Laboratory of Neurogenetics, Neuroscience Unit, Department of Neurology, Faculty of Medicine, University of Thessalia, Larissa, Greece.
Neurol Sci. 2010 Jun;31(3):393-7. doi: 10.1007/s10072-009-0201-0. Epub 2009 Dec 2.
Phenotype of patients with the aprataxin gene mutation varies and according to previous studies, screening of aprataxin gene could be useful, once frataxin gene mutation is excluded in patients with normal GAA expansion in frataxin gene. In the present study, we sought to determine possible causative mutations in aprataxin gene (all exons and flanking intronic sequences) in 14 Greek patients with sporadic cerebellar ataxia all but one without GAA expansion in frataxin gene (1 patient was heterozygous). No detectable point mutation or deletion was found in the aprataxin gene of all the patients. Our results do not confirm the previous studies. This difference may be attributed to the different populations studied and possible different genetic background. It is still questionable whether the screening for aprataxin mutation in Greek patients' Friedreich ataxia phenotype is of clinical importance; larger, multicenter studies are necessary to clarify this issue.
患者的表型与 aprataxin 基因突变各不相同，根据以往的研究，在排除铁蛋白基因中正常 GAA 扩展的患者中，aprataxin 基因突变的筛查可能是有用的。在本研究中，我们试图确定 14 名希腊散发性小脑共济失调患者（除 1 名患者为铁蛋白基因杂合 GAA 扩展外）aprataxin 基因（所有外显子和侧翼内含子序列）中可能的致病突变。所有患者的 aprataxin 基因均未发现可检测的点突变或缺失。我们的结果与以前的研究不一致。这种差异可能归因于不同的研究人群和可能不同的遗传背景。在希腊患者的弗里德里希共济失调表型中筛查 aprataxin 突变是否具有临床意义仍存在疑问；需要更大规模的多中心研究来阐明这一问题。
