Evidence map›Paper›PMID 36333361›Full record

ArticleNPJ Parkinson's disease2022

A multicenter study of genetic testing for Parkinson's disease in the clinical setting.

Anja Kovanda, Valentino Rački, Gaber Bergant, Dejan Georgiev, Dušan Flisar, Eliša Papić, Marija Brankovic, Milena Jankovic, Marina Svetel, Nataša Teran and 7 more

Abstract read
In one paragraph

Article in NPJ Parkinson's disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
–field-weighted citation impact
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

14 citing papers in PubMed.

  1. Article
  2. Article
  3. Clinical Utility ofGenes · 2026
    Review
  4. Article
  5. Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Article
  6. Article
  7. Article
  8. Observational
  9. GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024
    Article
  10. Article
  11. Article
  12. Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024
    Review
  13. Article
  14. 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

17 authors.

Anja Kovanda *Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.ORCID http://orcid.org/0000-0002-7468-878X
Valentino Rački *Department of Neurology, University of Rijeka, Faculty of Medicine, Rijeka, Croatia.
Gaber BergantClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Dejan GeorgievDepartment of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Dušan FlisarDepartment of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Eliša PapićDepartment of Neurology, University of Rijeka, Faculty of Medicine, Rijeka, Croatia.
Marija BrankovicNeurology Clinic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Milena JankovicNeurology Clinic, UCCS, Belgrade, Serbia.ORCID http://orcid.org/0000-0002-3939-9739
Marina SvetelNeurology Clinic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Nataša TeranClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Aleš MaverClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.ORCID http://orcid.org/0000-0002-9826-0534
Vladimir S KosticNeurology Clinic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Ivana NovakovicInstitute of Human Genetics and Neurology Clinic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Zvezdan PirtošekDepartment of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Martin RakušaDepartment of Neurology, University Medical Centre Maribor, Maribor, Slovenia.ORCID http://orcid.org/0000-0003-4433-3985
Vladimira VuletićDepartment of Neurology, University of Rijeka, Faculty of Medicine, Rijeka, Croatia.
Borut PeterlinClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia. borut.peterlin@kclj.si.

Funding

Hrvatska Zaklada za Znanost (Croatian Science Foundation) IP-2019-04-7276Javna Agencija za Raziskovalno Dejavnost RS (Slovenian Research Agency) J3-9280Javna Agencija za Raziskovalno Dejavnost RS (Slovenian Research Agency) V3-1911Ministarstvo Prosvete, Nauke i Tehnološkog Razvoja (Ministry of Education, Science and Technological Development of the Republic of Serbia) 175090
6 · The paper itself

Abstract

Parkinson's disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of genetic testing for PD in a routine clinical setting on a multicenter cohort of 149 early-onset and familial patients by exome sequencing and semi-quantitative multiplex ligation-dependent probe amplification of evidence-based PD-associated gene panel. We show that genetic testing for PD should be considered for both early-onset and familial patients alike, and a clinical yield of about 10% in the Caucasian population can be expected.

Identifiers

PMID36333361
PMCPMC9636217

What Socratic 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 Socratic graph.