Evidence map›Paper›PMID 42051465›Full record

ArticleHuman mutation2026

Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes.

Aseel A Jawabri, Ainara Salazar-Villacorta, Henriette Senghor, Rokhaya Ndiaye, Alia Al-Mehrzi, Amadou Gallo Diop, Moustapha Ndiaye, Bassam R Ali, Pedro M Rodriguez Cruz

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

Article in Human mutation, 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. 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

9 authors.

Aseel A JawabriDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, Abu Dhabi, UAE, uaeu.ac.ae.ORCID https://orcid.org/0009-0009-3530-0939
Ainara Salazar-VillacortaDepartment of Neuromuscular Diseases, Institute of Neurology, University College London, London, UK, ucl.ac.uk.ORCID https://orcid.org/0000-0002-5753-2687
Henriette SenghorNeurology Department, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal, chnu-fann.com.
Rokhaya NdiayeDivision of Human Genetics, Faculty of Medicine, Pharmacy and Odonto-Stomatology, University Cheikh Anta Diop, Dakar, Senegal.
Alia Al-MehrziDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, Abu Dhabi, UAE, uaeu.ac.ae.ORCID https://orcid.org/0009-0006-2748-0368
Amadou Gallo DiopNeurology Department, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal, chnu-fann.com.
Moustapha NdiayeNeurology Department, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal, chnu-fann.com.
Bassam R AliDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, Abu Dhabi, UAE, uaeu.ac.ae.ORCID https://orcid.org/0000-0003-1306-6618
Pedro M Rodriguez CruzDepartment of Neuromuscular Diseases, Institute of Neurology, University College London, London, UK, ucl.ac.uk.ORCID https://orcid.org/0000-0001-5416-8341

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ)-related disorders are rare, nonprogressive, autosomal recessive conditions primarily characterized by cerebellar ataxia, hypotonia, intellectual disability, delayed ambulation, and, in some cases, quadrupedal locomotion. Pathogenic variants in four disease genes,

Indexed as

Cerebellar AtaxiaIntellectual DisabilityOptic AtrophyReceptors, LDLChildEndoplasmic ReticulumFemaleHomozygoteHumansMaleMutation, MissensePedigreePhenotypeReelin ProteinReceptors, LDLReelin ProteinRELN protein, humanVLDL receptorCAMRQ1disequilibrium syndrome (DES)endoplasmic reticulum associated degradation (ERAD)reelin signalingvery low-density lipoprotein receptor (VLDLR)

Identifiers

PMID42051465
PMCPMC13112595

What OpenQuestion holds

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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.