A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

Authors
Hamel, BCJ Wesseling, P Renier, WO van den Helm, B Ropers, HH Kremer, H Mariman, ECM
Citation
Bcj. Hamel et al., A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region, J MED GENET, 36(2), 1999, pp. 140-143
Citations number
27
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
JOURNAL OF MEDICAL GENETICS
ISSN journal
00222593 → ACNP
Volume
36
Issue
2
Year of publication
1999
Pages
140 - 143
Database
ISI
SICI code
0022-2593(199902)36:2<140:ANXLNS>2.0.ZU;2-4
Abstract
We report on a family with an X linked neurodegenerative disorder consistin g of mental retardation, blindness, convulsions, spasticity, and early deat h. Neuropathological examination showed mild hypomyelination. By linkage an alysis, the underlying genetic defect could be assigned to the pericentrome ric region of the X chromosome with a maximum lod score of 3.30 at theta=0. 0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers.