Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Neurobiol Aging. 2013 Jun;34(6):1713.e5-6. doi: 10.1016/j.neurobiolaging.2012.12.024. Epub 2013 Jan 26.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease primarily involving the corticospinal tract, brainstem, and anterior cells of the spinal cord. Mutations in the profilin 1 gene (PFN1) were recently described in ALS families. To investigate the spectrum and frequency of PFN1 mutations further, we sequenced all 3 exons of the PFN1 gene in 20 familial ALS index cases, 324 sporadic ALS patients, and 355 healthy control subjects. No nonsynonymous coding variants were identified. Our findings suggest that mutations in the PFN1 gene are not a common cause of ALS in the Chinese population.
肌萎缩侧索硬化症（ALS）是一种进行性神经退行性疾病，主要累及皮质脊髓束、脑干和脊髓前角细胞。最近在 ALS 家族中描述了丝状蛋白 1 基因（PFN1）的突变。为了进一步研究 PFN1 突变的谱和频率，我们对 20 个家族性 ALS 索引病例、324 个散发性 ALS 患者和 355 个健康对照者的 PFN1 基因的所有 3 个外显子进行了测序。未发现非同义编码变异。我们的研究结果表明，PFN1 基因突变不是中国人 ALS 的常见原因。
