RT期刊文章SR电子T1共济失调与动眼神经的失用症2型摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP 1207 O首页P 1210做10.1212/01. wnl.0000208402.10512.4a VO 66 8 A1 c Criscuolo A1 l . Chessa A1的美国迪迈A1 F p·曼奇尼A1。发疯A1 g·s·格雷科A1 m . Piane A1 F。巴比里A1 g·F·德·米歇尔·班菲A1 s A1。A1 Pierelli A1 n Rizzuto F。m . Santorelli A1 l . Gallosti A1。Filla A1 c Casali年2006 UL http://n.neur首页ology.org/content/66/8/1207.abstract 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。 Results: All the patients had cerebellar features, including limb and truncal ataxia, and slurred speech. OMA was observed in two patients, extrapyramidal symptoms in two, and mental impairment in three. High serum AFP levels, motor and sensory axonal neuropathy, and marked cerebellar atrophy on MRI were detected in all the patients who underwent these examinations. Sural nerve biopsy revealed a severe depletion of large myelinated fibers in one patient, and both large and small myelinated fibers in another. 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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