Detail

Keywords

Genetics

Research interests

We are interested in the identification of genetic susceptibility factors for neurological diseases. Particularly, our focus lies on Parkinson´s disease and Multiple Sclerosis. Both diseases have a significant genetic component. In the last 15 years a number of genetic susceptibility factors were found which contribute to disease development. However, the loci found so far cannot explain the observed heritability. We are currently performing Next generation “Exome sequencing” in familial Parkinson´s disease and Multiple Sclerosis patients to find high penetrant genes.

Techniques, methods & infrastructure

We are employing Genotyping with Microarrays and Next generation “Exome” sequencing. A large part of the work also includes recruiting and clinically characterizing patients.

Selected publications

1. Stogmann E, Reinthaler E, ElTawil S, El Etribi M, Hemeda M, El Nahhas N, Gaber A, Fouad A, Edris S, Benet-Pages A, Eck S, Pataraia E, Mei D, Brice A, Lesage S, Guerrini R, Zimprich F, Strom T, Zimprich A (2013) Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2 Brain, 136 (4): 1155-1160
2. Zimprich A (2012) Phenocopies in families with essential tremor and restless legs syndrome challenge Mendelian laws. Epigenetics might provide answers Parkinsonism & Related Disorders, 18 (6): 711-716
3. Zimprich A, Benet-Pages A, Struhal W, Graf E, Eck S, Offman M, Haubenberger D, Spielberger S, Schulte E, Lichtner P, Rossle S, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brücke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom T (2011) A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease Am J Hum Genet,
4. Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Müller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology Neuron
5. Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Müller-Myhsok B, Riedel L, Bauer M, Müller T, Castro M, Meitinger T, Strom TM, Gasser T (2001) Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome Nature Genetics