Evidence map›Paper›PMID 34286134›Full record

ArticleHeliyon2021

Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family.

Ali S Shalash, Thomas W Rösler, Ibrahim Y Abdelrahman, Hatem S Abulmakarem, Stefanie H Müller, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U Höglinger, Mohamed Salama

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

Article in Heliyon, 2021. 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
0.1field-weighted citation impact, top 57% 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, 4 citations in OpenAlex.

  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

9 authors at 7 institutions in 3 countries.

Ali S ShalashDepartment of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Thomas W RöslerDepartment of Neurology, School of Medicine, Technical University Munich, Munich, Germany.
Ibrahim Y AbdelrahmanRadiation Biology Department, National Center for Radiation Research and Technology, Egyptian Atomic Energy Authority, Cairo, Egypt.
Hatem S AbulmakaremDepartment of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Stefanie H MüllerInstitute of Health Informatics, UCL, London, UK.
Franziska HopfnerDepartment of Neurology, Hannover Medical School, Hannover, Germany.
Gregor KuhlenbäumerDepartment of Neurology, Kiel University, Kiel, Germany.
Günter U HöglingerDepartment of Neurology, School of Medicine, Technical University Munich, Munich, Germany.
Mohamed SalamaInstitute of Global Health and Human Ecology, American University in Cairo (AUC), Cairo, Egypt.
Ain Shams University · EGGerman Center for Neurodegenerative Diseases · DEChristian-Albrechts-Universität zu Kiel · DEEgyptian Atomic Energy Authority · EGMansoura University · EGMedizinische Hochschule Hannover · DEUniversity College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare hereditary neurodegenerative disease characterized by an accumulation of iron within the brain. In the present report, we describe a family with 4 affected siblings presenting with variable clinical manifestations, e.g., parkinsonian features, dystonia and slow disease progression over 5 years. Exome sequencing revealed a causative variant in the pantothenate kinase 2 gene (

Indexed as

DystoniaGeneticsNeurodegeneration iron accumulationPANK2Pantothenate kinase-associated neurodegenerationParkinsonism

Identifiers

PMID34286134
PMCPMC8273219
OpenAlexW3139134152

What OpenQuestion holds

Textmetadata
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.