Practical Genetics for the Neuroradiologist: Adding Value in Neurogenetic Disease

Genetic discoveries have transformed our understanding of many neurologic diseases. Identification of specific causal pathogenic variants has improved understanding of pathophysiology and enabled replacement of many confusing eponyms and acronyms with more meaningful and clinically relevant genetics-based terminology. In this era of rapid scientific advancement, multidisciplinary collaboration among pediatricians, neurologists, geneticists, radiologists, and other members of the health care team is increasingly important in the care of patients with genetic neurologic diseases. Radiologists familiar with neurogenetic disease add value by (1) recognizing constellations of characteristic imaging findings that are associated with a genetic disease before one is clinically suspected; (2) predicting the most likely genotypes for a given imaging phenotype in clinically suspected genetic disease; and (3) providing detailed and accurate descriptions of the imaging phenotype in challenging cases with unknown or uncertain genotypes. This review aims to increase awareness and understanding of pathogenic variants relating to neurologic disease by (1) briefly reviewing foundational knowledge of chromosomes, inheritance patterns, and mutagenesis; (2) providing concrete examples of and detailed information about specific neurologic diseases resulting from pathogenic variants; and (3) highlighting clinical and imaging features that are of greatest relevance for the radiologist.