Defining amyotrophic lateral sclerosis associated with mutations in the NEK1 gene

Institution: Department of Neurology, University of Ulm
Applicant: PD Dr David Brenner
Funding line:
Else Kröner Excellence Fellowships

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.

Here you can find further information.