Jung
Fakultäten » Medizinische Fakultät » Neurologie, Klinik für » PD Dr. Hans H. Jung » Jung
Completed research project
| Title / Titel | Genetic factors influencing the phenotype of extrapyramidal tauopathies | ||||
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| Abstract (PDF, 14 KB) | |||||
| Summary / Zusammenfassung | Neurodegenerative tauopathies with prominent extrapyramidal features, namely progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and hereditary fronto-temporal dementia/parkinsonism linked to chromosome 17 (FTDP-17) are important differential diagnosis of the idiopathic Parkinson disease (PD). The common pathological hallmark of PSP, CBD, and FTDP-17 is the aggregation of four-repeat tau isoforms. These disorders are commonly sporadic. However, particular tau gene (MAPT) mutations were demonstrated to cause phenotypes with features of PSP, CBD or FTDP, thus demonstrating a profound inter- and intrafamiliar phenotypic variation. In addition, tau polymorphisms appear to be genetic risk factors for sporadic PSP and CBD, since both disorders share a common tau haplotype in particular populations. We include patients with PSP, CBD, or FTD phenotypes by means of neurological examination, cognitive testing, and assessment of neuroradiological data. We examine candidate genes for dementing extrapyramidal disorders and calculate allelic and genotype frequency differences. The data obtained will allow to determine if molecular genetic alterations are associated with particular phenotypes of extrapyramidal tauopathies in the Swiss population. | ||||
| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
Foundation European Neurological Society, Betty and David Koetser Foundation for Brain Research, Parkinson Suisse |
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| Duration of Project / Projektdauer | Jun 2007 to Dec 2009 |