Evidence map›Paper›PMID 33370991›Full record

ArticleBMJ case reports2020

Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis.

Jordan Burgess, Diba Behzad-Noori, Cheryl Longman, Kathryn Brennan

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

Article in BMJ case reports, 2020. 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, top 73% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

4 authors at 2 institutions in 1 country.

Jordan BurgessNeurology, NHS Glasgow and Clyde South Glasgow University Hospitals NHS Trust, Glasgow, UK Jordanleeburgess@gmail.com.
Diba Behzad-NooriMedical School, King's College London, London, UK.
Cheryl LongmanGenetics, NHS Glasgow and Clyde South Glasgow University Hospitals NHS Trust, Glasgow, UK.
Kathryn BrennanNeurology, NHS Glasgow and Clyde South Glasgow University Hospitals NHS Trust, Glasgow, UK.
NHS Greater Glasgow and Clyde · GBKing's College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present the case of a 29-year-old south Asian man born of consanguineous marriage, presenting with ataxia, peripheral neuropathy and cognitive impairment. An initial diagnosis of coeliac disease was thought to explain the pertinent clinical features; however, further investigation led to an additional diagnosis of the rare yet treatable autosomal recessive condition, cerebrotendinous xanthomatosis. With both conditions employing highly diverse and overlapping clinical phenotypes, this contributed to a delay in diagnosis. Our report highlights the importance of paying close attention to both the clinical phenotype and family history.

Indexed as

Administration, OralAdultAtaxiaCeliac DiseaseChenodeoxycholic AcidCholestanetriol 26-MonooxygenaseCognitive DysfunctionConsanguinityDelayed DiagnosisDiet, Gluten-FreeDNA Mutational AnalysisHumansMaleMedical History TakingMutation, MissensePedigreeChenodeoxycholic AcidCholestanetriol 26-MonooxygenaseCYP27A1 protein, humanclinical neurophysiologycoeliac diseaseneuro geneticsneurologyneurology (drugs and medicines)

Identifiers

PMID33370991
PMCPMC7757489
OpenAlexW3114011083

What OpenQuestion holds

Textmetadata
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.