Genetic and perinatal risk factors for movement disorders

Melinda Barkhuizen

doi:10.26481/dis.20171204mb

Genetic and perinatal risk factors for movement disorders

Melinda Barkhuizen

Research output: Thesis › Doctoral Thesis › Mixed; collaboration

1749 Downloads (Pure)

Abstract

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 language	English
Awarding Institution	Maastricht University North-West University
Supervisors/Advisors	Kramer, Boris, Supervisor Steinbusch, Harry, Supervisor Grobler, Anne F., Supervisor, External person Gavilanes, A.D.W., Co-Supervisor
Award date	4 Dec 2017
Place of Publication	Maastricht
Publisher	Maastricht University
Print ISBNs	9789462958227
DOIs	https://doi.org/10.26481/dis.20171204mb
Publication status	Published - 2017

Keywords

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

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10.26481/dis.20171204mb

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Cite this

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title = "Genetic and perinatal risk factors for movement disorders",

abstract = "Huntington{\textquoteright}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. ",

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