Adrenoleukodystrophy and variants. Clinical, neurophysiological and biochemical studies in patients and family members.

Abstract

Clinical, neurophysiological and biochemical studies were performed in patients with various forms of adrenoleukodystrophy (ALD) and their family members. The patients showed an abnormality in saturated very long chain fatty acids and in the somatosensory and brain stem auditory or visual evoked potentials. Female presumptive carriers without abnormal neurological manifestations also showed abnormality in the somatosensory or brain stem auditory evoked potentials and in saturated very long chain fatty acids. One ALD patient and his mother, a female carrier, had the decreased beta-galactosidase activity. The increase in saturated very long chain fatty acids was found, not only in sphingomyelin, but also in phosphatidylcholine and phosphatidylserine. Our results suggest that a generalized abnormal metabolism of VLFA and an abnormality in the central nervous system exist in our patients and female carriers.

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@article{Goto1986AdrenoleukodystrophyAV, title={Adrenoleukodystrophy and variants. Clinical, neurophysiological and biochemical studies in patients and family members.}, author={Itaru Goto and Takayoshi Kobayashi and Yasuaki Antoku and Shozo Tobimatsu and Yuichi Kuroiwa}, journal={Journal of the neurological sciences}, year={1986}, volume={72 1}, pages={103-12} }