Evidence map›Paper›PMID 31238786›Full record

ArticlePrion2019

Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report.

Yanyuan Dai, Yue Lang, Mingxuan Ding, Baizhuo Zhang, Xiaoou Han, Guangyu Duan, Li Cui

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Prion, 2019. 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
0.3field-weighted citation impact, top 41% 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

3 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022
    Review
  3. 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

7 authors at 2 institutions in 1 country.

Yanyuan Daia Department of Neurology , Neuroscience Center, The First Hospital of Jilin University, Jilin University , Changchun , China.
Yue Langa Department of Neurology , Neuroscience Center, The First Hospital of Jilin University, Jilin University , Changchun , China.
Mingxuan Dinga Department of Neurology , Neuroscience Center, The First Hospital of Jilin University, Jilin University , Changchun , China.
Baizhuo Zhanga Department of Neurology , Neuroscience Center, The First Hospital of Jilin University, Jilin University , Changchun , China.
Xiaoou Hana Department of Neurology , Neuroscience Center, The First Hospital of Jilin University, Jilin University , Changchun , China.
Guangyu Duana Department of Neurology , Neuroscience Center, The First Hospital of Jilin University, Jilin University , Changchun , China.
Li Cuia Department of Neurology , Neuroscience Center, The First Hospital of Jilin University, Jilin University , Changchun , China.
Jilin University · CNFirst Hospital of Jilin University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic Creutzfeldt-Jakob disease (gCJD) accounts for approximately 10-15% of human prion diseases. It is an autosomal dominant disease caused by missense or insertion mutations of the gene that encodes prion protein (PRNP). In general, the manifestations and neuropathological changes of gCJD are similar to those of sporadic CJD (sCJD), and the diagnostic sensitivities of cerebrospinal fluid (CSF) markers, electroencephalography (EEG), and magnetic resonance imaging (MRI) are generally lower in gCJD than sCJD. Here we report on a 56-year-old Chinese woman who was diagnosed with gCJD and suspected to have thyroid cancer. The patient carried the glutamate to alanine substitution at codon 196 (E196A) of PRNP, which is quite a rare mutation and has only been reported in China. To our knowledge, this is the fourth case of E196A gCJD in the world. Here, we compared the manifestations and assistant examinations of the current patient with those of three previously reported Chinese patients with E196A gCJD in order to illustrate the common features of E196A gCJD.

Indexed as

Point MutationAgedAsian PeopleCreutzfeldt-Jakob SyndromeFemaleHumansPrion ProteinsPrion ProteinsPRNP protein, humanE196AGenetic Creutzfeldt-Jakob diseasemutationPRNP

Identifiers

PMID31238786
PMCPMC6629187
OpenAlexW2954300446

What OpenQuestion holds

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LicenceCC BY
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.