Familial neuronal migration disorder: Subcortical laminar heterotopia in a mother and pachygyria in the son

American Journal of Medical Genetics

Volumn 75, Issue 5, 1998, Pages 481-484

  Toyama, Jun ^a,d   Kasuya, Hidetoshi ^b   Higuchi, Sari ^a   Kondo, Hiroshi ^a   Naganuma, Yoshihiro ^a   Uchiyama, Makoto ^c  

^a National Hospital Organization Niigata National Hospital   (Japan)

^b Saiseikai Kurihashi Hospital   (Japan)

^c NIIGATA UNIVERSITY   (Japan)

^d UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Agyria pachygyria; Dominant inheritance; LISX; Neuronal migration disorder; Subcortical laminar heterotopia; X linked trait

Indexed keywords

ADULT; AGYRIA; ARTICLE; BRAIN MALFORMATION; CASE REPORT; DOMINANT INHERITANCE; FEMALE; HETEROTOPIA; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PACHYGYRIA; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEIZURE; X CHROMOSOME LINKED DISORDER;

ADULT; CELL MOVEMENT; CEREBRAL CORTEX; CEREBRAL VENTRICLES; CHORISTOMA; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NEURONS; PEDIGREE; SEIZURES; X CHROMOSOME;

EID: 0032539662     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980217)75:5<481::AID-AJMG5>3.0.CO;2-Q     Document Type: Article

References (19)

1. Aicardi J (1991): The agyria-pachygyria complex: A spectrum of cortical malformations. Brain Dev 13:1-8.
2. Barkovich AJ, Chuang SH, Norman D (1987): MR of neuronal migration anomalies. Am J Neuroradiol 8:1009-1017.
3. Barkovich AJ, Jackson DE Jr, Boyer RS (1989): Band heterotopias: A newly recognized neuronal migration anomaly. Radiology 171:455-458.
4. Barkovich AJ, Koch TK, Carrol CL (1991): The spectrum of lissencephaly: Report of ten patients analyzed by magnetic resonance imaging. Ann Neurol 30:139-146.
5. Berry-Kravis E, Israel J (1994): X-linked pachygyria and agenesis of the corpus callosum: Evidence for an X chromosome lissencephaly locus. Ann Neurol 36:229-233.
6. des Portes V, Pinard JM, Smadja D, Motte J, Boespflüg-Tanguy O, Moutrad ML, Desguerre I, Billuart P, Carrie A, Bienvenu T, Vinet MC, Bachner L, Beldjord C, Dulac O, Kahn A, Ponsot G, Chelly J (1997): Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): Evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22. J Med Genet 34:177-183.
7. Dobyns WB, Elias ER, Newlin AC, Pagon RA, Ledbetter DH (1992): Causal heterogeneity in isolated lissencephaly. Neurology 42:1375-1388.
8. Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard JM, Radtke RA, Ross ME, Tampieri D, Walsh CA, Truwit CL (1996): X-linked malformations of neuronal migration. Neurology 47: 331-339.
9. Ferrie CD, Jackson GD, Giannakodimos S, Panayiotopoulos CP (1995): Posterior agyria-pachygyria with polymicrogyria: Evidence for an inherited neuronal migration disorder. Neurology 45:150-153.
10. Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH (1992): Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Hum Genet 50:182-189.
11. Livingston JH, Aicardi J (1990): Unusual MRI appearance of diffuse subcortical heterotopia or "double cortex" in two children. J Neurol Neurosurg Psychiatry 53:617-620.
12. Marchal G, Andermann F, Tampieri D, Robitaille Y, Melanson D, Sinclair B, Olivier A, Silver K, Langevin P (1989): Generalized cortical dysplasia manifested by diffusely thick cerebral cortex. Arch Neurol 46:430-434.
13. Palmini A, Andermann F, Aicardi J, Dulac O, Chaves F, Ponsot G, Pinard JM, Goutières F, Livingston J, Tampieri D, Andermann E, Robitaille Y (1991): Diffuse cortical dysplasia, or the 'double cortex' syndrome: The clinical and epileptic spectrum in 10 patients. Neurology 41:1656-1662.
14. Pavone L, Gullotta F, Incorpora G, Grasso S, Dobyns WB (1990): Isolated lissencephaly: Report of four patients from two unrelated families. J Child Neurol 5:52-59.
15. Pinard JM, Motte J, Chiron C, Brian R, Andermann E, Dulac O (1994): Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene. J Neurol Neurosurg Psychiatry 57:914-920.
16. Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King AP, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA (1997): Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Hum Mol Genet 6:555-562
17. Scheffer IE, Mitchell LA, Howell RA, Fitt G, Syngeniotis A, Saling M, Berkovic SF (1994): Familial band heterotopias: An X-linked dominant disorder with variable severity. Ann Neurol 36:511.
18. Tohyama J, Koeda T, Inagaki M, Ohno K (1991): A female patient with band heterotopia-New migration disorder [in Japanese]. No-To-Hattatsu (Tokyo) 23:102-104.
19. Zollino M, Mastroiaeovo P, Zampino G, Mariotti P, Neri G (1992): New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria. Am J Med Genet 43:452-457.