J Med Genet 1999;36:140-143
( February )
Short report
A new X linked neurodegenerative syndrome with mental
retardation, blindness, convulsions, spasticity, mild hypomyelination,
and early death maps to the pericentromeric region
Ben C J Hamela, Pieter Wesselingb c, Willy O Renierd, Bellinda van den Helmc, Hans-Hilger Ropersa e, Hannie Kremera, Edwin C M Marimana
a Department of Human
Genetics, University Hospital, PO Box 9101, 6500 HB Nijmegen, The
Netherlands, b Department of Pathology,
University Hospital, Nijmegen, The Netherlands, c Department of Neurology, University Hospital,
Nijmegen, The Netherlands, d Department
of Child Neurology, University Hospital, Nijmegen, The Netherlands, e Max Planck Institute for
Molecular Genetics, Berlin, Germany
Correspondence to: Dr Hamel.
Received 6 February
1998;
Revised version accepted for publication 13 July
1998
We report on a family with an X linked neurodegenerative
disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild
hypomyelination. By linkage analysis, the underlying genetic defect
could be assigned to the pericentromeric region of the X chromosome
with a maximum lod score of 3.30 at 
=0.0 for the DXS1204 locus with
DXS337 and PGK1P1 as flanking markers.
Keywords:
XLMR;
hypomyelination;
early death;
pericentromeric region
© 1999 by J Med Genet
