Genetic and neuroradiological heterogeneity of double cortex syndrome

Joseph G. Gleeson, Robert F. Luo, P. Ellen Grant, Renzo Guerrini, Peter R. Huttenlocher, Michel J. Berg, Stefano Ricci, Raffaella Cusmai, James Wheless, Samuel Berkovic, Ingrid Scheffer, William B. Dobyns, Christopher A. Walsh

Research output: Contribution to journalArticle

79 Citations (Scopus)

Abstract

Mutations in the X-linked doublecortin gene appear in many sporadic cases of double cortex (DC; also known as subcortical band heterotopia), a neuronal migration disorder causing epilepsy and mental retardation. The purpose of this study was to examine why a significant percentage of sporadic DC patients had been found not to harbor doublecortin mutations and to determine whether clinical features or magnetic resonance imaging scan appearance could distinguish between patients with and without doublecortin mutations. Magnetic resonance imaging scan analysis differentiated patients into the following four groups- anterior biased/global DC with doublecortin mutation (16 of 30; 53%), anterior biased/global DC without mutation (8 of 30; 27%), posterior biased DC without mutation (3 of 30; 10%), and limited/unilateral DC without mutation (3 of 30; 10%). The presence of these atypical phenotypes suggests that other genetic loci or mosaicism at the doublecortin locus may be responsible for this diversity of DC cases.

Original languageEnglish (US)
Pages (from-to)265-269
Number of pages5
JournalAnnals of Neurology
Volume47
Issue number2
DOIs
StatePublished - Feb 14 2000

Fingerprint

Classical Lissencephalies and Subcortical Band Heterotopias
Genetic Heterogeneity
Mutation
Group II Malformations of Cortical Development
Magnetic Resonance Imaging
X-Linked Genes
Genetic Loci
Mosaicism
Intellectual Disability
Epilepsy
Phenotype

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Gleeson, J. G., Luo, R. F., Grant, P. E., Guerrini, R., Huttenlocher, P. R., Berg, M. J., ... Walsh, C. A. (2000). Genetic and neuroradiological heterogeneity of double cortex syndrome. Annals of Neurology, 47(2), 265-269. https://doi.org/10.1002/1531-8249(200002)47:2<265::AID-ANA22>3.0.CO;2-N

Genetic and neuroradiological heterogeneity of double cortex syndrome. / Gleeson, Joseph G.; Luo, Robert F.; Grant, P. Ellen; Guerrini, Renzo; Huttenlocher, Peter R.; Berg, Michel J.; Ricci, Stefano; Cusmai, Raffaella; Wheless, James; Berkovic, Samuel; Scheffer, Ingrid; Dobyns, William B.; Walsh, Christopher A.

In: Annals of Neurology, Vol. 47, No. 2, 14.02.2000, p. 265-269.

Research output: Contribution to journalArticle

Gleeson, JG, Luo, RF, Grant, PE, Guerrini, R, Huttenlocher, PR, Berg, MJ, Ricci, S, Cusmai, R, Wheless, J, Berkovic, S, Scheffer, I, Dobyns, WB & Walsh, CA 2000, 'Genetic and neuroradiological heterogeneity of double cortex syndrome', Annals of Neurology, vol. 47, no. 2, pp. 265-269. https://doi.org/10.1002/1531-8249(200002)47:2<265::AID-ANA22>3.0.CO;2-N
Gleeson, Joseph G. ; Luo, Robert F. ; Grant, P. Ellen ; Guerrini, Renzo ; Huttenlocher, Peter R. ; Berg, Michel J. ; Ricci, Stefano ; Cusmai, Raffaella ; Wheless, James ; Berkovic, Samuel ; Scheffer, Ingrid ; Dobyns, William B. ; Walsh, Christopher A. / Genetic and neuroradiological heterogeneity of double cortex syndrome. In: Annals of Neurology. 2000 ; Vol. 47, No. 2. pp. 265-269.
@article{f7ee3bfef28a46eba45ba6d9290e8ad8,
title = "Genetic and neuroradiological heterogeneity of double cortex syndrome",
abstract = "Mutations in the X-linked doublecortin gene appear in many sporadic cases of double cortex (DC; also known as subcortical band heterotopia), a neuronal migration disorder causing epilepsy and mental retardation. The purpose of this study was to examine why a significant percentage of sporadic DC patients had been found not to harbor doublecortin mutations and to determine whether clinical features or magnetic resonance imaging scan appearance could distinguish between patients with and without doublecortin mutations. Magnetic resonance imaging scan analysis differentiated patients into the following four groups- anterior biased/global DC with doublecortin mutation (16 of 30; 53{\%}), anterior biased/global DC without mutation (8 of 30; 27{\%}), posterior biased DC without mutation (3 of 30; 10{\%}), and limited/unilateral DC without mutation (3 of 30; 10{\%}). The presence of these atypical phenotypes suggests that other genetic loci or mosaicism at the doublecortin locus may be responsible for this diversity of DC cases.",
author = "Gleeson, {Joseph G.} and Luo, {Robert F.} and Grant, {P. Ellen} and Renzo Guerrini and Huttenlocher, {Peter R.} and Berg, {Michel J.} and Stefano Ricci and Raffaella Cusmai and James Wheless and Samuel Berkovic and Ingrid Scheffer and Dobyns, {William B.} and Walsh, {Christopher A.}",
year = "2000",
month = "2",
day = "14",
doi = "10.1002/1531-8249(200002)47:2<265::AID-ANA22>3.0.CO;2-N",
language = "English (US)",
volume = "47",
pages = "265--269",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "2",

}

TY - JOUR

T1 - Genetic and neuroradiological heterogeneity of double cortex syndrome

AU - Gleeson, Joseph G.

AU - Luo, Robert F.

AU - Grant, P. Ellen

AU - Guerrini, Renzo

AU - Huttenlocher, Peter R.

AU - Berg, Michel J.

AU - Ricci, Stefano

AU - Cusmai, Raffaella

AU - Wheless, James

AU - Berkovic, Samuel

AU - Scheffer, Ingrid

AU - Dobyns, William B.

AU - Walsh, Christopher A.

PY - 2000/2/14

Y1 - 2000/2/14

N2 - Mutations in the X-linked doublecortin gene appear in many sporadic cases of double cortex (DC; also known as subcortical band heterotopia), a neuronal migration disorder causing epilepsy and mental retardation. The purpose of this study was to examine why a significant percentage of sporadic DC patients had been found not to harbor doublecortin mutations and to determine whether clinical features or magnetic resonance imaging scan appearance could distinguish between patients with and without doublecortin mutations. Magnetic resonance imaging scan analysis differentiated patients into the following four groups- anterior biased/global DC with doublecortin mutation (16 of 30; 53%), anterior biased/global DC without mutation (8 of 30; 27%), posterior biased DC without mutation (3 of 30; 10%), and limited/unilateral DC without mutation (3 of 30; 10%). The presence of these atypical phenotypes suggests that other genetic loci or mosaicism at the doublecortin locus may be responsible for this diversity of DC cases.

AB - Mutations in the X-linked doublecortin gene appear in many sporadic cases of double cortex (DC; also known as subcortical band heterotopia), a neuronal migration disorder causing epilepsy and mental retardation. The purpose of this study was to examine why a significant percentage of sporadic DC patients had been found not to harbor doublecortin mutations and to determine whether clinical features or magnetic resonance imaging scan appearance could distinguish between patients with and without doublecortin mutations. Magnetic resonance imaging scan analysis differentiated patients into the following four groups- anterior biased/global DC with doublecortin mutation (16 of 30; 53%), anterior biased/global DC without mutation (8 of 30; 27%), posterior biased DC without mutation (3 of 30; 10%), and limited/unilateral DC without mutation (3 of 30; 10%). The presence of these atypical phenotypes suggests that other genetic loci or mosaicism at the doublecortin locus may be responsible for this diversity of DC cases.

UR - http://www.scopus.com/inward/record.url?scp=0033967577&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033967577&partnerID=8YFLogxK

U2 - 10.1002/1531-8249(200002)47:2<265::AID-ANA22>3.0.CO;2-N

DO - 10.1002/1531-8249(200002)47:2<265::AID-ANA22>3.0.CO;2-N

M3 - Article

C2 - 10665503

AN - SCOPUS:0033967577

VL - 47

SP - 265

EP - 269

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 2

ER -