Evidence map›Paper›PMID 34396589›Full record

SynthesisMovement disorders : official journal of the Movement Disorder Society2021

Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.

Christina Wittke, Sonja Petkovic, Valerija Dobricic, Susen Schaake, MDS‐endorsed PSP Study Group, Gesine Respondek, Anne Weissbach, Harutyun Madoev, Joanne Trinh, Eva-Juliane Vollstedt and 12 more

Open access · hybridAbstract readSystematic Review
In one paragraph

Synthesis in Movement disorders : official journal of the Movement Disorder Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 1 pooled it
4.0field-weighted citation impact, top 5% 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

33 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.

  1. Genotype-Phenotype Relations for the Dystonia-Parkinsonism GenesInternational journal of molecular sciences · 2025
    Pooled it
  2. Review
  3. Biallelic SYNJ1 Variants in a patient with multiple system atrophy mimic syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  4. Article
  5. Review
  6. Article
  7. Association between α-synuclein in plasma neuron-derived exosomes and clinical symptoms in Parkinson's disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Genetic Sketch of Parkinson's Disease in India.Annals of Indian Academy of Neurology · 2025
    Article
  13. Review
  14. Review
  15. Review
  16. Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.Movement disorders : official journal of the Movement Disorder Society · 2024
    Article
  17. Review
  18. Understanding monogenic Parkinson's disease at a global scale.medRxiv : the preprint server for health sciences · 2024
    Article
  19. Review
  20. 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

22 authors at 6 institutions in 6 countries.

Christina Wittke *Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Sonja Petkovic *Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Valerija Dobricic *Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Susen Schaake *Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
MDS‐endorsed PSP Study Group
Gesine RespondekDepartment of Neurology, Technische Universität München, Munich, Germany.
Anne WeissbachInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Harutyun MadoevInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Joanne TrinhInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Eva-Juliane VollstedtInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Neele KuhnkeInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Katja LohmannInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0002-5121-1460
Marija Dulovic MahlowInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Connie MarrasToronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
Inke R KönigInstitute of Medical Biometry and Statistics, University of Luebeck, Luebeck, Germany.
Maria StamelouParkinson's Disease and Movement Disorders Department, HYGEIA Hospital, Athens, Greece.
Vincenzo BonifatiDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Christina M LillInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Meike Kasten *Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Hans-Jürgen Huppertz *Swiss Epilepsy Center, Klinik Lengg AG, Zurich, Switzerland.
Günter Höglinger *German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.ORCID 0000-0001-7587-6187
Christine KleinInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
University of Lübeck · DEGerman Center for Neurodegenerative Diseases · DEPhilipps University of Marburg · DEUniversity of Toronto · CAErasmus MC · NLInstitute for Integrative and Experimental Genomics · DE

Funding

BIOMARKER DISCOVERY AND VALIDATION IN PSPU01NS102035 · NINDS · JOHNS HOPKINS UNIVERSITY · PI PANTELYAT, ALEXANDER Y. · 2018 to 2022
$4.5M
Multi-modal magnetic resonance imaging in progressive supranuclear palsy (PSP)K23AG059891 · NIA · JOHNS HOPKINS UNIVERSITY · PI PANTELYAT, ALEXANDER Y. · 2018 to 2022
$968k
CIHRNIA NIH HHS K23 AG059891NINDS NIH HHS U01 NS102035
6 · The paper itself

Abstract

This Movement Disorder Society Genetic mutation database Systematic Review focuses on monogenic atypical parkinsonism with mutations in the ATP13A2, DCTN1, DNAJC6, FBXO7, SYNJ1, and VPS13C genes. We screened 673 citations and extracted genotypic and phenotypic data for 140 patients (73 families) from 77 publications. In an exploratory fashion, we applied an automated classification procedure via an ensemble of bootstrap-aggregated ("bagged") decision trees to distinguish these 6 forms of monogenic atypical parkinsonism and found a high accuracy of 86.5% (95%CI, 86.3%-86.7%) based on the following 10 clinical variables: age at onset, spasticity and pyramidal signs, hypoventilation, decreased body weight, minimyoclonus, vertical gaze palsy, autonomic symptoms, other nonmotor symptoms, levodopa response quantification, and cognitive decline. Comparing monogenic atypical with monogenic typical parkinsonism using 2063 data sets from Movement Disorder Society Genetic mutation database on patients with SNCA, LRRK2, VPS35, Parkin, PINK1, and DJ-1 mutations, the age at onset was earlier in monogenic atypical parkinsonism (24 vs 40 years; P = 1.2647 × 10

Indexed as

Parkinson DiseaseParkinsonian DisordersGenotypeHumansLevodopaPhenotypeLevodopaatypical parkinsonismgeneticsMDSGeneParkinson's diseasered flagssystematic review

Identifiers

PMID34396589
PMCPMC9070562
OpenAlexW3138569498

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.