Evidence map›Paper›PMID 35328025›Full record

ReviewGenes2022

Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.

Fangzhi Jia, Avi Fellner, Kishore Raj Kumar

Abstract readReview
In one paragraph

Review in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
103citing papers in PubMed, 4 pooled it
–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

103 citing papers in PubMed, 4 syntheses or guidelines pooled it.

  1. Genetic Landscape of Monogenic Parkinson's Disease in the African Population-A Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2026
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  18. LRRK2 as a Potential Disease-Modifying Target in Sporadic Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026
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43 more citing papers are in PubMed but not listed here.

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

3 authors.

Fangzhi JiaDepartment of Neurology, Concord Repatriation General Hospital, Concord, NSW 2139, Australia.ORCID 0000-0001-6421-8074
Avi FellnerGarvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.ORCID 0000-0001-5354-9134
Kishore Raj KumarDepartment of Neurology, Concord Repatriation General Hospital, Concord, NSW 2139, Australia.ORCID 0000-0003-3482-6962

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Parkinson's disease may be caused by a single pathogenic variant (monogenic) in 5-10% of cases, but investigation of these disorders provides valuable pathophysiological insights. In this review, we discuss each genetic form with a focus on genotype, phenotype, pathophysiology, and the geographic and ethnic distribution. Well-established Parkinson's disease genes include autosomal dominant forms (

Indexed as

Parkinson DiseaseParkinsonian DisordersDNA-Binding ProteinsGenetic TestingGenotypeHumansMembrane ProteinsPhenotypeTranscription FactorsCHCHD2 protein, humanDNA-Binding ProteinsMembrane ProteinsTranscription Factorsdeep brain stimulationgenetic testinggenomicsmonogenicParkinson’s disease

Identifiers

PMID35328025
PMCPMC8950888

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.