Journal of Neurology

, Volume 255, Supplement 5, pp 8–17

Genes associated with Parkinson syndrome

  • Saskia Biskup
  • Manfred Gerlach
  • Andreas Kupsch
  • Heinz Reichmann
  • Peter Riederer
  • Peter Vieregge
  • Ullrich Wüllner
  • Thomas Gasser
Article

DOI: 10.1007/s00415-008-5005-2

Cite this article as:
Biskup, S., Gerlach, M., Kupsch, A. et al. J Neurol (2008) 255(Suppl 5): 8. doi:10.1007/s00415-008-5005-2

Abstract

Genetic findings have changed our views on Parkinson’s disease (PD) and parkinsonism, which will be collectively referred to as Parkinsonian Syndrome (PS) in the present manuscript. Mutations in several genes are found to cause monogenic forms of the disorder. Point mutations, duplications and triplications in the α-synuclein gene cause a rare dominant form of PS in families. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified as a much more common cause for dominant PS, especially in certain ethnic groups, while mutations in the parkin gene, in DJ-1, PINK1 and ATP13A2 cause autosomal recessive parkinsonism of early onset. The monogenic variants are important tools in identifying cellular pathways that also shed light on the molecular pathogenesis of sporadic PS and some of these genes may play a role in the etiology of the common sporadic form of PS. Here we add recent findings to a greatly challenging puzzle.

Key words

Parkinson’s disease genetics LRRK2 synuclein parkin PINK1 DJ1 ATP13A2 

Copyright information

© Springer 2008

Authors and Affiliations

  • Saskia Biskup
    • 2
    • 3
  • Manfred Gerlach
    • 4
  • Andreas Kupsch
    • 5
  • Heinz Reichmann
    • 6
  • Peter Riederer
    • 7
  • Peter Vieregge
    • 8
  • Ullrich Wüllner
    • 9
  • Thomas Gasser
    • 1
    • 2
  1. 1.Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain ResearchUniversity of TübingenTübingenGermany
  2. 2.Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain ResearchUniversity of TübingenTübingenGermany
  3. 3.Dept. of Medical GeneticsUniversity of TübingenTübingenGermany
  4. 4.Dept. of Child and Adolescent Psychiatry Psychosomatics and Psychotherapy, Laboratory for Clinical NeurobiologyUniversity of WürzburgWürzburgGermany
  5. 5.Dept. of NeurologyCharité, Campus VirchowBerlinGermany
  6. 6.Dept. of NeurologyTechnical University of DresdenDresdenGermany
  7. 7.Dept. of Clinical NeurochemistryUniversity of WuerzburgWuerzburgGermany
  8. 8.Dept. of NeurologyKlinikum Lippe-LemgoLemgoGermany
  9. 9.Dept. of NeurologyUniversity of BonnBonnGermany

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