Figure 1.

Molecular versus phenotypic precision. The classical presentations of neurodegenerative disease led to identification of their underlying molecular pathology. However, those pathologies in turn have been associated with diverse clinical phenotypes. Although some clinico-pathological correlations are strong, none are wholly exclusive. Even where autosomal dominant genetic disease gives molecular precision, pleiotropy leads to diverse clinical manifestations of the disease. (Figure prepared by Rowe.)