荷兰家族性肌萎缩侧索硬化症中的 UBQLN2。
UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands.
机构信息
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands.
出版信息
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。
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