Evidence map›Paper›PMID 39034353›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2025

Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.

Giulia Bonato, Angelo Antonini, Francesca Pistonesi, Marta Campagnolo, Andrea Guerra, Roberta Biundo, Manuela Pilleri, Cinzia Bertolin, Leonardo Salviati, Miryam Carecchio

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. 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

10 authors.

Giulia BonatoParkinson and Movement Disorders Unit, Centre for Rare Neurological Diseases (ERN-RND), Department of Neuroscience, University of Padova, Via Giustiniani 2, 35128, Padua, Italy.
Angelo AntoniniParkinson and Movement Disorders Unit, Centre for Rare Neurological Diseases (ERN-RND), Department of Neuroscience, University of Padova, Via Giustiniani 2, 35128, Padua, Italy.
Francesca PistonesiParkinson and Movement Disorders Unit, Centre for Rare Neurological Diseases (ERN-RND), Department of Neuroscience, University of Padova, Via Giustiniani 2, 35128, Padua, Italy.
Marta CampagnoloParkinson and Movement Disorders Unit, Centre for Rare Neurological Diseases (ERN-RND), Department of Neuroscience, University of Padova, Via Giustiniani 2, 35128, Padua, Italy.
Andrea GuerraParkinson and Movement Disorders Unit, Centre for Rare Neurological Diseases (ERN-RND), Department of Neuroscience, University of Padova, Via Giustiniani 2, 35128, Padua, Italy.
Roberta BiundoParkinson and Movement Disorders Unit, Centre for Rare Neurological Diseases (ERN-RND), Department of Neuroscience, University of Padova, Via Giustiniani 2, 35128, Padua, Italy.
Manuela PilleriParkinson Institute, ASST G. Pini-CTO, Milan, Italy.
Cinzia BertolinDepartment of Woman and Children's Health, Genetic Unit, University of Padova, Padua, Italy.
Leonardo SalviatiDepartment of Woman and Children's Health, Genetic Unit, University of Padova, Padua, Italy.
Miryam CarecchioParkinson and Movement Disorders Unit, Centre for Rare Neurological Diseases (ERN-RND), Department of Neuroscience, University of Padova, Via Giustiniani 2, 35128, Padua, Italy. miryam.carecchio@unipd.it.ORCID http://orcid.org/0000-0002-0755-5477

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundParkinson's disease (PD) is a progressive neurodegenerative disorder with a multifactorial pathogenesis. Several genetic variants increase the risk of PD and about 5-10% of cases are monogenic. This study aims to define the genetic bases and clinical features of PD in a cohort of patients from Northeastern Italy, a peculiar geographical area previously not included in genetic screenings.

methodsUsing an NGS multigenic panel, 218 PD patients were tested based on age at onset, family history and development of atypical features.

resultsA total of 133 genetic variants were found in 103 patients. Monogenic PD was diagnosed in 43 patients (20% of the cohort); 28 (12.8%) carried mutations in GBA1, 10 in LRRK2 (4.6%) and 5 in PRKN (2.3%). In 17% of patients the genetic defect remained of uncertain interpretation. The selection criterion "age of onset < 55 years" was a significant predictor of a positive genetic test (OR 3.8, p 0.0037). GBA1 patients showed more severe symptoms and a higher burden of motor and non-motor complications compared to negative patients (dyskinesias OR 3, sleep disturbances OR 2.8, cognitive deficits OR 3.6; p < 0.05), with greater autonomic dysfunction (COMPASS-31 score 34.1 vs 20.2, p 0.03).

conclusionsApplying simple clinical criteria for genetic testing allows to increase the probability to identify patients with monogenic PD and better allocate resources. This process is critical to widen the understanding of disease mechanisms and to increase the individuation of patients potentially benefitting from future disease-modifying therapies.

Indexed as

MutationParkinson DiseaseAdultAgedAged, 80 and overAge of OnsetCohort StudiesFemaleGenetic Predisposition to DiseaseGenetic TestingGlucosylceramidaseHumansItalyLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MaleMiddle AgedGBA protein, humanGlucosylceramidaseLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humanparkin proteinUbiquitin-Protein LigasesGBAGeneticsNGSParkinson

Identifiers

PMID39034353
PMCPMC11698772

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.