Evidence map›Paper›PMID 34046764›Full record

ArticleNeurogenetics2021

Does genetic anticipation occur in familial Alexander disease?

Camille K Hunt, Ahmad Al Khleifat, Ella Burchill, Joerg Ederle, Ammar Al-Chalabi, Jemeen Sreedharan

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

Article in Neurogenetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 44% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. 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

6 authors at 2 institutions in 1 country.

Camille K Hunt *Department of Basic and Clinical Neuroscience, King's College London, London, UK.
Ahmad Al Khleifat *Department of Basic and Clinical Neuroscience, King's College London, London, UK.
Ella BurchillDepartment of Basic and Clinical Neuroscience, King's College London, London, UK.
Joerg EderleDepartment of Neuroradiology, King's College Hospital NHS Trust, London, UK.
Ammar Al-ChalabiDepartment of Basic and Clinical Neuroscience, King's College London, London, UK.
Jemeen SreedharanDepartment of Basic and Clinical Neuroscience, King's College London, London, UK. Jemeen.sreedharan@kcl.ac.uk.ORCID 0000-0002-8682-6844
King's College London · GBKing's College Hospital · GB

Funding

Department of HealthMedical Research Council MR/L501529/1Medical Research Council MR/R024804/1
6 · The paper itself

Abstract

Alexander Disease (AxD) is a rare leukodystrophy caused by missense mutations of glial fibrillary acidic protein (GFAP). Primarily seen in infants and juveniles, it can present in adulthood. We report a family with inherited AxD in which the mother presented with symptoms many years after her daughter. We reviewed the age of onset in all published cases of familial AxD and found that 32 of 34 instances of parent-offspring pairs demonstrated an earlier age of onset in offspring compared to the parent. We suggest that genetic anticipation occurs in familial AxD and speculate that genetic mosaicism could explain this phenomenon.

Indexed as

Alexander DiseaseAnticipation, GeneticBrainDisease ProgressionFemaleGlial Fibrillary Acidic ProteinHumansMiddle AgedMutationGFAP protein, humanGlial Fibrillary Acidic ProteinAlexander diseaseAnticipationGFAPMosaicism

Identifiers

PMID34046764
PMCPMC8241638
OpenAlexW3165781263

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.