Article
A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Jan 2015
Beeldman Emma, van der Kooi Anneke J, de Visser Marianne, van Maarle Merel C, van Ruissen Fred, Baas Frank
Abstract excerpt
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...
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