Evidence map›Paper›PMID 36312475›Full record

ArticleWorld journal of clinical cases2022

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report.

Yue-Yue Chang, Chuan-Qing Yu, Lei Zhu

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

Article in World journal of clinical cases, 2022. 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

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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

3 authors.

Yue-Yue ChangDepartment of Neurology, The First Affiliated Hospital of Anhui University of Science and Technology, First People's Hospital of Huainan, Huainan 232007, Anhui Province, China.
Chuan-Qing YuDepartment of Neurology, The First Affiliated Hospital of Anhui University of Science and Technology, First People's Hospital of Huainan, Huainan 232007, Anhui Province, China. yuchuanqing1969@126.com.
Lei ZhuDepartment of Neurology, The First Affiliated Hospital of Anhui University of Science and Technology, First People's Hospital of Huainan, Huainan 232007, Anhui Province, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCerebrotendinous xanthomatosis is an autosomal recessive disorder of lipid metabolism caused by the mutation of the CASE SUMMARY: Here we report the clinical, biochemical, and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis. The patient developed ataxia and had the typical symptoms of juvenile cataracts, tendon xanthomata, and progressive nervous system dysfunction. Magnetic resonance imaging of the brain revealed bilateral dentate nucleus lesions and white matter abnormalities. This patient was misdiagnosed for 2 years resulting in severe neurological complications. After 2 years of chenodeoxycholic acid treatment, she still presented with ataxia and dysarthria. The pathogenic sites of

conclusionCerebrotendinous xanthomatosis requires a multidisciplinary diagnosis that must be made early to avoid progressive neurological degeneration. c.1263+1G>T is a known mutation, but c.255+1G>T is a rare mutation site.

Indexed as

AtaxiaCase reportCerebrotendinous xanthomatosisCYP27A1 geneJuvenile cataractsLipid metabolismTendon xanthoma

Identifiers

PMID36312475
PMCPMC9602241

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