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

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

研究成果: ジャーナルへの寄稿記事

11 引用 (Scopus)

抄録

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.

元の言語英語
ページ(範囲)103-112
ページ数10
ジャーナルJournal of the Neurological Sciences
72
発行部数1
DOI
出版物ステータス出版済み - 1 1986
外部発表Yes

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Adrenoleukodystrophy
Fatty Acids
Brain Stem Auditory Evoked Potentials
Sphingomyelins
Visual Evoked Potentials
Phosphatidylserines
beta-Galactosidase
Neurologic Manifestations
Phosphatidylcholines
Central Nervous System
Mothers

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

これを引用

Adrenoleukodystrophy and variants. Clinical, neurophysiological and biochemical studies in patients and family members. / Goto, Ikuo; Kobayashi, Takuro; Antoku, Yasunobu; Tobimatsu, Shojo; Kuroiwa, Yoshigoro.

:: Journal of the Neurological Sciences, 巻 72, 番号 1, 01.1986, p. 103-112.

研究成果: ジャーナルへの寄稿記事

Goto, Ikuo ; Kobayashi, Takuro ; Antoku, Yasunobu ; Tobimatsu, Shojo ; Kuroiwa, Yoshigoro. / Adrenoleukodystrophy and variants. Clinical, neurophysiological and biochemical studies in patients and family members. :: Journal of the Neurological Sciences. 1986 ; 巻 72, 番号 1. pp. 103-112.
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