A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region.
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 theta=0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers.
Hamel
B C
BC
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Wesseling
P
P
Renier
W O
WO
van den Helm
B
B
Ropers
H H
HH
Kremer
H
H
Mariman
E C
EC
D001766:Blindness / Q000235:genetics*; D002503:Centromere / Q000235:genetics*; D002874:Chromosome Mapping; D003937:Diagnosis, Differential; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics*; D009186:Myelin Sheath / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000235:genetics*; D010375:Pedigree; D012640:Seizures / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*
D005819:Genetic Markers