Cerebrotendinous xanthomatosis (CTX) is a rare, but treatable inborn error of metabolism and diagnosis is often delayed by many years, losing a window of opportunity to start early treatment, preventing irreversible symptoms and shorten the diagnostic odyssey for patients and families. The aim of this thesis was to expand the knowledge about the phenotypic heterogeneity in CTX and to describe the long-term follow-up effects of treatment. Part I of this thesis starts with an expert opinion on diagnosis, treatment, and management of patients with CTX. Part II expands the knowledge about the phenotypic heterogeneity in CTX. A better understanding of the phenotypic heterogeneity in CTX hopefully leads to a better and earlier recognition of this disease. And in Part III, the long-term follow-up treatment effects are discussed. This thesis emphasizes the importance of early diagnosis in CTX and provides a strong argument to include CTX in newborn screening programs.
Bianca Stelten (1985), did her formal training as a neurology resident at the Canisius Wilhelmina Hospital in Nijmegen. She has combined her clinical work with research on cerebrotendinous xanthomatosis. Since 2017, she is working as a neurologist at the Catharina Hospital in Eindhoven, with special interest in movement disorders.