Evidence map›Paper›PMID 19933510›Full record

ReviewBrain : a journal of neurology2009

A developmental and genetic classification for midbrain-hindbrain malformations.

A James Barkovich, Kathleen J Millen, William B Dobyns

Open access · bronzeAbstract readReview
In one paragraph

Review in Brain : a journal of neurology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
103citing papers in PubMed, 3 pooled it
25.1field-weighted citation impact, top 1% 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

103 citing papers in PubMed, 3 syntheses or guidelines pooled it, 281 citations in OpenAlex.

  1. From gene to geometry: the molecular morphogenesis of the fourth ventricle angle and its role in predicting brainstem dysfunction among Chiari I malformation patients.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026
    Pooled it
  2. Pooled it
  3. Atrazine and pregnancy outcomes: a systematic review of epidemiologic evidence.Birth defects research. Part B, Developmental and reproductive toxicology · 2014
    Pooled it
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  9. Regulation of INPP5E in Ciliogenesis, Development, and Disease.International journal of biological sciences · 2025
    Review
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  16. L1CAM variants cause two distinct imaging phenotypes on fetal MRI.Annals of clinical and translational neurology · 2021
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43 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 1 country.

A James BarkovichNeuroradiology Room L371, University of California at San Francisco, 505 Parnassus Avenue, San Francisco, CA 94143-0628, USA. Jim.Barkovich@radiology.ucsf.edu
Kathleen J Millen
William B Dobyns
University of Chicago · USUniversity of California, San Francisco · US

Funding

De novo copy number variation and gene discovery in human brain malformationsR01NS058721 · NINDS · UNIVERSITY OF CHICAGO · PI ARGILLI, EMANUELA · 2008 to 2025
$10.9M
The Genetic Basis of Mid-Hindbrain MalformationsR01NS050375 · NINDS · UNIVERSITY OF MINNESOTA · PI DOBYNS, WILLIAM B. · 2005 to 2019
$9.9M
Human Epilepsy Genetics Neuronal Migration DisordersR37NS035129 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Christopher A. Walsh · 2002 to 2026
$6.5M
MRI, MRSI, AND DTI OF BRAIN INJURY IN PRETERM NEONATESR01NS046432 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BARKOVICH, ANTHONY JAMES · 2004 to 2013
$4.3M
Roles of Zic Genes in Vertebrate Hindbrain DevelopmentR01NS050386 · NINDS · UNIVERSITY OF CHICAGO · PI MILLEN, KATHLEEN JOYCE · 2004 to 2010
$2.1M
Mouse models of human cerebellar malformationsR56NS050386 · NINDS · UNIVERSITY OF CHICAGO · PI MILLEN, KATHLEEN JOYCE · 2008 to 2008
$324k
NINDS NIH HHS NS050386NINDS NIH HHS R01-NS050375NINDS NIH HHS R01 NS050386NINDS NIH HHS R01 NS058721NINDS NIH HHS R01-NS058721NINDS NIH HHS R01 NS46432NINDS NIH HHS R37 NS35129NINDS NIH HHS R56 NS050386
6 · The paper itself

Abstract

Advances in neuroimaging, developmental biology and molecular genetics have increased the understanding of developmental disorders affecting the midbrain and hindbrain, both as isolated anomalies and as part of larger malformation syndromes. However, the understanding of these malformations and their relationships with other malformations, within the central nervous system and in the rest of the body, remains limited. A new classification system is proposed, based wherever possible, upon embryology and genetics. Proposed categories include: (i) malformations secondary to early anteroposterior and dorsoventral patterning defects, or to misspecification of mid-hindbrain germinal zones; (ii) malformations associated with later generalized developmental disorders that significantly affect the brainstem and cerebellum (and have a pathogenesis that is at least partly understood); (iii) localized brain malformations that significantly affect the brain stem and cerebellum (pathogenesis partly or largely understood, includes local proliferation, cell specification, migration and axonal guidance); and (iv) combined hypoplasia and atrophy of putative prenatal onset degenerative disorders. Pertinent embryology is discussed and the classification is justified. This classification will prove useful for both physicians who diagnose and treat patients with these disorders and for clinical scientists who wish to understand better the perturbations of developmental processes that produce them. Importantly, both the classification and its framework remain flexible enough to be easily modified when new embryologic processes are described or new malformations discovered.

Indexed as

Body PatterningFetal DiseasesGene Expression Regulation, DevelopmentalHumansMesencephalonNervous System MalformationsNeural TubeNeurodegenerative DiseasesNeurogenesisRhombencephalon

Identifiers

PMID19933510
PMCPMC2792369
OpenAlexW2149995096

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.