Evidence map›Paper›PMID 29780132›Full record

ArticleInternal medicine (Tokyo, Japan)2018

A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene.

Yuka Ebihara, Hitoshi Mochizuki, Nobuyuki Ishii, Ikuko Mizuta, Kazutaka Shiomi, Toshiki Mizuno, Masamitsu Nakazato

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

Article in Internal medicine (Tokyo, Japan), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. First report of a homozygous mutation on exon 24 of the NOTCH3 gene in a paucisymptomatic CADASIL elderly patient.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022
    Article
  3. 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

7 authors.

Yuka EbiharaDivision of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, University of Miyazaki, Japan.
Hitoshi MochizukiDivision of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, University of Miyazaki, Japan.
Nobuyuki IshiiDivision of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, University of Miyazaki, Japan.
Ikuko MizutaDepartment of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan.
Kazutaka ShiomiDivision of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, University of Miyazaki, Japan.
Toshiki MizunoDepartment of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan.
Masamitsu NakazatoDivision of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, University of Miyazaki, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 50-year-old man with a family history of stroke and depression slowly developed brain lesions. Magnetic resonance imaging revealed hyperintense lesions in the diffuse white matter, external capsules, and temporal poles on T2-weighted imaging. A heterozygous mutation c.3879C>G in exon 24 of the NOTCH3 gene (p.Cys1293Trp) was detected, confirming a diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Exon 24 mutations are rather rare and this represents the first Japanese case of CADASIL.

Indexed as

MutationAgedAsian PeopleCADASILExonsFemaleGenotypeHeterozygoteHumansMagnetic Resonance ImagingMaleMiddle AgedPhenotypeReceptor, Notch3StrokeReceptor, Notch3autosomal dominant arteriopathyCADASILexon 24leukoencephalopathyNOTCH3

Identifiers

PMID29780132
PMCPMC6232040

What OpenQuestion holds

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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.