Evidence map›Paper›PMID 28733970›Full record

ReviewCurrent neurology and neuroscience reports2017

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Andreas Puschmann

Open access · hybridAbstract readReview
In one paragraph

Review in Current neurology and neuroscience reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 1 pooled it
4.1field-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

59 citing papers in PubMed, 1 synthesis or guideline pooled it, 104 citations in OpenAlex.

  1. GLP-1a: Going beyond Traditional Use.International journal of molecular sciences · 2022
    Pooled it
  2. Species-dependent activities of the PINK1-parkin axis.Translational neurodegeneration · 2026
    Review
  3. Article
  4. Article
  5. Review
  6. Article
  7. Does Parkinson's disease affect sleep quality?Irish journal of medical science · 2024
    Article
  8. Review
  9. Refining the clinical diagnosis of Parkinson's disease.Parkinsonism & related disorders · 2024
    Review
  10. Review
  11. Eukaryotic translation initiation factorExperimental and therapeutic medicine · 2024
    Article
  12. Review
  13. Review
  14. Review
  15. Review
  16. Review
  17. Review
  18. Review
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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

1 author at 1 institution in 1 country.

Andreas PuschmannLund University, Skåne University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden. Andreas.Puschmann@med.lu.se.
Skåne University Hospital · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purpose of reviewThis article reviews was to review genes where putative or confirmed pathogenic mutations causing Parkinson's disease or Parkinsonism have been identified since 2012, and summarizes the clinical and pathological picture of the associated disease subtypes. RECENT

findingsNewly reported genes for dominant Parkinson's disease are DNAJC13, CHCHD2, and TMEM230. However, the evidence for a disease-causing role is not conclusive, and further genetic and functional studies are warranted. RIC3 mutations have been reported from one family but not yet encountered in other patients. New genes for autosomal recessive disease include SYNJ1, DNAJC6, VPS13C, and PTRHD1. Deletions of a region on chromosome 22 (22q11.2del) are also associated with early-onset PD, but the mode of inheritance and the underlying causative gene remain unclear. PODXL mutations were reported in autosomal recessive PD, but their roles remain to be confirmed. Mutations in RAB39B cause an X-linked Parkinsonian disorder. Mutations in the new dominant PD genes have generally been found in medium- to late-onset Parkinson's disease. Many mutations in the new recessive and X-chromosomal genes cause severe atypical juvenile Parkinsonism, but less devastating mutations in these genes may cause PD.

Indexed as

DNA-Binding ProteinsGenetic Association StudiesHumansIntracellular Signaling Peptides and ProteinsMitochondrial ProteinsMutationParkinson DiseaseParkinsonian DisordersTranscription FactorsUbiquitin-Protein LigasesCHCHD2 protein, humanDNA-Binding ProteinsIntracellular Signaling Peptides and ProteinsMitochondrial Proteinsparkin proteinRIC3 protein, humanTranscription FactorsUbiquitin-Protein LigasesDominantGeneticMonogenicParkinsonismParkinson’s diseaseRecessive

Identifiers

PMID28733970
PMCPMC5522513
OpenAlexW2739170199

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.