- On the origin of pontocerebellar hypoplasia: Finding genes for a rare disease
- Award date
- 17 June 2016
- Number of pages
- Document type
- PhD thesis
- Faculty of Medicine (AMC-UvA)
Pontocerebellar hypoplasia (PCH) is a recessive neurodegenerative disease with, in most cases, a prenatal onset. The patients suffer from severe intellectual and motor impairments. The majority of patients dies in childhood.
This thesis describes novel genes and genotype-phenotype correlations in PCH. In chapter 2 we confirm the presence of PCH and disorders of sex development as an isolated disease (PCH subtype 7). Chapter 3 focuses on genotype-phenotype correlations in EXOSC3-related PCH. We describe a cohort of twelve families and show that specific mutations can predict disease progression. Chapter 4 describes CLP1 as a novel PCH-causing gene and investigates the function of CLP1 in brain development using a zebrafish model. Chapter 5 discusses (t)RNA processing deficiencies as possible underlying disease mechanism in PCH.
- Research conducted at: Universiteit van Amsterdam
Thesis (complete) (Embargo up to and including 17 June 2018)
Chapter 2. TOE1 mutations cause pontocerebellar hypoplasia and disorders of sex development (Embargo up to and including 17 June 2018)
If you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Ask the Library, or send a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible.