Evidence map›Paper›PMID 29159076›Full record

ArticleMolecular genetics and metabolism reports2018

Parkinson's disease prevalence in Fabry disease: A survey study.

Adina H Wise, Amy Yang, Hetanshi Naik, Chanan Stauffer, Natasha Zeid, Christopher Liong, Manisha Balwani, Robert J Desnick, Roy N Alcalay

Open access · goldAbstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
3.0field-weighted citation impact, top 9% 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

27 citing papers in PubMed, 39 citations in OpenAlex.

  1. Review
  2. Sphingolipidoses: expanding the spectrum of α-synucleinopathies.Journal of neural transmission (Vienna, Austria : 1996) · 2026
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  8. Skin Conditions and Movement Disorders: Hiding in Plain Sight.Movement disorders clinical practice · 2022
    Review
  9. Article
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  11. Article
  12. Review
  13. Article
  14. Article
  15. Review
  16. Review
  17. Review
  18. Fabry Disease With Concomitant Lewy Body Disease.Journal of neuropathology and experimental neurology · 2020
    Article
  19. Article
  20. Lysosomes as a therapeutic target.Nature reviews. Drug discovery · 2019
    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 2 institutions in 1 country.

Adina H WiseDepartment of Neurology, Columbia University Medical Center, 710 W. 168th St., New York, NY 10032, United States.
Amy YangDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Hospital, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, United States.
Hetanshi NaikDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Hospital, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, United States.
Chanan StaufferDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Hospital, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, United States.
Natasha ZeidDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Hospital, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, United States.
Christopher LiongDepartment of Neurology, Columbia University Medical Center, 710 W. 168th St., New York, NY 10032, United States.
Manisha BalwaniDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Hospital, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, United States.
Robert J DesnickDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Hospital, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, United States.
Roy N AlcalayDepartment of Neurology, Columbia University Medical Center, 710 W. 168th St., New York, NY 10032, United States.
Mount Sinai Hospital · USColumbia University Irving Medical Center · US

Funding

Center for Research on the Ethical, Legal and Social Implications of Psychiatric, Neurologic and Behavioral GeneticsP50HG007257 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART · 2013 to 2017
$5.4M
The role of glucocerebrosidase in Parkinson's diseaseK02NS080915 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALCALAY, ROY · 2012 to 2016
$905k
NHGRI NIH HHS P50 HG007257NINDS NIH HHS K02 NS080915
6 · The paper itself

Abstract

Recent research has suggested a possible link between Parkinson's disease (PD) and Fabry disease. To test this relationship, we administered a self-report and family history questionnaire to determine the prevalence of PD in Fabry disease patients and family members with likely pathogenic alpha-galactosidase A (GLA) mutations. A total of 90 Fabry patients (77 from the online survey and 13 from the Icahn School of Medicine at Mount Sinai (ISMMS)) were included in the analysis. Two of the Fabry disease patients who completed the online survey were diagnosed with PD (2/90, 2.2%). Among probands older than 60, 8.3% (2/24) were diagnosed with PD. Using Kaplan Meier survival analysis, the age-specific risk of PD by age 70 was 11.1%. Family history was available on 72 Fabry families from the online study and 9 Fabry families from ISMMS. Among these 81 families, 6 (7.4%) had one first degree relative who fit the criteria for a conservative diagnosis of PD. The results of this study suggest that there may be an increased risk of developing PD in individuals with GLA mutations, but these findings should be interpreted with caution given the limitations of the study design.

Indexed as

Alpha-galactosidase AFabry diseaseGLAISMMS, Icahn School of Medicine at Mount SinaiLysosomal storage disorderParkinson's disease

Identifiers

PMID29159076
PMCPMC5683804
OpenAlexW2767690268

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.