Evidence map›Paper›PMID 29574624›Full record

ArticleMetabolic brain disease2018

Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.

Michal Inbar-Feigenberg, Susan Blaser, Cynthia Hawkins, Patrick Shannon, Stacy Hewson, David Chitayat

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Metabolic brain disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.6field-weighted citation impact, top 35% 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

6 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Clinico-Genetic Spectrum of POLG1 Mutation Carriers from India.Journal of molecular neuroscience : MN · 2022
    Article
  5. A novel homozygous variant inJIMD reports · 2021
    Article
  6. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors at 4 institutions in 1 country.

Michal Inbar-FeigenbergDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. michal.inbar-feigenberg@sickkids.ca.
Susan BlaserDepartment of Diagnostic Imaging, Division of Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Cynthia HawkinsDepartment of Paediatric Laboratory Medicine, Division of Neuropathology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Patrick ShannonDepartment of Pathology & Lab Medicine, Division of Neuropathology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
Stacy HewsonDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
David ChitayatDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Hospital for Sick Children · CAMount Sinai Hospital · CASickKids Foundation · CAUniversity of Toronto · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report the prenatal findings of severe cerebellar growth arrest in two siblings with POLG1 mutations. The first presented with seizures and lactic acidosis immediately after premature birth and was diagnosed with mitochondrial disease on muscle biopsy. Molecular DNA analysis confirmed homozygous missense mutation in the POLG1 gene. The pregnancy of the second sibling was monitored closely by repeat fetal ultrasounds since the parents declined invasive testing. A detailed fetal ultrasound at 19 weeks gestation showed a small cerebellum with transcerebellar diameter (TCD) on axial cranial imaging, measuring below the 5th centile for gestational age. Molecular analysis confirmed the same homozygous familial mutation in the POLG1gene. This report further delineates the phenotypic features of the POLG related disorders and expands it to the prenatal era. Subsequent pregnancies were monitored by molecular analysis, using chorionic villus sampling (CVS).

Indexed as

Mutation, MissenseCerebellar DiseasesDNA Polymerase gammaHumansInfant, NewbornMaleMitochondriaMitochondrial DiseasesUltrasonography, PrenatalDNA Polymerase gammaPOLG protein, humanCerebellar growth arrestFetalMitochondrial disorderMRIPOLG related disordersPolymerase gamma (POLG1) genePrenatal diagnosis

Identifiers

PMID29574624
OpenAlexW2794127868

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.