Parkinson's disease (PD) is characterized by α-synuclein-positive aggregates in the form of Lewy bodies and Lewy neurites. Point mutations, as well as duplications and triplications of the SNCA gene…
Philipp Kahle is head of the Functional Neurogenetics group at the HIH/DZNE Tübingen. Research aims at the understanding of neuropathological and epigenetics mechanisms of α-synuclein as well as…
Inga Liepelt-Scarfone is a neuropsychologist. As head of the Integrated Clinical and Research Unit (ICRU) of the DZNE Tübingen, she is responsible for a seemless workflow in numerous clinical…
Mutations in the gene encoding PINK1 cause early onset Parkinson's disease. PINK1 is a mitochondrial kinase that acts as a cellular stress sensor and is an upstream component of several signaling…
Most of the familial PD cases are caused by recessive mutations in the PARK2/PARKIN gene, which may also be a genetic risk factor for sporadic PD. The PARKIN gene product functions as an E3…
α-Synuclein is one of the top-most genetic risk factors for PD and the protein is the major building block of Lewy bodies, the neuropathological hallmarks in the brain of PD patients. We are using…
Heterozygous mutations in the GBA gene represent the most common genetic risk factor for PD. We built-up a large cohort of PD patients carrying a GBA mutation (PDGBA). Our own findings of PDGBA…
