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IAPP on novel genetic and phenotypic markers of Parkinson's disease and Essential Tremor

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Genetic indicators — Parkinson's disease

EU research is looking for markers to identify patients likely to develop Parkinson’s or Essential Tremor (ET) disease. Early treatment would be of benefit for these debilitating diseases.

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Parkinson’s disease (PD) is a degenerative disorder caused by the death of dopamine-generating cells in the midbrain. ET is also a progressive neurological disorder, which is characterised by tremor in the upper limbs and its cause is so far unknown. The 'IAPP on novel genetic and phenotypic markers of Parkinson's disease and Essential Tremor' (MARKMD) project has completed research on identifying genetic markers for PD and ET. The search focused on copy number variations (CNVs). Changes in number of genes due to duplication or deletion of genetic material, CNVs are generally associated with susceptibility or resistance to disease. Study of an Icelandic group of subjects and a 2 500 strong cohort in Germany confirmed that CNVs were associated with PD. Partners merging their data found single genes that are significantly associated with PD and their results were published in the Lancet. Moreover, markers identified in certain regions of the parkin gene are connected with a high risk of developing the disease. In parallel with the genetic studies, the researchers worked on detailed clinical identification of PD patients. The battery of tests included neurological examinations, ultrasound imaging as well as measuring sense of smell, mood and cognitive function. For ET, the team further clarified the role of the LINGO1 gene. Input of other genes, notably rs9652490 was characterized on a range of ET characteristics. An assessment battery using up to 100 patients included all family and medical history, together with a complete set of neurological tests. Altogether, 13 articles in peer-reviewed journals have been published. MARKMD has succeeded in building a lasting synergy with leading research groups in the neurodegenerative disease field with complementary expertise and resources. For the future, the collaboration is continuing under the NEUROMICS project.


Parkinson's disease, Essential Tremor, genetic marker, copy number variations, assessment battery

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