Genetic and perinatal risk factors for movement disorders

Melinda Barkhuizen

Research output: ThesisDoctoral ThesisMixed; collaboration

1789 Downloads (Pure)


Huntington’s disease (HD) is a fatal genetic disease which causes uncontrolled movements by affecting the striatum of the brain. Genetics only partially predict the age of onset. Firstly, the research showed that in a cohort of 13.856 HD-carriers, persons with birth complications were diagnosed up to 6 years earlier. The most common birth complication among these persons: perinatal asphyxia (PA), increased nitrosidative stress in the striatum of a rat model. Nitrosidative stress is also an important factor in HD and could contribute to the gene-environment interaction found. Lastly, we showed that treatment with bone-marrow derived stem cells shortly after PA reduced the degree of disability in adulthood.
Original languageEnglish
Awarding Institution
  • Maastricht University
  • North-West University
  • Kramer, Boris, Supervisor
  • Steinbusch, Harry, Supervisor
  • Grobler, Anne F., Supervisor, External person
  • Gavilanes, A.D.W., Co-Supervisor
Award date4 Dec 2017
Place of PublicationMaastricht
Print ISBNs9789462958227
Publication statusPublished - 2017


  • Huntington's disease
  • birth complication
  • perinatal asphyxia
  • gene-environmental interaction
  • stem cell


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