Sarah Böhm

TL;DR: Neurofilaments in CSF have a high relevance for the differential diagnosis of MNDs and should be included in the diagnostic work-up of patients and their value as prognostic markers should be investigated further.

TL;DR: A new methodological diffusion tensor imaging-based approach to automatically analyse in vivo the fibre tracts that are prone to be involved at each neuropathological stage of amyotrophic lateral sclerosis, enlarges the spectrum of potential non-invasive surrogate markers as a neuroimaging-based read-out for amyotropolitan sclerosis studies within a clinical context.

TL;DR: The German/Swiss-German version of the ECAS is a fast and easy to administer cognitive screening instrument sensitive for ALS-specific dysfunctions and behaviour change.

TL;DR: The association between NEK1 variants and familial ALS was assessed using whole exome sequence data of 265 familial ALS index patients and 827 control individuals to assess the variant burden inNEK1.

TL;DR: The cognitive profile of patients with discrete MRI stages 2-4 correlated significantly with DTI parameters, and for those patients with cognitive impairment, there was a high congruency between MRI and Cognitive-Staging with high specificity and sensitivity of executive functions forMRI stage 2, disinhibited behaviour for MRI stage 3 and moderate of memory for MRI stages 4.