanakaDepartment of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
Cheryl H Waters
Oren A Levy
Elan D Louis
Wendy K Chung
Karen S Marder
Roy N Alcalay
Columbia University Irving Medical Center · US

Funding

CTSA INFRASTRUCTURE FOR PEDIATRIC RESEARCHUL1RR024156 · NCRR · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2006 to 2011
$53.0M
True Metal fac coreP30ES009089 · NIEHS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MATTHEW S PERZANOWSKI · 1998 to 2026
$44.7M
Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
The role of glucocerebrosidase in Parkinson's diseaseK02NS080915 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALCALAY, ROY · 2012 to 2016
$905k
RTP801 and ATF4 in Neuronal Death in PDK08NS070608 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEVY, OREN ABRAHAM · 2010 to 2014
$867k
NCATS NIH HHS UL1 TR000040NCRR NIH HHS UL1 RR024156NIEHS NIH HHS P30 ES009089NINDS NIH HHS K02 NS080915NINDS NIH HHS K02NS080915NINDS NIH HHS K08 NS070608
6 · The paper itself

Abstract

The purpose of the study is to investigate Parkinson disease (PD) patients' and caregivers' knowledge of and interest in genetic testing. Gaucher disease (GD) results from recessive mutations in glucocerebrosidase (GBA). Both heterozygote GBA carriers and GD patients are at greater risk for PD. Studies regarding knowledge of and interest in genetic testing have been limited and have not offered genetic results to participants. In this study, 353 PD patients and 180 caregivers were recruited to a PD genetic study. The association between GD, GBA mutations and PD was described to participants who reported their familiarity with genetic terms, answered questions on genetic concepts, and indicated their interest in knowing if they may have GD (two GBA mutations) and other genetic information that could impact their health. Ninety-three-percent of participants were interested in receiving GBA results; however, only 51.6 % of PD participants and 55.6 % of caregivers knew that "scientists have identified genes associated with a higher risk of developing PD." PD patients may benefit from education and genetic counseling on the implications of genetic testing.

Indexed as

CaregiversGlucosylceramidaseHumansMutationParkinson DiseaseGlucosylceramidase

Identifiers

PMID23748874
PMCPMC3808456
OpenAlexW2076319039

What OpenQuestion holds

Textmetadata
LicenceTDM
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.