Johann Hagenah

TL;DR: It is demonstrated in human primary fibroblasts and induced pluripotent stem-derived neurons from controls and PINK1 mutation carriers that endogenous levels of Parkin are not sufficient to initiate mitophagy upon loss of the mitochondrial membrane potential, caused by its (self-)ubiquitination, followed by degradation via the ubiquitin proteasome system.

TL;DR: The results on global network and module properties indicated that PD manifests as a disconnection syndrome, and the degree of intrinsic functional connectivity was mapped both on ROI- and on voxel-level across the brain.

TL;DR: Although mutations in THAP1 might have only a minor role in patients with different, but mainly focal, forms of dystonia, they do seem to be associated with early-onset generalised dySTONia with spasmodic dysphonia.

TL;DR: A study was undertaken to identify the gene underlying DYT4 dySTONia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus in an Australian family.

TL;DR: Long-term follow-up of a large family W provides an excellent opportunity to further evaluate the role of single heterozygous PINK1 mutations later in life, which will have major implications on genetic counseling.