Subcortical band heterotopia (SBH) is a rare neuronal migration disorder, characterized by bilateral bands of neurons abnormally located in the cerebral white matter. It occurs mostly in females, 80% of whom harbor mutations in the DCX (Xg22.3-q23) gene. / To determine whether males and females with SBH have a similar clinical spectrum and genetic basis, we analyzed and compared the clinical, imaging, and molecular features in 30 males and 60 previously reported females with SBH. / The range of clinical phenotypes in males with SBH overlapped that in females. However, MRI studies revealed that some SBH subtypes such as incomplete posterior SBH, diffuse SBH with posterior predominance and pachygyria-SBH were more frequently or exclusively observed in males. Conversely, diffuse SBH and diffuse SBH with anterior predominance were more frequent in females. The preponderance in males of either the mildest or the most severe SBH subtypes correlated with the overrepresentation of normal/borderline intelligence and severe mental retardation respectively. Conversely, females who had SBH of intermediate severity exhibited mostly mild or moderate mental retardation. Mutations in DCX were detected in 33% of males; 8% had mutations of the LIS1 (17p13.3) gene and 4% a partial trisomy of chromosome 9p. / These studies demonstrate that SBH in males is a clinically and genetically heterogeneous, mostly sporadic syndrome, and suggest other genetic mechanisms such as mutations in the non-coding regions of the DCX or LIS1 genes; functional, somatic or germline mosaicism; and mutations of other genes.
| Identifer | oai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:QMM.82213 |
| Date | January 2004 |
| Creators | D'Agostino, Maria Daniela |
| Publisher | McGill University |
| Source Sets | Library and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada |
| Language | English |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Format | application/pdf |
| Coverage | Master of Science (Division of Neuroscience.) |
| Rights | All items in eScholarship@McGill are protected by copyright with all rights reserved unless otherwise indicated. |
| Relation | alephsysno: 002199541, proquestno: AAIMR12424, Theses scanned by UMI/ProQuest. |
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