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VPS35 Parkinson’s disease phenotype resembles the sporadic disease

  • Neurology and Preclinical Neurological Studies - Short communication
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Abstract

Recently a new autosomal dominant Parkinson’s disease mutation (p.Asp620Asn) in the VPS35 gene was discovered. The clinical features of 14 PD patients with this mutation from three Austrian families were evaluated. Age at disease-onset appears lower and depression was more common in Austrian patients compared to sporadic PD patients. However, we were unable to identify a specific clinical maker of VPS35 patients, who otherwise resemble sporadic PD patients.

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Conflict of interest

Volker Tomantschger has received sponsorship from Abbott, Boehringer Ingelheim, Ipsen, Lundbeck and UCB to attend conferences and meetings, and has received honoraria from serving on the advisory boards UCB and Novartis. Helmut Grantl-Pühringer reported study honoraria by Merz Pharma Austria. Franz Memelauer holds shares of BB Biotech AG and Intercell. Werner Poewe has received consultancy and lecture fees from AbbVie, Astra Zeneca, Teva, Novartis, GSK, Boehringer-Ingelheim, UCB, Orion Pharma, Merz and Merck Serono in relation to clinical drug development programmes for PD. Gerhard Ransmayr has received speakers and consultation honoraria and travel grants from Abbot, Allergan, Biogen-Idec, Boehringer-Ingelheim, Cephalon, Esai, GSK, Lundbeck, Merck-Serono, Merz, Novartis, UCB. Gerhard Ransmayr is member of the managing board of Lundbeck, Novartis, and has clinical research contracts with Abbot, BIAL, Biogen-Idec, Lundbeck, Novartis, Sanofi-Aventis. The other authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Neurology, Allgemeines Krankenhaus Linz (AKHL), Krankenhausstr. 9, 4020, Linz, Upper Austria, Austria

    Walter Struhal & Gerhard Ransmayr

  2. Department of Neurology, Wilhelminenspital (WS), Montleartstraße 37, 1160, Vienna, Vienna, Austria

    Stefan Presslauer & Thomas Bruecke

  3. University Department of Neurology, Medizinische Universität Innsbruck (MUI), Anichstr. 35, 6020, Innsbruck, Tyrol, Austria

    Sabine Spielberger & Werner Poewe

  4. University Department of Neurology, Medizinische Universität Wien, Vienna, Austria, Spitalgasse 23, 1090, Vienna, Vienna, Austria

    Alexander Zimprich & Eduard Auff

Authors
  1. Walter Struhal
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  2. Stefan Presslauer
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  3. Sabine Spielberger
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  4. Alexander Zimprich
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  5. Eduard Auff
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  6. Thomas Bruecke
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  7. Werner Poewe
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  8. Gerhard Ransmayr
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Consortia

The Austrian VPS-35 Investigators Team

Corresponding author

Correspondence to Walter Struhal.

Austrian VPS-35 investigators team

Austrian VPS-35 investigators team

Elisabeth Wolf, MD3, Klaus Seppi, Prof.3, Susanne Schmidegg, MD1, Michael Guger, MD1, Michaela Steffelbauer, MD1, Andrija Javor, MD1, Stephanie Hoedl, MD1, Volker Tomantschger, MD5, Helmut Grantl-Pühringer, MD6, Angelika Fahrner, MD1, Stephan Hoegler, MD7, Franz Memelauer, MD8, Tim M. Strom, PD9.

1Department of Neurology, Allgemeines Krankenhaus, Linz, Austria (AKHL), Krankenhausstr. 9, 4020 Linz, Austria.

3University Department of Neurology, Medizinische Universität Innsbruck, Innsbruck, Austria (MUI), Anichstr. 35, A 6020 Innsbruck, Austria.

5Department of Neurorehabilitation, Gailtal-Klinik, Hermagor, Austria. Radniger Str 12, A 9620 Hermagor, Austria.

6Department of Neurology, Krankenhaus Steyr, Steyr, Austria, Sierninger Straße 170, A 4400 Steyr, Austria.

7Department of Neurology, Krankenhaus Barmherzige Schwestern Ried, Ried, Austria, A-4910 Ried i.I., Schlossberg 1, Austria.

8Private practice, 3300 Amstetten, Austria, Preinsbacherstraße 90, A-3300 Amstetten, Austria.

9Institute of Human Genetics, Helmholtz Zentrum Munchen, Germany, Ingolstädter Landstraße 1, D-85764 Neuherberg, Germany.

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Struhal, W., Presslauer, S., Spielberger, S. et al. VPS35 Parkinson’s disease phenotype resembles the sporadic disease. J Neural Transm 121, 755–759 (2014). https://doi.org/10.1007/s00702-014-1179-1

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  • DOI: https://doi.org/10.1007/s00702-014-1179-1

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