GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease.

Filippo Pinto E Vairo, Nicole Bertsch, Eric W Klee, Ralitza H Gavrilova

Abstract readCase ReportsLetter

In one paragraph

Article in Acta neuropathologica communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it

0cells of the map it votes in

4citing 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

4 citing papers in PubMed.

Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease.Journal of neurology, neurosurgery, and psychiatry · 2025
Article
Genotype-Phenotype Association for 14Neurology. Genetics · 2025
Article
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.Human mutation · 2020
Article
Effects of Xiaoyaosan on Depressive-Like Behaviors in Rats With Chronic Unpredictable Mild Stress Through HPA Axis Induced Astrocytic Activities.Frontiers in psychiatry · 2020
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

4 authors.

Filippo Pinto E VairoCenter for Individualized Medicine, Mayo Clinic, Harwick 3, 200 First Street SW, Rochester, MN, 55905, USA.

Nicole BertschDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.

Eric W KleeCenter for Individualized Medicine, Mayo Clinic, Harwick 3, 200 First Street SW, Rochester, MN, 55905, USA. klee.eric@mayo.edu.

Ralitza H GavrilovaCenter for Individualized Medicine, Mayo Clinic, Harwick 3, 200 First Street SW, Rochester, MN, 55905, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Activin Receptors, Type IIAdultAgedAlexander DiseaseFamily HealthGlial Fibrillary Acidic ProteinHumansMagnetic Resonance ImagingMaleSuperior Olivary ComplexActivin Receptors, Type IIACVRL1 protein, humanGlial Fibrillary Acidic ProteinAdult-onset Alexander diseaseAlternative transcriptsGFAPSanger sequencing

Identifiers

PMID30355306

DOI10.1186/s40478-018-0616-z

PMCPMC6201530

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.