PT -期刊文章盟c Criscuolo AU - l . Chessa AU -美国迪迈盟- p·曼奇尼AU - f·萨加盟- g·s·格雷科盟- m . Piane AU - f .巴比里盟- g·德·米歇尔·盟美国班菲AU - f . Pierelli AU - n .睡梦中盟- f . m . Santorelli AU - l . Gallosti AU - a . Filla盟- c Casali TI -共济失调与动眼神经的失用症2型援助- 10.1212/01. wnl.0000208402.10512.4a DP - 2006 4月25 TA -神经病学第六PG - 1207 - 1210 - 66 IP - 8 4099 - //www.ez-admanager.com/content/66/8/1207.short 4100 - http://n.neurolo首页gy.org/content/66/8/1207.full所以Neurology2006 4月25日;66 AB -背景:共济失调与动眼神经的失用症2型(AOA2)的特点是发病10岁和22岁之间,小脑萎缩,周围神经病变,眼球运动的失用症(OMA)和升高血清甲胎蛋白(AFP)的水平。隐性突变对于SETX AOA2患者均有描述。目的:描述AOA2的临床特征和识别对于SETX突变在10个病人从四个意大利家庭。方法:对患者进行临床检查,常规实验室检测,神经传导研究中,腓肠神经活检,和大脑核磁共振。都是对于SETX突变筛查。结果:所有患者小脑功能,包括肢体和躯干的运动失调,口齿不清。OMA在两个病人,在两个锥体外系症状,心理障碍三个。高血清AFP水平,运动和感觉轴突神经病变,标志着小脑萎缩在MRI在所有病人中发现这些考试。腓肠神经活检显示严重损耗大的有髓纤维在一个病人,大的和小的有髓纤维在另一个。 Postmortem findings are also reported in one of the patients. Four different homozygous SETX mutations were found (a large-scale deletion, a missense change, a single-base deletion, and a splice-site mutation). Conclusions: The clinical phenotype of oculomotor apraxia type 2 is fairly homogeneous, showing only subtle intrafamilial variability. OMA is an inconstant finding. The identification of new mutations expands the array of SETX variants, and the finding of a missense change outside the helicase domain suggests the existence of at least one more functional region in the N-terminus of senataxin.

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