Kobayashi T, Noda S, Umezaki H, Goto I, Suzuki S, Kitaguchi T, Kuroiwa Y
J Neurol Neurosurg Psychiatry. 1986 Dec;49(12):1438-40. doi: 10.1136/jnnp.49.12.1438.
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.
对一个患有肾上腺脑白质营养不良且伴有脊髓小脑变性临床表现的家族进行了研究。两名成年男性第一代堂兄弟表现出进行性肢体和躯干共济失调、言语不清以及四肢痉挛。脑部CT扫描显示，在这两个病例中脑桥和小脑均有萎缩。患病患者血浆和红细胞膜中的极长链脂肪酸升高，一名患者的姑姑和母亲的该脂肪酸水平中度升高，这分别表明她们是肾上腺脑白质营养不良的纯合子和携带者。这种不寻常类型的肾上腺脑白质营养不良似乎作为X连锁隐性性状进行遗传。
