Evidence map›Paper›PMID 39812704›Full record

ArticleNeurogenetics2025

Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.

Gustavo Maximiano-Alves, Renata do Amaral Moreto Caravelas, Trajano Aguiar Pires Gonçalves, Kelvin Ferrari Corniani, Júlio Cesar Nather, Camila Vasconcelos Geraldi-Tomaselli, Rodrigo Siqueira Soares Frezatti, Regina Maria França Fernandes, Antônio Carlos Dos Santos, Wilson Marques and 1 more

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Neurogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. The first report of ceroid lipofuscinosis type 11 in China: a novel mutation of GRN and updated clinical review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Review
  2. 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

11 authors.

Gustavo Maximiano-AlvesDepartment of Neuroscience and Behavioural Sciences, School of Medicine at Ribeirão Preto, University of São Paulo, Bandeirantes Av. 3900, Ribeirão Preto, São Paulo, 14040-900, Brazil.
Renata do Amaral Moreto CaravelasOphtalmology Department, School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Trajano Aguiar Pires GonçalvesDepartment of Neuroscience and Behavioural Sciences, School of Medicine at Ribeirão Preto, University of São Paulo, Bandeirantes Av. 3900, Ribeirão Preto, São Paulo, 14040-900, Brazil.
Kelvin Ferrari CornianiOphtalmology Department, School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Júlio Cesar NatherDepartment of Medical Imaging, Haematology and Clinical Oncology, School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Camila Vasconcelos Geraldi-TomaselliDepartment of Neuroscience and Behavioural Sciences, School of Medicine at Ribeirão Preto, University of São Paulo, Bandeirantes Av. 3900, Ribeirão Preto, São Paulo, 14040-900, Brazil.
Rodrigo Siqueira Soares FrezattiDepartment of Neuroscience and Behavioural Sciences, School of Medicine at Ribeirão Preto, University of São Paulo, Bandeirantes Av. 3900, Ribeirão Preto, São Paulo, 14040-900, Brazil.
Regina Maria França FernandesDepartment of Neuroscience and Behavioural Sciences, School of Medicine at Ribeirão Preto, University of São Paulo, Bandeirantes Av. 3900, Ribeirão Preto, São Paulo, 14040-900, Brazil.
Antônio Carlos Dos SantosDepartment of Medical Imaging, Haematology and Clinical Oncology, School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Wilson MarquesDepartment of Neuroscience and Behavioural Sciences, School of Medicine at Ribeirão Preto, University of São Paulo, Bandeirantes Av. 3900, Ribeirão Preto, São Paulo, 14040-900, Brazil.
Pedro José TomaselliDepartment of Neuroscience and Behavioural Sciences, School of Medicine at Ribeirão Preto, University of São Paulo, Bandeirantes Av. 3900, Ribeirão Preto, São Paulo, 14040-900, Brazil. pjtomas@fmrp.usp.br.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phenotype is variable and not fully known. A 21-year-old man was evaluated in our neurogenetic outpatient clinic for early onset complex phenotype, including learning difficulties, cerebellar ataxia, cone-rod dystrophy, epilepsy, and dystonia. The patient was submitted to neurological and neuropsychological assessment, neuro-ophthalmological tests, brain MRI, EEG and whole exome sequencing. A homozygous frameshift variant (NM_002087.4: c.768_769dup; p.Gln257Profs*27) was found. Distinct type descriptions, as in this case, increase the clinical spectrum of the disease.

Indexed as

Cone-Rod DystrophiesLearning DisabilitiesNeuronal Ceroid-LipofuscinosesAge of OnsetFrameshift MutationHomozygoteHumansMagnetic Resonance ImagingMalePhenotypeYoung AdultCLN11Deep phenotypingLipofuscinosis

Identifiers

PMID39812704

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.