S
Sabine Spielberger
Researcher at Innsbruck Medical University
Publications - 12
Citations - 996
Sabine Spielberger is an academic researcher from Innsbruck Medical University. The author has contributed to research in topics: Deep brain stimulation & Parkinsonism. The author has an hindex of 6, co-authored 11 publications receiving 899 citations.
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Journal ArticleDOI
A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
Alexander Zimprich,Anna Benet-Pagès,Walter Struhal,Elisabeth Graf,Sebastian H. Eck,Marc N. Offman,Dietrich Haubenberger,Sabine Spielberger,Eva C. Schulte,Peter Lichtner,Shaila C. Rossle,Norman Klopp,Elisabeth Wolf,Klaus Seppi,Walter Pirker,Stefan Presslauer,Brit Mollenhauer,Regina Katzenschlager,Thomas Foki,Christoph Hotzy,Eva M. Reinthaler,Ashot S. Harutyunyan,Robert Kralovics,Annette Peters,Fritz Zimprich,Thomas Brücke,Werner Poewe,Eduard Auff,Claudia Trenkwalder,Burkhard Rost,Gerhard Ransmayr,Juliane Winkelmann,Thomas Meitinger,Tim M. Strom +33 more
TL;DR: An Austrian family with 16 affected individuals by exome sequencing found a missense mutation, c.1858G>A (p.Asp620Asn), in the VPS35 gene in all seven affected family members who are alive, and found the same variant cosegregating with the disease in an autosomal-dominant mode with high but incomplete penetrance.
Journal ArticleDOI
Effect and safety of duodenal levodopa infusion in advanced Parkinson’s disease: a retrospective multicenter outcome assessment in patient routine care
Angelo Antonini,Per Odin,L. Opiano,Volker Tomantschger,Claudio Pacchetti,Barbara A. Pickut,U. E. Gasser,Daniela Calandrella,Francesca Mancini,Maurizio Zibetti,Brigida Minafra,I. Bertaina,P.P. De Deyn,C. Cras,Elisabeth Wolf,Sabine Spielberger,Werner Poewe +16 more
TL;DR: The results demonstrate significant and sustained benefit over a long observation period in motor complications and in quality of life following a change from oral pulsatile to continuous levodopa delivery.
Journal ArticleDOI
Correlation of dopaminergic terminal dysfunction and microstructural abnormalities of the basal ganglia and the olfactory tract in Parkinson's disease.
Christoph Scherfler,Regina Esterhammer,Michael Nocker,Philipp Mahlknecht,Heike Stockner,Boris Warwitz,Sabine Spielberger,Bernadette Pinter,Eveline Donnemiller,Clemens Decristoforo,Irene Virgolini,Michael Schocke,Werner Poewe,Klaus Seppi +13 more
TL;DR: A significant association between increased mean diffusivity signal and decreased 6-[(18)F] fluorolevodopa uptake is reported, indicating that microstructural degradation of the substantia nigra and the olfactory tract parallels progression of putaminal dopaminergic dysfunction in Parkinson's disease.
Journal ArticleDOI
VPS35 Parkinson's disease phenotype resembles the sporadic disease.
Walter Struhal,Stefan Presslauer,Sabine Spielberger,Alexander Zimprich,Eduard Auff,Thomas Bruecke,Werner Poewe,Gerhard Ransmayr +7 more
TL;DR: A new autosomal dominant Parkinson’s disease mutation (p.Asp620Asn) in the VPS35 gene was discovered, but it was unable to identify a specific clinical maker of V PS35 patients, who otherwise resemble sporadic PD patients.