Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands.
Neurobiol Aging. 2012 Sep;33(9):2233.e7-2233.e8. doi: 10.1016/j.neurobiolaging.2012.02.032. Epub 2012 Jun 5.
Recently it was discovered that mutations in the UBQLN2 gene were a cause of an X-linked dominant type of familial amyotrophic lateral sclerosis (ALS). We investigated the frequency of mutations in this gene in a cohort of 92 families with ALS in the Netherlands. Eight families were excluded because of male-to-male transmission. In the remaining 84 familial ALS cases no mutations were discovered in UBQLN2. Hence, UBQLN2 was not found to be a cause of familial ALS in the Netherlands.
最近发现 UBQLN2 基因突变是一种 X 连锁显性家族性肌萎缩侧索硬化症 (ALS) 的病因。我们在荷兰的一个 ALS 家系队列中研究了该基因的突变频率。由于存在男性到男性的传递，有 8 个家系被排除在外。在其余的 84 个家族性 ALS 病例中，没有发现 UBQLN2 基因突变。因此，UBQLN2 未被发现是荷兰家族性 ALS 的病因。
