Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy

Takuro Kobayashi, Shosaku Noda, Hirotoshi Umezaki, Ikuo Goto, Satoshi Suzuki, Tetsuo Kitaguchi, Yoshigoro Kuroiwa

研究成果: Contribution to journalArticle査読

12 被引用数 (Scopus)

抄録

A family with adrenoleukodystrophy and clinical manifestations of spinocerebellar degeneration was studied. Two adult male first cousins showed progressive limb and truncal ataxia, slurred speech and spasticity of the extremities. Brain CT scans demonstrated atrophy of the pons and cerebellum, in both cases. Very long chain fatty acids in plasma and erythrocyte membranes were elevated in the affected patients and intermediately increased in an aunt and the mother of one patient, thereby indicating homozygotes and carriers of adrenoleukodystrophy, respectively. This unusual type of adrenoleukodystrophy seems to be transmitted as an X-linked recessive trait.

本文言語英語
ページ(範囲)1438-1440
ページ数3
ジャーナルJournal of Neurology, Neurosurgery and Psychiatry
49
12
DOI
出版ステータス出版済み - 1986

All Science Journal Classification (ASJC) codes

  • Surgery
  • Clinical Neurology
  • Psychiatry and Mental health

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