Thesis defense Nienke van Os (Donders series 490)

19 March 2021

Promotors: Prof. dr. M.A.A.P. Willemsen, Dr. B.P.C. van de Warrenburg
Co-promotors: Dr. C.M.R. Weemaes, Dr. ir. N. Roeleveld

Ataxia-telangiectasia: disease course and management

Ataxia-telangiectasia (A-T)is a rare hereditary, childhood-onset disease that is caused by mutations in the ATM gene. Children and adults with A-T have neurological movement disorders, immune deficiency, lung problems, and they are at increased risk to develop malignancies. In this thesis the results of a retrospective study of a nation-wide cohort of 70 Dutch patients with A-T are presented. First, the disease course of adult patients with both the classic and the variant forms of A-T are being described. Furthermore, genetic and immunological factors that contribute tot the disease severity and life expectancy of patients with A-T are being identified. Lastly, this thesis provides guidelines for the clinical management of both patients with A-T and for carriers of a disease-causing ATM mutation.