A clinical and neurophysiological investigation of a Danish kindred with heterozygous familial hypobetalipoproteinemia.
A three-generation transmission of under five percentile values for serum low density lipoprotein and low density lipoprotein cholesterol typical of heterozygous familial hypobetalipoproteinemia was demonstrated in a Danish family. Slight clinical signs of CNS abnormality were found in 4 of the 8 subjects with heterozygous familial hypobetalipoproteinemia, but did not resemble the neurological findings in abetalipoproteinemia nor in the previously described patients with familial hypobetalipoproteinemia. There were no signs of myelin dysfunction in the central nervous system as judged from the normal latency of visual and somatosensory evoked potentials.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003718:Denmark; D005260:Female; D006579:Heterozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000175:diagnosis / Q000235:genetics*; D007009:Hypolipoproteinemias / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008055:Lipids / Q000097:blood; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010375:Pedigree
D008055:Lipids; D008074:Lipoproteins