Evidence map›Paper›PMID 41074240›Full record

ArticleAnnals of clinical and translational neurology2026

RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies.

Caterina Del Regno, Giovanni Ermanis, Christian Lettieri, Andrea Bernardini, Gaia Pellitteri, Enrico Belgrado, Elena Betto, Gian Luigi Gigli, David De Monte, Marco Domenico Scanni and 4 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

14 authors.

Caterina Del RegnoClinical Neurology Unit, Department of Head-Neck and Neurosciences, Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Udine, Italy.
Giovanni ErmanisClinical Neurology Unit, Department of Head-Neck and Neurosciences, Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Udine, Italy.ORCID 0009-0009-4554-8815
Christian LettieriClinical Neurology Unit, Department of Head-Neck and Neurosciences, Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Udine, Italy.
Andrea BernardiniClinical Neurology Unit, Department of Head-Neck and Neurosciences, Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Udine, Italy.ORCID 0000-0002-0227-0659
Gaia PellitteriClinical Neurology Unit, Department of Head-Neck and Neurosciences, Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Udine, Italy.
Enrico BelgradoNeurology Unit, Department of Head-Neck and Neurosciences, Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Udine, Italy.
Elena BettoInstitute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Udine, Italy.
Gian Luigi GigliClinical Neurology Unit, Department of Head-Neck and Neurosciences, Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Udine, Italy.
David De MonteClinical Neurology Unit, Department of Head-Neck and Neurosciences, Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Udine, Italy.
Marco Domenico ScanniClinical Neurology Unit, Department of Head-Neck and Neurosciences, Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Udine, Italy.
Marco MucchiutNeurology Unit, Department of Head-Neck and Neurosciences, Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Udine, Italy.
Giuseppe DamanteDepartment of Medicine, University of Udine, Udine, Italy.
Mariarosaria ValenteClinical Neurology Unit, Department of Head-Neck and Neurosciences, Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Udine, Italy.
Francesco JanesClinical Neurology Unit, Department of Head-Neck and Neurosciences, Azienda Sanitaria Universitaria Friuli Centrale (ASU FC), Udine, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early-onset PD associated with intellectual disability (Waisman's syndrome). Here we describe a 45-year-old white male affected by developmental delay, childhood onset intellectual disability, epilepsy, and PD who was treated with subthalamic deep brain stimulation and subcutaneous L-DOPA infusion. Next Generation Sequencing analysis revealed a currently unknown pathogenic hemizygous sequence variant c.463C>T (NM_171998.4) in the RAB39B gene, confirmed also in the proband's mother, affected by late-onset PD. This report expands the number of described RAB39B mutations in individuals with early- and late-onset, X-linked PD.

Indexed as

Parkinson DiseaseParkinsonian Disordersrab GTP-Binding ProteinsDeep Brain StimulationHumansIntellectual DisabilityItalyLevodopaMaleMiddle AgedPedigreeLevodopaRab39B protein, humanrab GTP-Binding ProteinsDBSParkinson's diseaseRAB39BWaisman's syndromeX‐linked Parkinson's disease

Identifiers

PMID41074240
PMCPMC12790159

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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.