Evidence map›Paper›PMID 33047326›Full record

ReviewClinical genetics2021

Genetic disorders with central nervous system white matter abnormalities: An update.

Anju Shukla, Parneet Kaur, Dhanya Lakshmi Narayanan, Michelle C do Rosario, Rajagopal Kadavigere, Katta Mohan Girisha

Abstract readReview
In one paragraph

Review in Clinical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. [Research advances in the clinical genetics of leukodystrophy in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022
    Review
  9. White matter dementia then… and now.Frontiers in neurology · 2022
    Review
  10. 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.

Anju ShuklaDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.ORCID 0000-0003-2471-4094
Parneet KaurDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Dhanya Lakshmi NarayananDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.ORCID 0000-0002-1627-3252
Michelle C do RosarioDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Rajagopal KadavigereDepartment of Radiodiagnosis, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Katta Mohan GirishaDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.ORCID 0000-0002-0139-8239

Funding

Genetic Diagnosis of Neurodevelopmental Disorders in IndiaR01HD093570 · NICHD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BIELAS, STEPHANIE LEE · 2018 to 2024
$2.3M
NICHD NIH HHS R01 HD093570
6 · The paper itself

Abstract

Several genetic disorders have variable degree of central nervous system white matter abnormalities. We retrieved and reviewed 422 genetic conditions with prominent and consistent involvement of white matter from the literature. We herein describe the current definitions, classification systems, clinical spectrum, neuroimaging findings, genomics, and molecular mechanisms of these conditions. Though diagnosis for most of these disorders relies mainly on genomic tests, specifically exome sequencing, we collate several clinical and neuroimaging findings still relevant in diagnosis of clinically recognizable disorders. We also review the current understanding of pathophysiology and therapeutics of these disorders.

Indexed as

GenomicsCentral Nervous System DiseasesExome SequencingHumansLeukoencephalopathiesMagnetic Resonance ImagingMass ScreeningNervous System MalformationsWhite Matterdelayed myelinationdemyelinationgenetic leukoencephalopathieshypomyeliantioninherited white matter disordersleukodystrophiesleukoencephalopathymyelination

Identifiers

PMID33047326
PMCPMC9951823

What OpenQuestion holds

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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.