Genetics in Parkinson's disease

(medical)genetics Parkinson's disease

prof. dr. T. van Laar
Dr. F. Vansenne

Nature of the research:
Genetic analysis of a big cohort of 1200 patients with PD from the UMCG and Martini hospital

Fields of study:
neurology genetics

Background / introduction
In the nordic part of the Netherlands no systematic analysis of the genetic profile of the PD patients has been performed. This study will start with this genetic analysis, using the Neuropanel, which contains the currently known genes, related to monogenetic forms of PD. The first target populations are patients with at least 1 relative (1th. or 2 nd. grade) also being diagnosed with PD, and early onset PD (< 40 yrs.)
Research question / problem definition
What is the prevalence and distribution of monogenetic forms of PD in the nordic population of PD patients
1. Creating a database of familial PD and young onset PD
2. Offering genetic counseling to all patients who are offered genetic testing
3. Perform genetic testing based on the Neuropanel
4. Based on these findings we want to develop a protocol in order to tailor pharmacological treatment related to the genetic profiles of the patients
1. Polymeropoulos et al [1997]
2. Funayama et al [2002], Paisán-Ruíz et al [2004], Zimprich et al [2004]
4. Vilariño-Güell et al [2011]
5. Zimprich et al [2011]
6. Lesage et al [2012]
7. Sheerin et al [2012]
8. Sharma et al [2012]
10. Kitada et al [1998]
12. Valente et al [2001], Valente et al [2004]
13. van Duijn et al [2001]
14. Ramirez et al [2006]
15. Di Fonzo et al [2009]
16. Paisán-Ruiz et al [2010]
17. Kurian et al [2009]
18. Lee et al [1991]
19. Graeber & Muller [1992]
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