Amyotrophic lateral sclerosis (ALS) is a multifactorial disease characterized by the interplay of genetic and environmental factors. In the majority of cases, ALS is sporadic, whereas familial forms occur in less than 10% of patients. Herein, we present the results of molecular analyses performed in a large cohort of Italian ALS patients, focusing on novel and already described variations in ALS-linked genes. Our analysis revealed that more than 10% of tested patients carried a mutation in one of the major ALS genes, with C9orf72 hexanucleotide expansion being the most common mutation. In addition, our study confirmed a significant association between ALS patients carrying the ATNX-1 intermediate repeat and the pathological C9orf72 expansion, supporting the involvement of this risk factor in neuronal degeneration. Overall, our study broadens the known mutational spectrum in ALS and provides new insights for a more accurate view of the genetic pattern of the disease.

中文翻译：

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意大利南部 ALS 患者的基因调查：为期两年的分析

肌萎缩侧索硬化（ALS）是一种多因素疾病，其特征是遗传和环境因素相互作用。在大多数情况下，ALS 是散发性的，而家族性形式发生在不到 10% 的患者中。在此，我们展示了在大量意大利 ALS 患者中进行的分子分析结果，重点关注 ALS 相关基因中新的和已经描述的变异。我们的分析显示，超过 10% 的受试患者在主要 ALS 基因之一中携带突变，其中 C9orf72 六核苷酸扩增是最常见的突变。此外，我们的研究证实了携带 ATNX-1 中间重复序列的 ALS 患者与病理性 C9orf72 扩增之间存在显着关联，支持该风险因素参与神经元变性。总体，