Recessive ataxia with ocular apraxia -: Review of 22 Portuguese patients
Recessive ataxia with ocular apraxia -: Review of 22 Portuguese patients
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DOI：
10.1001/archneur.58.2.201
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发表时间：
2001-02-01
影响因子：
--
通讯作者：
Sequeiros, J
中科院分区：
文献类型：
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作者：
Barbot, C;Coutinho, P;Sequeiros, J
背景资料：隐性共济失调是一组异质性的神经退行性疾病，其特征在于小脑共济失调与许多不同的神经系统、眼科或全身体征相关。除了弗里德赖希共济失调、共济失调-毛细血管扩张症和相对较少的一组罕见疾病（其分子基础已经确定）外，它们通常难以用临床术语进行分类。目的：研究一组患有共济失调和眼用不能的葡萄牙患者的临床表现并确定诊断标准，一种常染色体隐性形式，没有共济失调-毛细血管扩张症的基本临床和实验室特征。我们回顾了22例患者在11个kinetics，确定通过系统的遗传性共济失调正在进行的调查在Portuguel.Results：发病年龄范围从1到15岁，平均4.7年。在最后一次检查时症状的持续时间从5年到58年不等。所有患者均表现为进行性小脑共济失调、特征性眼用不能和周围神经病变。相关神经系统体征包括肌张力障碍、脊柱侧凸和高弓足。结论：共济失调合并眼失用症可能比以前假设的更常见，临床上可以通过以下标准进行鉴定：（1）常染色体隐性遗传;（2）早发性;（3）常染色体隐性遗传;（4）常染色体隐性遗传;（5）常染色体隐性遗传;（6）常染色体隐性遗传（3）小脑性共济失调、眼用不能和早期无反射的组合，随后出现周围神经病变的全貌;（4）没有智力迟钝、毛细血管扩张和免疫缺陷;（5）尽管有严重的运动障碍，但有可能长期存活。
Background: The recessive ataxias are a heterogeneous group of neurodegenerative disorders characterized by cerebellar ataxia associated with a number of different neurologic, ophthalmologic, or general signs. They are often difficult to classify in clinical terms, except for Friedreich ataxia, ataxia-telangiectasia, and a relatively small group of rare conditions for which the molecular basis has already been defined.Objectives: To study the clinical presentation and to define diagnostic criteria in a group of Portuguese patients with ataxia and ocular apraxia, an autosomal recessive form without the essential clinical and laboratory features of ataxia-telangiectasia.Patients and Methods: We reviewed 22 patients in 11 kindreds, identified through a systematic survey of hereditary ataxias being conducted in Portugal.Results: Age at onset ranged from 1 to 15 years, with mean of 4.7 years. The duration of symptoms at the time of last examination varied from 5 to 58 years. All patients presented with progressive cerebellar ataxia, the characteristic ocular apraxia, and a peripheral neuropathy. Associated neurologic signs included dystonia, scoliosis, and pes cavus. Magnetic, resonance imaging was performed in 16 patients, all of whom showed cerebellar atrophy.Conclusions: Ataxia with ocular apraxia may be more frequent than postulated before, and may be identified clinically using the following criteria: (1) autosomal recessive transmission; (2) early onset (for most patients in early childhood); (3) combination of cerebellar ataxia, ocular apraxia, and early areflexia, with later appearance of the full picture of peripheral neuropathy; (4) absence of mental retardation, telangiectasia, and immunodeficiency; and (5) the possibility of a long survival, although with severe motor handicap.