Evidence map›Paper›PMID 36609835›Full record

ArticleActa neurologica Belgica2023

Motor and non-motor features in Parkinson's Disease patients carrying GBA gene mutations.

Giovanna De Michele, Gianluigi Rosario Palmieri, Chiara Pane, Enza Maria Valente, Ilaria Palmieri, Carmen Diletta Paola Dello Iacovo, Nunzia Cuomo, Augusta Giglio, Natascia De Lucia, Tommasina Fico and 3 more

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In one paragraph

Article in Acta neurologica Belgica, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
2.3field-weighted citation impact, top 12% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Is GBA1 mutation status a game-changer for impulse control behaviour in Parkinson's disease?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Article
  4. Article
  5. Review
  6. Review
  7. 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

13 authors at 3 institutions in 1 country.

Giovanna De MicheleDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.
Gianluigi Rosario PalmieriDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.
Chiara PaneDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.
Enza Maria ValenteIstituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Mondino Foundation, Pavia, Italy.
Ilaria PalmieriIstituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Mondino Foundation, Pavia, Italy.
Carmen Diletta Paola Dello IacovoDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.
Nunzia CuomoDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.
Augusta GiglioDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.
Natascia De LuciaDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.
Tommasina FicoDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.
Sandra PerilloDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.
Giuseppe De MicheleDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.
Anna De RosaDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy. anna.derosa1@unina.it.ORCID http://orcid.org/0000-0002-5618-2478
Federico II University Hospital · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITUniversity of Pavia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMutations of the Glucocerebrosidase (GBA) gene are the most common genetic risk factor yet discovered for Parkinson's Disease (PD), being found in about 5-14% of Caucasian patients.

objectiveWe aimed to assess motor and non-motor symptoms (NMS) in patients with GBA-related PD (GBA-PD) in comparison with idiopathic PD (iPD) subjects using standardized and validated scales.

methodsEleven (4 M, 7 F) patients with GBA-PD and 22 iPD patients, selected from the same cohort and matched for gender, age, and disease duration, were enrolled. The disease severity was assessed by Unified Parkinson's Disease Rating Scale-section III, gait disorder and falls by Freezing of Gait Questionnaire, and motor fluctuations by Wearing off questionnaire. NMS were evaluated using the following scales: Mini-Mental State Examination and extended neuropsychological battery, if required, Non-Motor Symptoms Scale, SCOPA-AUT Questionnaire, Apathy Evaluation Scale, Beck Depression Inventory, Epworth Sleepiness Scale, Restless Legs Syndrome Rating Scale, REM Sleep Behavior Disorder Screening Questionnaire, and Questionnaire for Impulsive-Compulsive Disorders in Parkinson's disease.

resultsGBA-PD patients showed a more severe and rapidly progressive disease, and more frequent positive family history for PD, akinetic-rigid phenotype, postural instability, dementia, and psychosis in comparison to iPD. Two of three subjects carrying L444P mutation presented with early dementia. We also found a higher occurrence of fatigue, diurnal sleepiness, and intolerance to heat/cold in the carriers group.

conclusionsOur results confirm that NMS and a more severe and faster disease course more frequently occur among GBA-PD patients in comparison to iPD.

Indexed as

GlucosylceramidaseParkinson DiseaseDementiaGait Disorders, NeurologicHumansMutationSleepinessGlucosylceramidaseDementiaGBA geneNon-motor symptomsParkinson’ s diseasePsychosis

Identifiers

PMID36609835
OpenAlexW4313680832

What OpenQuestion holds

Textmetadata
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.