X-linked malformations of neuronal migration

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

[1]  I. Scheffer,et al.  Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development , 1996, Neuron.

[2]  F Andermann,et al.  Periventricular and subcortical nodular heterotopia. A study of 33 patients. , 1995, Brain : a journal of neurology.

[3]  S. Mcconnell,et al.  Tangential migration of neurons in the developing cerebral cortex. , 1995, Development.

[4]  B. Bernardi,et al.  Band brain heterotopia. Case report and literature review. , 1995, Neuropediatrics.

[5]  John R. Hodges,et al.  Progressive prosopagnosia associated with selective right temporal lobe atrophy. A new syndrome? , 1995, Brain : a journal of neurology.

[6]  E. Mercuri,et al.  Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status. , 1995, Neuropediatrics.

[7]  M. Norman,et al.  Congenital Malformations of the Brain: Pathologic, Embryologic, Clinical, Radiologic and Genetic Aspects , 1995 .

[8]  R. Stevenson,et al.  Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho Rac guanine nucleotide exchange factor , 1994, Cell.

[9]  C. Vedeler,et al.  Receptors for gammaglobulin in the central and peripheral nervous system. , 1994, Journal of neurology, neurosurgery, and psychiatry.

[10]  A J Barkovich,et al.  Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters , 1994, Annals of neurology.

[11]  S. Shorvon,et al.  Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy. , 1994, Journal of Neurology Neurosurgery & Psychiatry.

[12]  E. Andermann,et al.  Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene. , 1994, Journal of neurology, neurosurgery, and psychiatry.

[13]  E. Berry-Kravis,et al.  X‐linked pachygyria and agenesis of the corpus callosum: Evidence for an X chromosome lissencephaly locus , 1994, Annals of neurology.

[14]  E. Benarroch,et al.  Neuropeptides in the sympathetic system: Presence, plasticity, modulation, and implications , 1994, Annals of neurology.

[15]  H. Zoghbi,et al.  Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. , 1994, American journal of medical genetics.

[16]  P. Huttenlocher,et al.  Periventricular heterotopia and epilepsy , 1994, Neurology.

[17]  D B Calne,et al.  Is idiopathic parkinsonism the consequence of an event or a process? , 1994, Neurology.

[18]  D. Ledbetter,et al.  Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. , 1993, JAMA.

[19]  Takashi Kato,et al.  Magnetic resonance imaging and positron emission tomography of band heterotopia , 1993, Brain and Development.

[20]  G. Ramsby,et al.  Familial band heterotopias simulating tuberous sclerosis , 1993, Neurology.

[21]  U. Raucci,et al.  Neuronal migrational disorders: diffuse cortical dysplasia or the “double cortex” syndrome , 1993, Acta paediatrica.

[22]  D. Schlessinger,et al.  Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes. , 1993, Genomics.

[23]  K. Kamuro,et al.  Familial periventricular nodular heterotopia , 1993, Brain and Development.

[24]  F. Andermann,et al.  STAGES AND PATTERNS OF CENTRIFUGAL ARREST OF DIFFUSE NEURONAL MIGRATION DISORDERS , 1993, Developmental medicine and child neurology.

[25]  R. Hashimoto,et al.  The ‘double cortex’ syndrome on MRI , 1993, Brain and Development.

[26]  J. Slater,et al.  Corpus Callosotomy for Seizures Associated with Band Heterotopia , 1993, Epilepsia.

[27]  R. Penn,et al.  Neurosurgical horizons in Parkinson's disease , 1993, Neurology.

[28]  B. Rogers,et al.  HYPOXEMIA DURING ORAL FEEDING OF CHILDREN WITH SEVERE CEREBRAL PALSY , 1993, Developmental medicine and child neurology.

[29]  P. Goodfellow,et al.  Isolation of DNA markers from a region between incontinentia pigmenti 1 (IP1) X-chromosomal translocation breakpoints by a comparative PCR analysis of a radiation hybrid subclone mapping panel. , 1992, Genomics.

[30]  J. Gécz,et al.  Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient. , 1992, Genomics.

[31]  D. Goudie,et al.  The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13). , 1992, Genomics.

[32]  R. Nussbaum,et al.  The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase , 1992, Nature.

[33]  D. Ledbetter,et al.  Causal heterogeneity in isolated lissencephaly , 1992, Neurology.

[34]  G. Neri,et al.  New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria. , 1992, American journal of medical genetics.

[35]  A J Barkovich,et al.  Gray matter heterotopias: MR characteristics and correlation with developmental and neurologic manifestations. , 1992, Radiology.

[36]  M. Schmidt,et al.  Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases. , 1992, American journal of medical genetics.

[37]  Lippincott Williams Wilkins,et al.  Assessment: Magnetoencephalography (MEG) , 1992 .

[38]  F. Andermann,et al.  Diffuse cortical dysplasia, or the 'double cortex' syndrome , 1991, Neurology.

[39]  P. Papenhausen,et al.  Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. , 1991, American journal of human genetics.

[40]  A. Barkovich,et al.  The spectrum of lissencephaly: Report of ten patients analyzed by magnetic resonance imaging , 1991, Annals of neurology.

[41]  A. Bozzao,et al.  MR imaging of incomplete band heterotopia. , 1991, AJNR. American journal of neuroradiology.

[42]  P. Huttenlocher,et al.  Cellular Neuropathology of Tuberous Sclerosis a , 1991, Annals of the New York Academy of Sciences.

[43]  MANUEL R. GOMEZ,et al.  Phenotypes of the Tuberous Sclerosis Complex with a Revision of Diagnostic Criteria , 1991, Annals of the New York Academy of Sciences.

[44]  J. Kurtzke,et al.  On the production of neurologists in the United States , 1991, Neurology.

[45]  F. Cremers,et al.  Cloning of a gene that is rearranged in patients with choroideraemia , 1990, Nature.

[46]  C. Anderson.  Sex, racism and videotape , 1990, Nature.

[47]  W. Dobyns,et al.  Isolated Lissencephaly: Report of Four Patients From Two Unrelated Families , 1990, Journal of child neurology.

[48]  P. Harper,et al.  Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm. , 1989, Journal of medical genetics.

[49]  A. Barkovich,et al.  Band heterotopias: a newly recognized neuronal migration anomaly. , 1989, Radiology.

[50]  E. Zackai,et al.  Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. , 1989, American journal of medical genetics.

[51]  F Andermann,et al.  Generalized cortical dysplasia manifested by diffusely thick cerebral cortex. , 1989, Archives of Neurology.

[52]  R. Quencer,et al.  Association of heterotopic gray matter with seizures: MR imaging. Work in progress. , 1988, Radiology.

[53]  J. Rösch,et al.  Selective transcervical fallopian tube catheterization: technique update. , 1988, Radiology.

[54]  M. Koenig,et al.  Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals , 1987, Cell.

[55]  J. Groopman.  Hematopoietic growth factors: From methylcellulose to man , 1987, Cell.

[56]  P. Barth,et al.  Disorders of Neuronal Migration , 1987, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[57]  J. Moossy.  Histology and Histopathology of the Nervous System , 1982 .

[58]  H. Jacob.  Faktoren bei der Entstehung der normalen und der entwicklungsgestörten Hirnrinde , 1936 .

[59]  R. Guerrini.  Dysplasias of cerebral cortex and epilepsy , 1996 .

[60]  S. Packman,et al.  Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase , 1993, Nature Genetics.

[61]  D. Deregt,et al.  ELISA reliable for detection of antibodies to BHV1. , 1993, The Canadian veterinary journal = La revue veterinaire canadienne.

[62]  S. Felber,et al.  Laminar heterotopic grey matter (double cortex) in a patient with late onset Lennox-Gastaut syndrome. , 1992, Wiener klinische Wochenschrift.

[63]  S. Ricci,et al.  Double cortex. A neuronal migration anomaly as a possible cause of Lennox-Gastaut syndrome. , 1992, Archives of neurology.

[64]  M. Ludman,et al.  GMS syndrome: a new dominant condition with goniodysgenesis, mental retardation, and short stature. , 1992, American journal of medical genetics.

[65]  R. Friede.  Developmental Neuropathology , 1989, Springer Berlin Heidelberg.

[66]  K. Kidd,et al.  The human gene mapping workshops in transition. , 1989, Cytogenetics and cell genetics.