The Genetics of Cerebral Palsy
摘要
This chapter describes the recent insights into the contribution of genetics to cerebral palsy (CP). Epidemiological studies on familial recurrence of CP and the higher incidence of congenital anomalies in CP patients have long been suggesting a contribution of genetic factors to the aetiology of CP. Recent large-scale genetic studies have now proven that both chromosomal copy number variants and monogenic disorders play an important role in CP aetiology. Describes the history of genetic discoveries in CP up to today, describes the currently available genetic tests in the diagnostic setting and proposes a genetic testing strategy in CP cases. Furthermore, it reflects on the relevance of a genetic diagnosis for clinical management and counselling of families, e.g. regarding recurrence risks and family planning. Finally, it provides some future perspectives on the identification of novel CP-related genes and potential therapeutic targets, as well as on methods to improve diagnostic yield.