Bilateral generalized polymicrogyria (BGP): A distinct syndrome of cortical malformation

B. S. Chang, X. Piao, Caterina Giannini, Gregory D Cascino, I. Scheffer, C. G. Woods, M. Topcu, K. Tezcan, A. Bodell, R. J. Leventer, A. J. Barkovich, P. E. Grant, C. A. Walsh

Research output: Contribution to journalArticle

50 Citations (Scopus)

Abstract

Background: Syndromes of bilateral symmetric polymicrogyria include an autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP), in which the malformation is most severe rostrally. The authors describe a new syndrome they have termed "bilateral generalized polymicrogyria" (BGP), in which the malformation occurs in a generalized distribution but is often most severe in the perisylvian regions. Methods: Patients with bilateral polymicrogyria were identified from multiple medical centers worldwide. The diagnosis of BGP was based on findings from conventional spin echo MRI and, in one case, postmortem neuropathologic findings. Genetic analysis was performed for those patients from consanguineous pedigrees and those with multiple affected siblings to rule out linkage to the BFPP locus on chromosome 16q. Results: Twelve patients were identified with BGP. Clinical features included cognitive and motor delay as well as seizures. Some specific features characteristic of other known bilateral polymicrogyria syndromes, such as pseudobulbar palsy and dysconjugate gaze, were not commonly seen in these patients. Radiologically, polymicrogyria appeared wide-spread but was often most severe in the perisylvian regions. Pathologic examination in one case revealed a diffusely thin and excessively folded cerebral cortex lacking normal six-layered architecture. Seven patients subjected to genetic analysis did not demonstrate linkage to the BFPP locus. Conclusions: BGP is a distinct syndrome of cortical malformation. Several features allow BGP to be distinguished from other disorders on the growing list of bilateral symmetric polymicrogyria syndromes.

Original languageEnglish (US)
Pages (from-to)1722-1728
Number of pages7
JournalNeurology
Volume62
Issue number10
StatePublished - May 25 2004

Fingerprint

Pseudobulbar Palsy
Polymicrogyria
Pedigree
Cerebral Cortex
Siblings
Seizures
Chromosomes
Bilateral Frontoparietal Polymicrogyria

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Chang, B. S., Piao, X., Giannini, C., Cascino, G. D., Scheffer, I., Woods, C. G., ... Walsh, C. A. (2004). Bilateral generalized polymicrogyria (BGP): A distinct syndrome of cortical malformation. Neurology, 62(10), 1722-1728.

Bilateral generalized polymicrogyria (BGP) : A distinct syndrome of cortical malformation. / Chang, B. S.; Piao, X.; Giannini, Caterina; Cascino, Gregory D; Scheffer, I.; Woods, C. G.; Topcu, M.; Tezcan, K.; Bodell, A.; Leventer, R. J.; Barkovich, A. J.; Grant, P. E.; Walsh, C. A.

In: Neurology, Vol. 62, No. 10, 25.05.2004, p. 1722-1728.

Research output: Contribution to journalArticle

Chang, BS, Piao, X, Giannini, C, Cascino, GD, Scheffer, I, Woods, CG, Topcu, M, Tezcan, K, Bodell, A, Leventer, RJ, Barkovich, AJ, Grant, PE & Walsh, CA 2004, 'Bilateral generalized polymicrogyria (BGP): A distinct syndrome of cortical malformation', Neurology, vol. 62, no. 10, pp. 1722-1728.
Chang, B. S. ; Piao, X. ; Giannini, Caterina ; Cascino, Gregory D ; Scheffer, I. ; Woods, C. G. ; Topcu, M. ; Tezcan, K. ; Bodell, A. ; Leventer, R. J. ; Barkovich, A. J. ; Grant, P. E. ; Walsh, C. A. / Bilateral generalized polymicrogyria (BGP) : A distinct syndrome of cortical malformation. In: Neurology. 2004 ; Vol. 62, No. 10. pp. 1722-1728.
@article{da821c30aa4941c78260c5a668f4ed06,
title = "Bilateral generalized polymicrogyria (BGP): A distinct syndrome of cortical malformation",
abstract = "Background: Syndromes of bilateral symmetric polymicrogyria include an autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP), in which the malformation is most severe rostrally. The authors describe a new syndrome they have termed {"}bilateral generalized polymicrogyria{"} (BGP), in which the malformation occurs in a generalized distribution but is often most severe in the perisylvian regions. Methods: Patients with bilateral polymicrogyria were identified from multiple medical centers worldwide. The diagnosis of BGP was based on findings from conventional spin echo MRI and, in one case, postmortem neuropathologic findings. Genetic analysis was performed for those patients from consanguineous pedigrees and those with multiple affected siblings to rule out linkage to the BFPP locus on chromosome 16q. Results: Twelve patients were identified with BGP. Clinical features included cognitive and motor delay as well as seizures. Some specific features characteristic of other known bilateral polymicrogyria syndromes, such as pseudobulbar palsy and dysconjugate gaze, were not commonly seen in these patients. Radiologically, polymicrogyria appeared wide-spread but was often most severe in the perisylvian regions. Pathologic examination in one case revealed a diffusely thin and excessively folded cerebral cortex lacking normal six-layered architecture. Seven patients subjected to genetic analysis did not demonstrate linkage to the BFPP locus. Conclusions: BGP is a distinct syndrome of cortical malformation. Several features allow BGP to be distinguished from other disorders on the growing list of bilateral symmetric polymicrogyria syndromes.",
author = "Chang, {B. S.} and X. Piao and Caterina Giannini and Cascino, {Gregory D} and I. Scheffer and Woods, {C. G.} and M. Topcu and K. Tezcan and A. Bodell and Leventer, {R. J.} and Barkovich, {A. J.} and Grant, {P. E.} and Walsh, {C. A.}",
year = "2004",
month = "5",
day = "25",
language = "English (US)",
volume = "62",
pages = "1722--1728",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "10",

}

TY - JOUR

T1 - Bilateral generalized polymicrogyria (BGP)

T2 - A distinct syndrome of cortical malformation

AU - Chang, B. S.

AU - Piao, X.

AU - Giannini, Caterina

AU - Cascino, Gregory D

AU - Scheffer, I.

AU - Woods, C. G.

AU - Topcu, M.

AU - Tezcan, K.

AU - Bodell, A.

AU - Leventer, R. J.

AU - Barkovich, A. J.

AU - Grant, P. E.

AU - Walsh, C. A.

PY - 2004/5/25

Y1 - 2004/5/25

N2 - Background: Syndromes of bilateral symmetric polymicrogyria include an autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP), in which the malformation is most severe rostrally. The authors describe a new syndrome they have termed "bilateral generalized polymicrogyria" (BGP), in which the malformation occurs in a generalized distribution but is often most severe in the perisylvian regions. Methods: Patients with bilateral polymicrogyria were identified from multiple medical centers worldwide. The diagnosis of BGP was based on findings from conventional spin echo MRI and, in one case, postmortem neuropathologic findings. Genetic analysis was performed for those patients from consanguineous pedigrees and those with multiple affected siblings to rule out linkage to the BFPP locus on chromosome 16q. Results: Twelve patients were identified with BGP. Clinical features included cognitive and motor delay as well as seizures. Some specific features characteristic of other known bilateral polymicrogyria syndromes, such as pseudobulbar palsy and dysconjugate gaze, were not commonly seen in these patients. Radiologically, polymicrogyria appeared wide-spread but was often most severe in the perisylvian regions. Pathologic examination in one case revealed a diffusely thin and excessively folded cerebral cortex lacking normal six-layered architecture. Seven patients subjected to genetic analysis did not demonstrate linkage to the BFPP locus. Conclusions: BGP is a distinct syndrome of cortical malformation. Several features allow BGP to be distinguished from other disorders on the growing list of bilateral symmetric polymicrogyria syndromes.

AB - Background: Syndromes of bilateral symmetric polymicrogyria include an autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP), in which the malformation is most severe rostrally. The authors describe a new syndrome they have termed "bilateral generalized polymicrogyria" (BGP), in which the malformation occurs in a generalized distribution but is often most severe in the perisylvian regions. Methods: Patients with bilateral polymicrogyria were identified from multiple medical centers worldwide. The diagnosis of BGP was based on findings from conventional spin echo MRI and, in one case, postmortem neuropathologic findings. Genetic analysis was performed for those patients from consanguineous pedigrees and those with multiple affected siblings to rule out linkage to the BFPP locus on chromosome 16q. Results: Twelve patients were identified with BGP. Clinical features included cognitive and motor delay as well as seizures. Some specific features characteristic of other known bilateral polymicrogyria syndromes, such as pseudobulbar palsy and dysconjugate gaze, were not commonly seen in these patients. Radiologically, polymicrogyria appeared wide-spread but was often most severe in the perisylvian regions. Pathologic examination in one case revealed a diffusely thin and excessively folded cerebral cortex lacking normal six-layered architecture. Seven patients subjected to genetic analysis did not demonstrate linkage to the BFPP locus. Conclusions: BGP is a distinct syndrome of cortical malformation. Several features allow BGP to be distinguished from other disorders on the growing list of bilateral symmetric polymicrogyria syndromes.

UR - http://www.scopus.com/inward/record.url?scp=2442674052&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=2442674052&partnerID=8YFLogxK

M3 - Article

C2 - 15159468

AN - SCOPUS:2442674052

VL - 62

SP - 1722

EP - 1728

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 10

ER -