Evidence map›Paper›PMID 30996196›Full record

ArticleInternal medicine (Tokyo, Japan)2019

Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene.

Haitian Nan, Ryusuke Takaki, Keisuke Shimozono, Yuta Ichinose, Kishin Koh, Yoshihisa Takiyama

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2019. 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

6 authors.

Haitian NanDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan.
Ryusuke TakakiDepartment of Neurology, Iida Hospital, Japan.
Keisuke ShimozonoDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan.
Yuta IchinoseDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan.
Kishin KohDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan.
Yoshihisa TakiyamaDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) with mutations in the MAPT gene is a hereditary neurodegenerative tauopathy with various clinical phenotypes. We herein report the first Japanese patient with FTDP-17 caused by an IVS10+3G>A mutation in the MAPT gene, which is linked to an H1M haplotype. The present study suggests that the IVS10+3G>A mutation in the MAPT gene can have originated from a non-Caucasian population. In the disease course, myoclonus and respiratory failure can be observed. This study may expand on the clinical and genetic findings for FTDP-17 with mutations in the MAPT gene.

Indexed as

FamilyGenetic Predisposition to DiseaseMutationPhenotypeAdultAgedAged, 80 and overChromosomes, Human, Pair 17FemaleFrontotemporal DementiaHumansJapanMaleMiddle AgedParkinsonian Disorderstau ProteinsMAPT protein, humantau ProteinsFTDP-17H1M haplotypeIVS10+3G>A mutationMAPTnon-Caucasian

Identifiers

PMID30996196
PMCPMC6746651

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.