Evidence map›Paper›PMID 37900245›Full record

ArticleWorld journal of clinical cases2023

Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report.

Rui-Han Liu, Xin-Yu Wang, Yuan-Yuan Jia, Xing-Chen Wang, Min Xia, Qiong Nie, Jia Guo, Qing-Xia Kong

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

Article in World journal of clinical cases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 79% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

8 authors at 1 institution in 1 country.

Rui-Han LiuDepartment of Pediatrics, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong Province, China.
Xin-Yu WangClinical Medical College, Jining Medical University, Jining 272000, Shandong Province, China.
Yuan-Yuan JiaDepartment of Neurology, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong Province, China.
Xing-Chen WangCheeloo College of Medicine, Shandong University, Jinan 250012, Shandong Province, China.
Min XiaDepartment of Neurology, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong Province, China.
Qiong NieClinical Medical College, Jining Medical University, Jining 272000, Shandong Province, China.
Jia GuoClinical Medical College, Jining Medical University, Jining 272000, Shandong Province, China.
Qing-Xia KongDepartment of Neurology, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong Province, China. kxdqy8@sohu.com.
Affiliated Hospital of Jining Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSpinocerebellar ataxia recessive type 7 (SCAR7) is a rare clinical manifestation beginning in childhood or adolescence. SCAR7 is caused by tripeptidyl peptidase 1 ( CASE SUMMARY: Here, we describe a 25-year-old female patient in China who presented with increasing difficulty walking, falling easily, shaking limbs, instability holding items, slurred speech, coughing when drinking, palpitations, and frequent hunger and overeating. Magnetic resonance imaging showed cerebellar atrophy. Whole exome sequencing detected two compound heterozygous mutations in the

conclusionWe report the first case of SCAR7 from China. We also identify novel compound heterozygous mutations in the

Indexed as

Case reportCompound heterozygous variantSpinocerebellar ataxia recessive type 7Tripeptidyl peptidase 1

Identifiers

PMID37900245
PMCPMC10601013
OpenAlexW4386745326

What OpenQuestion holds

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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.