Morbus Parkinson

Translated title of the contribution: Parkinson’s disease

Max Borsche, Christine Klein*

*Corresponding author for this work


Monogenic Parkinson’s disease (PD), i. e. parkinsonism caused by mutations in single genes, represents ~5% of all PD cases. Over the past 20 years, three autosomal dominantly (SNCA, LRRK2, VPS35) and three autosomal recessively (Parkin, PINK1, DJ-1) inherited causal PD genes have been identified and validated. Although pathogenic changes in SNCA are very rare, begin early, and may be associated with the development of dementia, pathogenic variants in LRRK2-linked PD are most common among monogenic PS and patients are clinically indistinguishable from those with idiopathic PD. In patients with onset before the age of 40 years, pathogenic variants in the Parkin and PINK1 genes should be suspected, and in patients with a positive family history, genetic counseling should be carried out. Recently, dynamic developments in the area of Parkinson’s genetics have led to new therapeutic approaches and the first gene-specific therapies have entered the early testing phase. Besides the established monogenic PD genes, candidate genes have been identified, but not yet conclusively validated. In addition to established monogenic PD, as yet unvalidated Parkinson’s candidate genes and well-characterized genetic risk exist at this time. As monogenic PD represents a “model disease” for idiopathic PD too, further progress toward more personalized medicine may be expected for both monogenic and idiopathic PD.

Translated title of the contributionParkinson’s disease
Original languageGerman
JournalMedizinische Genetik
Issue number2
Pages (from-to)267-273
Number of pages7
Publication statusPublished - 01.06.2018

Research Areas and Centers

  • Research Area: Medical Genetics


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