A study of evoked potentials in the 18q-syndrome which includes the absence of the gene locus for myelin basic protein.
We report evoked potential findings in a patient with 18q-syndrome (18q22.3----qter). The deletion included the locus for myelin basic protein (MBP). Clinical manifestations were mild intellectual deficit, involuntary movements and ataxia. MRI of the brain showed diffusely abnormal white matter. Visual evoked responses were normal. Central conduction was prolonged on median somatosensory evoked potentials and no central response was seen with posterior tibial somatosensory potentials. Putative congenital deficiency of MBP does not necessarily cause abnormal visual evoked responses.
Rodichok
L
L
Department of Medicine, Pennsylvania State University, Milton S. Hershey Medical Center, Hershey.
Miller
G
G
D000328:Adult; D002540:Cerebral Cortex / Q000502:physiology; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D003711:Demyelinating Diseases / Q000235:genetics* / Q000503:physiopathology; D004569:Electroencephalography / Q000295:instrumentation*; D005073:Evoked Potentials, Somatosensory / Q000502:physiology; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D006801:Humans; D004676:Myelin Basic Protein / Q000235:genetics*; D012815:Signal Processing, Computer-Assisted / Q000295:instrumentation*
D004676:Myelin Basic Protein