UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands

作者：van Doormaal Perry T C; van Rheenen Wouter; van Blitterswijk Marka; Schellevis Raymond D; Schelhaas Helenius J; de Visser Marianne; van der Kooi Anneke J; Veldink Jan H; van den Berg Leonard H^*

来源：Neurobiology of Aging, 2012, 33(9): 2233.e7.

DOI：10.1016/j.neurobiolaging.2012.02.032

• Amyotrophic lateral sclerosis
• Motor neuron disease
• UBQLN2
• ubiquilin 2

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.

• 出版日期2012-9