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

Ikuo Goto, Takuro Kobayashi, Yasunobu Antoku, Shojo Tobimatsu, Yoshigoro Kuroiwa

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)103-112
Number of pages10
JournalJournal of the Neurological Sciences
Volume72
Issue number1
DOIs
Publication statusPublished - Jan 1986
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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