Klinische Neurowissenschaften Bern
Clinical and clinical investigational data of patients suffering from a neurological disorder with a positive family history, or with a typical neurogenetic phenotype are compared with molecular findings. These include investigations, which are possible in a normal investigational frame, but especially those with rare disorders, in which a direct molecular testing is not readily available. Genes with mutations known to be involved in specific disorders are being tested first, in cases, where no mutation has been found, further search may include genetic chip technology or linkage studies if the family pedigree is potentially informative. Once new mutations are known, the mechanisms underlying the disease process are studied with appropriate cellular methods, usually in collaboration with specific expertise laboratories.
Parkinson’s disease is a disorder, which usually occurs in a sporadic fashion, although familial cases are seen once in a while. In the majority of cases of Parkinson’s disease, a genetic predisposition is thought to lead to the disease when some environmental influence is synergically acting upon. In order to examine this genetic influence, correlation with the presence of single nucleotide markers, either throughout the genome, or according to specific preconceived hypothesis is examined. Our present interest is in the LRRK2 and in the ATP13A2 genes.
We also take advantage of our international collaboration with Asian groups to search for differences in incidence and phenotype in specific neurogenetic disorders, in particular Huntington’s disease and hereditary spastic paraplegia.