Evidence map›Paper›PMID 24926531›Full record

ArticleCortex; a journal devoted to the study of the nervous system and behavior2014

The DCDC2/intron 2 deletion and white matter disorganization: focus on developmental dyslexia.

Cecilia Marino, Paola Scifo, Pasquale A Della Rosa, Sara Mascheretti, Andrea Facoetti, Maria L Lorusso, Roberto Giorda, Monica Consonni, Andrea Falini, Massimo Molteni and 2 more

Open access · greenAbstract read
In one paragraph

Article in Cortex; a journal devoted to the study of the nervous system and behavior, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 1 pooled it
5.4field-weighted citation impact, top 4% 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

31 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.

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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

12 authors at 8 institutions in 3 countries.

Cecilia MarinoDepartment of Child Neuropsychiatry, Scientific Institute Eugenio Medea, Bosisio Parini, Italy; Centre de Recherche de l'Institut Universitaire en Santé Mentale de Québec, Québec, Canada; Department of Psychiatry and Neuroscience, Université Laval, Québec, Canada.
Paola ScifoC.E.R.M.A.C. (Centro di Risonanza Magnetica ad Alto Campo), Milan, Italy; Department of Nuclear Medicine San Raffaele Hospital and Division of Neuroscience, Scientific Institute San Raffaele, Milan, Italy.
Pasquale A Della RosaInstitute of Molecular Bioimaging and Physiology, National Research Council, Milan, Italy.
Sara MascherettiDepartment of Child Neuropsychiatry, Scientific Institute Eugenio Medea, Bosisio Parini, Italy.
Andrea FacoettiDepartment of Child Neuropsychiatry, Scientific Institute Eugenio Medea, Bosisio Parini, Italy; Department of General Psychology and Center for Cognitive Science, University of Padova, Padova, Italy.
Maria L LorussoDepartment of Child Neuropsychiatry, Scientific Institute Eugenio Medea, Bosisio Parini, Italy.
Roberto GiordaMolecular Biology Laboratory, Scientific Institute Eugenio Medea, Bosisio Parini, Italy.
Monica ConsonniDepartment of Nuclear Medicine San Raffaele Hospital and Division of Neuroscience, Scientific Institute San Raffaele, Milan, Italy.
Andrea FaliniC.E.R.M.A.C. (Centro di Risonanza Magnetica ad Alto Campo), Milan, Italy.
Massimo MolteniDepartment of Child Neuropsychiatry, Scientific Institute Eugenio Medea, Bosisio Parini, Italy.
Jeffrey R GruenDepartment of Pediatrics & Genetics, Yale Child Health Research Center, Yale School of Medicine, New Haven, USA.
Daniela PeraniC.E.R.M.A.C. (Centro di Risonanza Magnetica ad Alto Campo), Milan, Italy; Department of Nuclear Medicine San Raffaele Hospital and Division of Neuroscience, Scientific Institute San Raffaele, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy. Electronic address: daniela.perani@hsr.it.
IRCCS Eugenio Medea · ITVita-Salute San Raffaele University · ITConsorzio Milano Ricerche · ITInstitute of Molecular Bioimaging and Physiology · ITInstitut Universitaire en Santé Mentale de Québec · CAPediatrics and Genetics · USSan Raffaele University of Rome · ITUniversity of Padua · IT

Funding

VALIDITY OF SUBTYPES OF ADHDP50HD027802 · NICHD · UNIVERSITY OF COLORADO AT BOULDER · PI ERIK G WILLCUTT · 1990 to 2026
$44.9M
Discovery of the 6p21.3 Reading Disability GeneR01NS043530 · NINDS · YALE UNIVERSITY · PI GRUEN, JEFFREY R · 2003 to 2010
$4.3M
NICHD NIH HHS P50 HD027802NINDS NIH HHS R01 NS043530
6 · The paper itself

Abstract

introductionThe DCDC2 gene is involved in neuronal migration. Heterotopias have been found within the white matter of DCDC2-knockdown rats. A deletion in DCDC2/intron 2 (DCDC2d), which encompasses a regulatory region named 'regulatory element associated with dyslexia 1' (READ1), increases the risk for dyslexia. We hypothesized that DCDC2d can be associated to alterations of the white matter structure in general and in dyslexic brains.

methodsBased on a full-factorial analysis of covariance (ANCOVA) model, we investigated voxel-based diffusion tensor imaging (VB-DTI) data of four groups of subjects: dyslexia with/without DCDC2d, and normal readers with/without DCDC2d. We also tested DCDC2d effects upon correlation patterns between fractional anisotropy (FA) and reading scores.

resultsWe found that FA was reduced in the left arcuate fasciculus and splenium of the corpus callosum in subjects with versus without DCDC2d, irrespective of dyslexia. Subjects with dyslexia and DCDC2d showed reduced FA, mainly in the left hemisphere and in the corpus callosum; their counterpart without DCDC2d showed similar FA alterations. Noteworthy, a conjunction analysis in impaired readers revealed common regions with lower FA mainly in the left hemisphere. When we compared subjects with dyslexia with versus without DCDC2d, we found lower FA in the inferior longitudinal fasciculus and genu of the corpus callosum, bilaterally. Normal readers with versus without DCDC2d had FA increases and decreases in both the right and left hemisphere. DISCUSSION: The major contribution of our study was to provide evidence relating genes, brain and behaviour. Overall, our findings support the hypothesis that DCDC2d is associated with altered FA. In normal readers, DCDC2-related anatomical patterns may mark some developmental cognitive vulnerability to learning disabilities. In subjects with dyslexia, DCDC2d accounted for both common - mainly located in the left hemisphere - and unique - a more severe and extended pattern - alterations of white matter fibre tracts.

Indexed as

AdolescentAdultDiffusion Tensor ImagingDyslexiaFemaleHumansIntronsMaleMicrotubule-Associated ProteinsNerve NetReadingWhite MatterYoung AdultDCDC2 protein, humanMicrotubule-Associated ProteinsDCDC2Developmental dyslexiaDiffusion tensor imagingNeuronal migrationREAD1

Identifiers

PMID24926531
PMCPMC5975637
OpenAlexW2031846748

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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.