Thema der Masterarbeit:
"X-linked Hydrocephalus caused by mutations in L1CAM - a molecular analysis of historical individuals".
X-linked hydrocephalus has an incidence of one in 30.000 male birth, caused by mutations in the L1CAM gene, a cell adhesion molecule. Its key functions are neurite elongation, axon fasciculation and migration of neuronal precursors. The L1CAM gene is encoded by 28 exons with a total length of 3771 bp. To date, 240 mutations are known of which 193 are classified as disease-causing.
Aim of this master´s thesis research is a molecular analysis of individuals taken from the historical collection of the university of Goettingen. The individuals of interest are one child and one adult man who is of special interest, since the best chances to survive this disease came with modern neurosurgical treatments in the 20th century.