| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
*Deceased.
From the Departments of Neurology (Drs. Dobyns, Czapansky-Bielman, Ross, and Truwit), Pediatrics (Dr. Dobyns), Laboratory Medicine and Pathology (Dr. Hirsch) and Radiology (Dr. Truwit), University of Minnesota Medical School, Minneapolis, MN; the Montreal Neurological Institute and Departments of Neurology and Neurosurgery (Drs. E. Andermann, F. Andermann, Dubeau, and Tampieri), Human Genetics (Dr. E. Andermann) and Radiology (Dr. Tampieri), McGill University, Montreal, Quebec, Canada; Department de Neuropediatrie (Drs. Dulac and Pinard), Hopital Saint Vincent de Paul, Paris, France; Division of Child Neurology and Psychiatry (Dr. Guerrini), Stella Maris Foundation and University of Pisa, Pisa, Italy; the National Center for Human Genome Research (Dr. Ledbetter), National Institutes of Health, Bethesda, MD; the Department of Neurology (Drs. Lee and Radke), Duke University, Durham, NC; Unite de Neuropediatrie (Dr. Motte), American Memorial Hospital, Reims, France; and the Department of Neurology (Dr. Walsh), Beth Israel Hospital and Harvard University, Boston, MA.
Received July 8, 1995. Accepted in final form November 13, 1995.
Address correspondence and reprint requests to Dr Dobyns, Department of Neurology, Box 486 UMHC, 420 Delaware Street SE, Minneapolis, MN 55455.
Malformations of neuronal migration such as lissencephaly (agyria-pachygyria spectrum) are wellknown causes of mental retardation and epilepsy that are often genetic. For example, isolated lissencephaly sequence and Miller-Dieker syndrome are caused by deletions involving a lissencephaly gene in chromosome 17p13.3, while many other malformation syndromes have autosomal recessive inheritance. In this paper, we review evidence supporting the existence of two distinct X-linked malformations of neuronal migration. X-linked lissencephaly and subcortical band heterotopia (XLIS) presents with sporadic or familial mental retardation and epilepsy. The brain malformation varies from classical lissencephaly, which is observed in males, to subcortical band heterotopia, which is observed primarily in females. The XLIS gene is located in chromosome Xq22.3 based on the breakpoint of an X-autosomal translocation. Bilateral periventricular nodular heterotopia (BPNH) usually presents with sporadic or familial epilepsy with normal intelligence, primarily in females, although we have evaluated two boys with BPNH and severe mental retardation. The gene for BPNH has been mapped to chromosome Xq28 based on linkage studies in multiplex families and observation of a subtle structural abnormality in one of the boys with BPNH and severe mental retardation.
NEUROLOGY 1996;47: 331-339
This article has been cited by other articles:
|
|
 |
|
  R. J. Ferland, L. F. Batiz, J. Neal, G. Lian, E. Bundock, J. Lu, Y.-C. Hsiao, R. Diamond, D. Mei, A. H. Banham, et al. Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia Hum. Mol. Genet., February 1, 2009; 18(3): 497 - 516. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Friocourt, S. Kanatani, H. Tabata, M. Yozu, T. Takahashi, M. Antypa, O. Raguenes, J. Chelly, C. Ferec, K. Nakajima, et al. Cell-Autonomous Roles of ARX in Cell Proliferation and Neuronal Migration during Corticogenesis J. Neurosci., May 28, 2008; 28(22): 5794 - 5805. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Tian, X.-P. Kong, X. H. Jaglin, J. Chelly, D. Keays, and N. J. Cowan A Pachygyria-causing {alpha}-Tubulin Mutation Results in Inefficient Cycling with CCT and a Deficient Interaction with TBCB Mol. Biol. Cell, March 1, 2008; 19(3): 1152 - 1161. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Friocourt, J. S. Liu, M. Antypa, S. Rakic, C. A. Walsh, and J. G. Parnavelas Both Doublecortin and Doublecortin-Like Kinase Play a Role in Cortical Interneuron Migration J. Neurosci., April 4, 2007; 27(14): 3875 - 3883. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Parrini, A. Ramazzotti, W. B. Dobyns, D. Mei, F. Moro, P. Veggiotti, C. Marini, E. H. Brilstra, B. D. Bernardina, L. Goodwin, et al. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations Brain, July 1, 2006; 129(7): 1892 - 1906. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Wieck, R. J. Leventer, W. M. Squier, A. Jansen, E. Andermann, F. Dubeau, A. Ramazzotti, R. Guerrini, and W. B. Dobyns Periventricular nodular heterotopia with overlying polymicrogyria Brain, December 1, 2005; 128(12): 2811 - 2821. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A Jansen and E Andermann Genetics of the polymicrogyria syndromes J. Med. Genet., May 1, 2005; 42(5): 369 - 378. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Tassi, N. Colombo, M. Cossu, R. Mai, S. Francione, G. Lo Russo, C. Galli, M. Bramerio, G. Battaglia, R. Garbelli, et al. Electroclinical, MRI and neuropathological study of 10 patients with nodular heterotopia, with surgical outcomes Brain, February 1, 2005; 128(2): 321 - 337. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. M. Mooney, J. A. Siegenthaler, and M. W. Miller Ethanol Induces Heterotopias in Organotypic Cultures of Rat Cerebral Cortex Cereb Cortex, October 1, 2004; 14(10): 1071 - 1080. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Guerrini, D. Mei, S. Sisodiya, F. Sicca, B. Harding, Y. Takahashi, T. Dorn, A. Yoshida, J. Campistol, G. Kramer, et al. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia Neurology, July 13, 2004; 63(1): 51 - 56. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Tanaka, F. F. Serneo, C. Higgins, M. J. Gambello, A. Wynshaw-Boris, and J. G. Gleeson Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration J. Cell Biol., June 7, 2004; 165(5): 709 - 721. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Sicca, A. Kelemen, P. Genton, S. Das, D. Mei, F. Moro, W.B. Dobyns, and R. Guerrini Mosaic mutations of the LIS1 gene cause subcortical band heterotopia Neurology, October 28, 2003; 61(8): 1042 - 1046. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Mai, L. Tassi, M. Cossu, S. Francione, G. Lo Russo, R. Garbelli, A. Ferrario, C. Galli, F. Taroni, A. Citterio, et al. A neuropathological, stereo-EEG, and MRI study of subcortical band heterotopia Neurology, June 10, 2003; 60(11): 1834 - 1838. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
V. L. Sheen, M. Topcu, S. Berkovic, D. Yalnizoglu, I. Blatt, A. Bodell, R. S. Hill, V. S. Ganesh, T. J. Cherry, Y. Y. Shugart, et al. Autosomal recessive form of periventricular heterotopia Neurology, April 8, 2003; 60(7): 1108 - 1112. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Kato and W. B. Dobyns Lissencephaly and the molecular basis of neuronal migration Hum. Mol. Genet., April 2, 2003; 12(90001): R89 - 96. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. D. D'Agostino, A. Bernasconi, S. Das, A. Bastos, R. M. Valerio, A. Palmini, J. Costa da Costa, I. E. Scheffer, S. Berkovic, R. Guerrini, et al. Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females Brain, November 1, 2002; 125(11): 2507 - 2522. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Schmitz, N. Grolms, P. R. Hof, R. Boehringer, J. Glaser, and H. Korr Altered Spatial Arrangement of Layer V Pyramidal Cells in the Mouse Brain following Prenatal Low-dose X-Irradiation. A Stereological Study using a Novel Three-dimensional Analysis Method to Estimate the Nearest Neighbor Distance Distributions of Cells in Thick Sections Cereb Cortex, September 1, 2002; 12(9): 954 - 960. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. A. Montenegro, M. M. Guerreiro, I. Lopes-Cendes, C. A. M. Guerreiro, and F. Cendes Interrelationship of Genetics and Prenatal Injury in the Genesis of Malformations of Cortical Development Arch Neurol, July 1, 2002; 59(7): 1147 - 1153. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Spalice, G. Taddeucci, F. M. Perla, M. P. Pascali, and P. Iannetti Periventricular Nodular Heterotopia: Report of a Pediatric Series J Child Neurol, April 1, 2002; 17(4): 300 - 304. [Abstract] [PDF]
|
|
|
|
|
|
F. Moro, R. Carrozzo, P. Veggiotti, G. Tortorella, D. Toniolo, A. Volzone, and R. Guerrini Familial periventricular heterotopia: Missense and distal truncating mutations of the FLN1 gene Neurology, March 26, 2002; 58(6): 916 - 921. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. J. Willmore and Y. Ueda Genetics of Epilepsy J Child Neurol, January 1, 2002; 17(1_suppl): S18 - S27. [Abstract] [PDF]
|
|
|
|
|
|
A. J. Barkovich, R. I. Kuzniecky, G. D. Jackson, R. Guerrini, and W. B. Dobyns Classification system for malformations of cortical development: Update 2001 Neurology, December 26, 2001; 57(12): 2168 - 2178. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Meyer Book Review: Human Neocortical Development: The Importance of Embryonic and Early Fetal Events Neuroscientist, August 1, 2001; 7(4): 303 - 314. [Abstract] [PDF]
|
|
|
|
 |
|
 A. Wynshaw-Boris and M. J. Gambello LIS1 and dynein motor function in neuronal migration and development Genes & Dev., March 15, 2001; 15(6): 639 - 651. [Full Text]
|
|
|
|
|
|
A. James Barkovich and R. I. Kuzniecky Gray matter heterotopia Neurology, December 12, 2000; 55(11): 1603 - 1608. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. J. Barkovich Morphologic Characteristics of Subcortical Heterotopia: MR Imaging Study AJNR Am. J. Neuroradiol., February 1, 2000; 21(2): 290 - 295. [Abstract] [Full Text]
|
|
|
|
|
|
S. Whiting and M. Duchowny Topical Review: Clinical Spectrum of Cortical Dysplasia in Childhood: Diagnosis and Treatment Issues J Child Neurol, December 1, 1999; 14(12): 759 - 771. [Abstract] [PDF]
|
|
|
|
 |
|
 M. Mizuguchi, J. Qin, M. Yamada, K. Ikeda, and S. Takashima High Expression of Doublecortin and KIAA0369 Protein in Fetal Brain Suggests Their Specific Role in Neuronal Migration Am. J. Pathol., November 1, 1999; 155(5): 1713 - 1721. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. T. Pilz, J. Kuc, N. Matsumoto, J. Bodurtha, B. Bernadi, C. A. Tassinari, W. B. Dobyns, and D. H. Ledbetter Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1 Hum. Mol. Genet., September 1, 1999; 8(9): 1757 - 1760. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. J. Leventer, E. M. Phelan, L. T. Coleman, M. J. Kean, G. D. Jackson, and A. S. Harvey Clinical and imaging features of cortical malformations in childhood Neurology, September 1, 1999; 53(4): 715 - 715. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. B. Dobyns, C. L. Truwit, M. E. Ross, N. Matsumoto, D. T. Pilz, D. H. Ledbetter, J. G. Gleeson, C. A. Walsh, and A. J. Barkovich Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly Neurology, July 1, 1999; 53(2): 270 - 270. [Abstract] [Full Text]
|
|
|
|
|
|
A. Federico, P. Tomasetti, M. Zollino, M. Diomedi, M. T. Dotti, N. De Stefano, G. F. Gualdi, G. Neri, and G. L. Gigli Association of trisomy 9p and band heterotopia Neurology, July 1, 1999; 53(2): 430 - 430. [Abstract] [Full Text]
|
|
|
|
|
|
D. G. Vossler, Jung Kyo Lee, and Tae Sung Ko Treatment of Seizures in Subcortical Laminar Heterotopia With Corpus Callosotomy and Lamotrigine J Child Neurol, May 1, 1999; 14(5): 282 - 288. [Abstract] [PDF]
|
|
|
|
 |
|
 D. Levine and P. D. Barnes Cortical Maturation in Normal and Abnormal Fetuses as Assessed with Prenatal MR Imaging Radiology, March 1, 1999; 210(3): 751 - 758. [Abstract] [Full Text]
|
|
|
|
|
|
A. J. Hannan, S. Servotte, A. Katsnelson, S. Sisodiya, C. Blakemore, M. Squier, and Z. Molnar Characterization of nodular neuronal heterotopia in children Brain, February 1, 1999; 122(2): 219 - 238. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. M. Sisodiya, S. L. Free, M. Thom, A. E. Everitt, D. R. Fish, and S. D. Shorvon Evidence for nodular epileptogenicity and gender differences in periventricular nodular heterotopia Neurology, January 1, 1999; 52(2): 336 - 336. [Abstract] [Full Text]
|
|
|
|
|
|
K. S. Lee, J. L. Collins, M. J. Anzivino, E. A. Frankel, and F. Schottler Heterotopic Neurogenesis in a Rat with Cortical Heterotopia J. Neurosci., November 15, 1998; 18(22): 9365 - 9375. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
