PT -期刊文章盟h . Shimazaki AU - y Takiyama AU - k . Sakoe盟Ikeguchi k . AU - k . Niijima盟- j . Kaneko盟- m . Namekawa AU - t Ogawa AU - h .日期非盟- s信盟- i Nakano盟- m . Nishizawa TI -早发性共济失调与眼部运动失用症和低白蛋白血症援助- 10.1212 / WNL.59.4.590 DP - 2002年8月27日TA -神经病学第六PG - 590 - 595 - 59 IP - 4 4099 - //www.ez-admanager.com/content/59/4/590.short 4首页100 - //www.ez-admanager.com/content/59/4/590.full所以Neurology2002 8月27日;59 AB -背景:早发性共济失调和低白蛋白血症是视为一种变体在日本Friedreich共济失调。早发性共济失调与低白蛋白血症和共济失调与眼部电动机失用症被认为是相同的临床实体,因为最近的aprataxin的常见突变基因的识别。一个新的临床实体命名为早发性共济失调与眼部运动失用症和低白蛋白血症(每节)提出了解释这两种疾病。目的:揭示每节的临床特征和识别aprataxin基因的突变与每节六名病人在四名日本家庭。方法:临床特征、实验室结果、腓肠神经活检结果,和大脑MRI或CT发现对这些病人进行评估,和分子分析涉及aprataxin基因的测序直接或subcloning方法的使用。结果:小脑性共济失调和周围神经病变在所有六个病人。眼电动机失用症在五个病人;两个病人有明显的推力。舞蹈病样的肢体动作和心理恶化在五个病人被观察到。 Although foot deformity was noted in five patients, kyphoscoliosis was noted only in one patient. In all patients, hypoalbuminemia and hypercholesterolemia were evident, and brain MRI or CT showed marked cerebellar atrophy. Nerve biopsy revealed depletion of large myelinated fibers in three of the five patients examined. Molecular analysis of the aprataxin gene revealed an insertion mutation (insT at nt167) and two missense mutations (A-to-G transition at nt80 and C-to-T transition at nt95, the former being novel). Conclusion: We found clinical heterogeneity in the patients with EAOH in this study. With the disease course, the choreiform movements tended to reduce in degree, and hypoalbuminemia became evident. Molecular analysis identified one insertion and two missense mutations including a novel missense one, which was located at a highly conserved amino acid residue in the aprataxin gene product.

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