Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients
Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients
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DOI：
10.1016/j.jns.2008.12.004
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发表时间：
2009-03-15
影响因子：
4.4
通讯作者：
Koenig, M.
中科院分区：
文献类型：
--
作者：
Tazir, M.;Ali-Pacha, L.;Koenig, M.
共济失调伴眼运动性失用2型（AOA 2）是一种由senataxin基因（SETX）突变引起的常染色体隐性遗传性小脑性共济失调（ARCA），我们分析了19例SETX突变的AOA 2患者的表型谱，这似乎是阿尔及利亚继Freidreich共济失调和共济失调伴维生素E缺乏之后第三常见的ARCA。在AOA2患者中，所有家族的平均发病年龄在20岁。小脑共济失调是进行性的，缓慢导致残疾，几乎所有患者都存在轴突性多发性神经病。平均患病时间约为20年。眼运动性失用症（OMA）出现在32%的患者，而会聚性斜视出现在37%。因此，即使在没有OMA的情况下，当斜视与共济失调和多发性神经病相关时，也非常提示AOA2。小脑萎缩在年龄最大的患者中更严重：然而，它也可能是一种早期体征，因为它存在于年龄最小和症状少的患者中。最初的迹象是步态共济失调，但两名患者谁提出了头部震颤和书写痉挛，分别。血清甲胎蛋白，这是在所有测试的患者升高，是一个很好的标志，建议SETX基因的分子研究。(c)2008 Elsevier B.V.保留所有权利。
Ataxia with oculo-motor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia (ARCA) caused by mutations in the senataxin gene (SETX).We analysed the phenotypic spectrum of 19 AOA2 patients with mutations in SETX, which seems to be the third most frequent form of ARCA in Algeria after Freidreich ataxia and Ataxia with vitamin E deficiency. in AOA2 patients, the mean age at onset for all families was in the second decade. Cerebellar ataxia was progressive, slowly leading to disability which was aggravated by axonal polyneuropathy present in almost all the patients. Mean disease duration until wheelchair was around 20 years. Oculo-motor apraxia (OMA) was present in 32% of the patients while convergent strabismus was present in 37%. Strabismus is therefore also very suggestive of AOA2 when associated with ataxia and polyneuropathy even in the absence of OMA. Cerebellar atrophy was more severe in the eldest patients: however it may also be an early sign since it was present in the Youngest and paucisymptomatic patients. The initial sign was gait ataxia in all but two patients who presented with head tremor and writer cramp, respectively. Serum alpha-fetoprotein, which was elevated in all tested patients, was a good marker to suggest molecular Studies of the SETX gene. (c) 2008 Elsevier B.V. All rights reserved.