Evidence map›Paper›PMID 38282031›Full record

ReviewBritish medical bulletin2024

Genetics in Parkinson's disease, state-of-the-art and future perspectives.

L Trevisan, A Gaudio, E Monfrini, L Avanzino, A Di Fonzo, P Mandich

Open access · hybridAbstract readReview
In one paragraph

Review in British medical bulletin, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed, 1 pooled it
17.0field-weighted citation impact, top 1% 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

35 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Gender-specific gene profiling inIBRO neuroscience reports · 2026
    Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Differentiating between the impact of sex and gender in Parkinson's disease: utilising these to advance current understanding and care practices.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  14. Article
  15. Review
  16. Leveraging Foundation Models for the Characterization of Small-RNA Properties.Computational and structural biotechnology journal · 2026
    Article
  17. Article
  18. Article
  19. Review
  20. 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

6 authors at 2 institutions in 1 country.

L TrevisanDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Largo P. Daneo 3, Genova, 16132, Italy.ORCID 0000-0002-8608-4342
A GaudioIRCCS Ospedale Policlinico San Martino- UOC Genetica Medica, Largo R. Benzi 10, Genova, 16132, Italy.ORCID 0000-0002-3377-3953
E MonfriniDino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Via Francesco Sforza 35, Milan, 20122, Italy.
L AvanzinoDepartment of Experimental Medicine, Section of Human Physiology, University of Genoa, Viale Benedetto XV/3, Genova, 16132, Italy.
A Di FonzoDino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Via Francesco Sforza 35, Milan, 20122, Italy.
P MandichDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Largo P. Daneo 3, Genova, 16132, Italy.
Ospedale Policlinico San Martino · ITUniversity of Milan · IT

Funding

Italian Ministry of Health 2022-2024Italian Ministry of Health RIN- RCR-2019-23669119_003
6 · The paper itself

Abstract

backgroundParkinson's disease (PD) is the second most common neurodegenerative disorder and is clinically characterized by the presence of motor (bradykinesia, rigidity, rest tremor and postural instability) and non-motor symptoms (cognitive impairment, autonomic dysfunction, sleep disorders, depression and hyposmia). The aetiology of PD is unknown except for a small but significant contribution of monogenic forms. SOURCES OF DATA: No new data were generated or analyzed in support of this review. AREAS OF AGREEMENT: Up to 15% of PD patients carry pathogenic variants in PD-associated genes. Some of these genes are associated with mendelian inheritance, while others act as risk factors. Genetic background influences age of onset, disease course, prognosis and therapeutic response. AREAS OF CONTROVERSY: Genetic testing is not routinely offered in the clinical setting, but it may have relevant implications, especially in terms of prognosis, response to therapies and inclusion in clinical trials. Widely adopted clinical guidelines on genetic testing are still lacking and open to debate. Some new genetic associations are still awaiting confirmation, and selecting the appropriate genes to be included in diagnostic panels represents a difficult task. Finally, it is still under study whether (and to which degree) specific genetic forms may influence the outcome of PD therapies. GROWING POINTS: Polygenic Risk Scores (PRS) may represent a useful tool to genetically stratify the population in terms of disease risk, prognosis and therapeutic outcomes. AREAS TIMELY FOR DEVELOPING RESEARCH: The application of PRS and integrated multi-omics in PD promises to improve the personalized care of patients.

Indexed as

Parkinson DiseaseHumansRisk FactorsTremorgeneticsParkinson’s diseasePolygenic Risk Scorestailored therapies

Identifiers

PMID38282031
PMCPMC10938543
OpenAlexW4391295547

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.