Abstract
Besides the more frequent sporadic form of Parkinson's disease, where the genetic contribution is not apparent, 9 disease-causing genes have been identified in familial forms of the disease that may act as risk or protective factors in the common sporadic from as well. The 3 dominant forms (PARK1/PARK4, PARK8, PARK17) and also 3 of recessive forms (PARK2, PARK6, PARK7) cause a phenotype similar to the idiopathic form of the disease. The other 3 recessive forms rather present as juvenile Parkinsonism with an atypical phenotype including rapid disease progression. By far the most common mutations in patients with dominant inheritance were found in the LRRK2 gene (PARK8) and in patients with a recessive inheritance in the Parkin gene (PARK2). For both, the monogenetic and sporadic forms, pathophysiologic mechanisms like impaired protein degradation, oxidative stress, and mitochondrial dysfunction are in the focus. In well-chosen cases of private or occupational life-planning, specific genetic testing could be useful to confirm the diagnosis, especially for younger patients.
Translated title of the contribution | Update on the genetics of Parkinson's disease: Implications for molecular pathogenesis and diagnosis |
---|---|
Original language | German |
Pages (from-to) | 16-19 |
Number of pages | 4 |
Journal | Journal fur Neurologie, Neurochirurgie und Psychiatrie |
Volume | 15 |
Issue number | 1 |
Publication status | Published - 2014 |
Externally published | Yes |
Keywords
- Impaired protein degradation
- Mitochondrial dysfunction
- Monogenetic dominant or recessive Parkinsonism
- Oxidative stress
- Risk and protective gene variants