PDF(Pubmed)
Abstract：
Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the MRE11 gene (meiotic recombination 11 gene), which causes DNA-double strand break repair deficits. Clinical features of patients with ATLD1 resemble those of ataxia telangiectasia (AT), with slower progression and milder presentation. Main symptoms include progressive cerebellar ataxia, oculomotor apraxia, cellular hypersensitivity to ionizing radiations. Facial dyskinesia, dystonia, dysarthria have also been reported. Here we present a 45-year old woman with cervical and facial dystonia, dysarthria and ataxia, who turned out to be the first case of ATLD without oculomotor apraxia, and with dystonia as a main manifestation of the disease. She had presented those non-specific symptoms for years, before whole exome sequencing confirmed the diagnosis.
摘要：
共济失调-毛细血管扩张样障碍1（ATLD1）是一种罕见的神经退行性疾病，与早发性共济失调和动眼失用症有关。ATLD1的遗传测定是MRE11基因（减数分裂重组11基因）的突变，导致DNA双链断裂修复缺陷。ATLD1患者的临床特征与共济失调毛细血管扩张症（AT）相似，进展缓慢，表现温和。主要症状包括进行性小脑共济失调，动眼失用症,细胞对电离辐射过敏。面部运动障碍,肌张力障碍,构音障碍也有报道。在这里，我们介绍了一位45岁的女性，患有颈部和面部肌张力障碍，构音障碍和共济失调,结果证明是第一例无动眼失用症的ATLD，以肌张力障碍为主要表现。她多年来一直表现出这些非特异性症状，在整个外显子组测序确认诊断之前。
