Central nervous system manifestations of inherited syndromes

Inherited diseases that manifest central nervous system (CNS) abnormalities have been recognized since the early days of medicine. In recent years, with more sophisticated genetic mapping such as high-resolution chromosomal analysis, specific chromosomal abnormalities have been identified in many of these diseases. With the advent of magnetic resonance imaging (MRI), it is now possible to delineate more fully, with anatomical detail, the spectrum of CNS abnormalities associated with these syndromes. The high sensitivity of MRI has allowed insight into the natural history of these disorders and has permitted more precise clinical diagnoses. Furthermore, clinical outcome of affected patients promises to be more accurately predicted, while screening of asymptomatic family members can also be performed. This paper reports on numerous hereditary diseases that manifest CNS abnormalities