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*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
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