A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations

作者：Beeldman Emma^*; Van der Kooi Anneke J; De Visser Marianne; Van Maarle Merel C; Van Ruissen Fred; Baas Frank

来源：Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2015, 16(5-6): 410-411.

DOI：10.3109/21678421.2015.1066821

Approximately 10% of motor neuron disease (MND) patients report a familial predisposition for MND. Autosomal recessively inherited MND is less common and is most often caused by mutations in the superoxide dismutase 1 (SOD1) gene. In 2010, autosomal recessively inherited mutations in the optineurin (OPTN) gene were found in 1% of Japanese patients with sporadic amyotrophic lateral sclerosis (ALS). Autosomal dominantly inherited OPTN mutations have been described as a cause of primary open-angle glaucoma in the Netherlands and were also found in two Dutch sporadic MND patients. We report the first Dutch family with autosomal recessively inherited MND caused by mutations in the OPTN gene.

• 出版日期2015-8-27