1 Department of Neurology, Fujian Medical University Union Hospital, Fuzhou 350001, China ; 2 Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China.
Ann Transl Med. 2015 Sep;3(15):221. doi: 10.3978/j.issn.2305-5839.2015.09.04.
Juvenile onset amyotrophic lateral sclerosis (ALS) is a very rare form of motor neuron disease, with the first symptoms of motor neuron degeneration manifested before 25 years of age. Juvenile ALS is more frequently familial in nature than the adult-onset forms. Mutations in the alsin (ALS2), senataxin (SETX), and Spatacsin (SPG11) have been associated with familial ALS with juvenile onset and slowly progression. Here we reported two apparently sporadic ALS with juvenile onset and aggressive progression caused by mutations in the SOD1 and FUS gene. We also reviewed juvenile-onset ALS in publications. Our findings, together with other researches, confirms that both SOD1 and FUS mutations can lead to juvenile-onset malignant form of ALS and should be screened in ALS patients with an earlier age of onset, aggressive progression, even if there is no apparent family history.
青少年起病肌萎缩侧索硬化症（ALS）是一种非常罕见的运动神经元疾病，其运动神经元退化的最初症状在 25 岁之前表现出来。青少年 ALS 比成人起病形式更常具有家族性。alsin（ALS2）、senataxin（SETX）和 Spatacsin（SPG11）的突变与具有青少年起病和缓慢进展的家族性 ALS 相关。在这里，我们报道了两例由 SOD1 和 FUS 基因突变引起的、明显散发的青少年起病和侵袭性进展的 ALS。我们还对文献中的青少年起病 ALS 进行了综述。我们的研究结果与其他研究一起证实，SOD1 和 FUS 突变均可导致青少年起病的恶性 ALS 形式，即使没有明显的家族史，也应在发病年龄较早、进展迅速的 ALS 患者中进行筛查。
