Clinical Neurogenetics

Our research

Our group studies genetic causes of Parkinson’s disease (PD) and other neurological/neurodegenerative movement disorders. Emphasis presently lies on patients and families with inherited disease forms, where mutations in a single gene cause the disease. Such genetic disease forms offer the possibility to discover and study novel disease mechanisms.

Genetic testing is increasingly used for diagnostic purposes within health services. We investigate which patients most likely benefit from genetic testing to develop efficient testing algorithms for clinical use. Our approaches also include how to interpret novel genetic findings, and the perspectives of patients and families who undergo genetic testing.

We also examine the long-term course of PD in a cohort of patients who have been followed until a mean of 15 years disease duration. In this cohort, we search for clinical and biomarker signs in earlier disease stages that can predict the probable future disease course.

Aims

To study the occurrence of genetic forms of PD and other neurological/neurodegenerative movement disorders in Southern Sweden.
To develop algorithms for genetic testing for these disorders adapted to their occurrence.
To study patients and families with PD and other neurological movement disorders in order to identify novel genetic disease causes.
To establish a registry for patients with genetic forms of neurological movement disorders for research on the clinical picture and inclusion in multi-center studies.
To identify which factors in early disease course can predict good or poorer long-term outcomes in PD.

Impact

Modern genetic methods have been developed rapidly and we see an exponential increase in knowledge on genetic forms of Parkinson’s disease and other neurological movement disorders. Our research makes sure these developments are implemented for the benefit of patients with severe neurological/neurodegenerative disorders in clinical practice.

How our research contributes to the goals of MultiPark

Our research on genetic disease causes and the longitudinal course of Parkinson’s disease falls within the main MultiPark goal to understand the origins and progression of neurodegenerative diseases. Our research addresses the aim of MultiPark's working group 6.