Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease. Genetic changes in the NEK1 gene are among the most common genetic causes of ALS (NEK1-ALS). However, the clinical picture and molecular mechanisms of NEK1-ALS are largely unexplored. In this project, the team will therefore comprehensively characterize patients with NEK1-ALS employing clinical analysis, MR imaging and wet biomarkers. In addition, the scientists mean to identify the disease-defining molecular changes by examining human motor neuron cultures and brain tissue from deceased patients with different NEK1 mutations. By elucidating the molecular pathogenesis of NEK1-ALS, the project can hopefully contribute to a better classification of unclear NEK1 gene variants and to the development of specific therapies.
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