Evidence map›Paper›PMID 35184210›Full record

ArticleJournal of neurology2022

Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.

Alessandro Orsini, Daniele Ferrari, Antonella Riva, Andrea Santangelo, Angelo Macrì, Elena Freri, Laura Canafoglia, Alfredo D'Aniello, Giancarlo Di Gennaro, Gabriele Massimetti and 7 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.0field-weighted citation impact, top 25% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. 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

17 authors at 9 institutions in 3 countries.

Alessandro OrsiniPaediatric Neurology, Paediatric Department, Santa Chiara's University Hospital, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
Daniele FerrariOphthalmology Unit, Department of Head/Neck Pathologies, Policlinico San Martino Hospital, IRCCS Hospital-University San Martino, Viale Benedetto XV, 16132, Genoa, Italy.
Antonella RivaPediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal, and Child Health, IRCCS Istituto "G. Gaslini", Via Gaslini 5, 16148, Genoa, Italy.
Andrea SantangeloPaediatric Neurology, Paediatric Department, Santa Chiara's University Hospital, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
Angelo MacrìOphthalmology Unit, Department of Head/Neck Pathologies, Policlinico San Martino Hospital, IRCCS Hospital-University San Martino, Viale Benedetto XV, 16132, Genoa, Italy.
Elena FreriDepartment of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
Laura CanafogliaDepartment of Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Alfredo D'AnielloIRCCS NEUROMED, Pozzilli, Isernia, Italy.
Giancarlo Di GennaroIRCCS NEUROMED, Pozzilli, Isernia, Italy.
Gabriele MassimettiSection of Psychiatry, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Carlo MinettiPediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal, and Child Health, IRCCS Istituto "G. Gaslini", Via Gaslini 5, 16148, Genoa, Italy.
Federico ZaraPediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal, and Child Health, IRCCS Istituto "G. Gaslini", Via Gaslini 5, 16148, Genoa, Italy.
Roberto MichelucciUnit of Neurology, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna, Italy.
Anupreet TumberDepartment of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
Ajoy VincentDepartment of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
Berge Arakel MinassianDivision of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Pasquale StrianoPediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal, and Child Health, IRCCS Istituto "G. Gaslini", Via Gaslini 5, 16148, Genoa, Italy. strianop@gmail.com.ORCID http://orcid.org/0000-0002-6065-1476
Istituto Giannina Gaslini · ITAzienda Ospedaliera Universitaria Pisana · ITFondazione IRCCS Istituto Neurologico Carlo Besta · ITHospital for Sick Children · CAIstituto Neurologico Mediterraneo · ITMartin University · USIstituto delle Scienze Neurologiche di Bologna · ITThe University of Texas Southwestern Medical Center · USUniversity of Pisa · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLafora disease (LD) is a neurodegenerative disorder featuring action and stimulus-sensitive myoclonus, epilepsy, and cognitive deterioration. Mutations in the EPM2A/EPM2B genes classically prove causative for the disease in most cases. Since full-field electroretinogram (ffERG) may reveal early-stage changes in a wide spectrum of diseases, we aimed to evaluate retinal cones and rods dysfunction in a cohort of Italian LD patients.

methodsPatients with genetically confirmed LD were recruited and subjected to ffERG analysis following the International Society for Clinical Electrophysiology of Vision (ISCEV) protocol.

resultsSix patients aged between 13 and 26 years (mean 19.5 years) were included. The mean age at disease onset was 12.5 years with a mean disease duration of 7 years. The ffERG analysis revealed a global mild to severe generalized cones dysfunction in all patients. Linear correlation was identified between disease stage and the degree of cones and rods dysfunction, as well as between the type of mutation and the cones and rods dysfunction.

conclusionsThis study brings further evidence of early retinal alterations in LD patients. The cones and rods dysfunction grade is related to disease duration. The ffERG is an important tool to determine the disease stage, allowing to evaluate either natural or treatment-related disease progression in a minimally invasive way.

Indexed as

Lafora DiseaseMyoclonic Epilepsies, ProgressiveHumansMutationPhenotypeProtein Tyrosine Phosphatases, Non-ReceptorUbiquitin-Protein LigasesProtein Tyrosine Phosphatases, Non-ReceptorUbiquitin-Protein LigasesFFERGLafora diseaseNeurodegenerationProgressive myoclonusRetinal alterations

Identifiers

PMID35184210
PMCPMC9217906
OpenAlexW4212966715

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.