Evidence map›Paper›PMID 37698787›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2024

Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype-phenotype correlation.

Dipanwita Sadhukhan, Parama Mitra, Smriti Mishra, Arunima Roy, Gargi Podder, Biman Kanti Ray, Atanu Biswas, Subhra Prakash Hui, Tapas Kumar Banerjee, Arindam Biswas

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In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024. 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
0.2field-weighted citation impact, top 39% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  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

10 authors at 3 institutions in 1 country.

Dipanwita SadhukhanMolecular Biology & Clinical Neuroscience Division, National Neurosciences Centre, Calcutta, Kolkata, India.
Parama MitraMolecular Biology & Clinical Neuroscience Division, National Neurosciences Centre, Calcutta, Kolkata, India.
Smriti MishraMolecular Biology & Clinical Neuroscience Division, National Neurosciences Centre, Calcutta, Kolkata, India.
Arunima RoyMolecular Biology & Clinical Neuroscience Division, National Neurosciences Centre, Calcutta, Kolkata, India.
Gargi PodderInstitute of Post Graduate Medical Education & Research and Bangur Institute of Neurosciences, Kolkata, India.
Biman Kanti RayInstitute of Post Graduate Medical Education & Research and Bangur Institute of Neurosciences, Kolkata, India.
Atanu BiswasInstitute of Post Graduate Medical Education & Research and Bangur Institute of Neurosciences, Kolkata, India.
Subhra Prakash HuiS. N. Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, India.
Tapas Kumar BanerjeeMolecular Biology & Clinical Neuroscience Division, National Neurosciences Centre, Calcutta, Kolkata, India.
Arindam BiswasMolecular Biology & Clinical Neuroscience Division, National Neurosciences Centre, Calcutta, Kolkata, India. thisisarindam@gmail.com.ORCID http://orcid.org/0000-0003-1722-7685
National Neurosciences Centre · INBangur Institute of Neurosciences · INUniversity of Calcutta · IN

Funding

Department of Science & Technology, Govt. of India, under Cognitive Science Research Initiative Programme DST/CSRI-P/2017/22Department of Science & Technology, Govt. of India, under Cognitive Science Research Initiative Programme DST/CSRI-PDF/2021/12
6 · The paper itself

Abstract

introductionRNF213 mutations have been reported mostly in moyamoya disease (MMD) with varying frequencies across different ethnicities. However, its prevalence in non-MMD adult-onset ischemic stroke is still not well explored. AIMS AND

objectivesThis present study thus aims to screen the most common RNF213 variant (Arg4810Lys, among East Asians) in the Eastern Indian non-MMD ischemic stroke patients and correlate it with long-term progression and prognosis of the patients. The subjects were analyzed for this variant using PCR-RFLP and confirmed using Sanger sequencing method. RESULT AND

conclusionWe have identified Arg4810Lys variant among eleven young-onset familial ischemic stroke patients in heterozygous manner. A positive correlation of the variant with positive family history (P = 0.001), earlier age at onset (P = 0.002), and history of recurrent stroke (P = 0.015) was observed. However, the carriers showed better cognitive performances in memory (P = 0.042) and executive function (P = 0.004). Therefore, we can conclude that Arg4810Lys/RNF213 - a pathogenic variant for young-onset familial ischemic stroke with higher incidence of recurrent events unlike in MMD cases, have no additional impact on cognition among Eastern Indians.

Indexed as

Ischemic StrokeMoyamoya DiseaseAdenosine TriphosphatasesAdultGenetic Association StudiesGenetic Predisposition to DiseaseHumansMutationUbiquitin-Protein LigasesAdenosine TriphosphatasesRNF213 protein, humanUbiquitin-Protein LigasesIndiansIschemic strokeMutationsp.Arg4810LysRNF213

Identifiers

PMID37698787
OpenAlexW4386623888

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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.