Key result
Heterozygous familial hypobetalipoproteinemia was associated with slight clinical signs of CNS abnormality in 4 of 8 subjects, but no signs of myelin dysfunction.
Observational (n=8)
Heterozygous familial hypobetalipoproteinemia in this kindred was associated with slight CNS abnormalities but no evidence of myelin dysfunction.
Should not change practice in heterozygous familial hypobetalipoproteinemia; leaves open CNS effects pending larger confirmatory studies.
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.
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ANDERSEN et al. (1979) conducted an observational in Heterozygous familial hypobetalipoproteinemia (n=8). Heterozygous familial hypobetalipoproteinemia was evaluated on Clinical signs of CNS abnormality. Heterozygous familial hypobetalipoproteinemia was associated with slight clinical signs of CNS abnormality in 4 of 8 subjects, but no signs of myelin dysfunction.
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