Genetic Dysregulation and White Matter MR Phenotype

Marjo S. van der Knaap¹

Different causes, both genetic defects and acquired causes, for white matter disorders lead to different patterns of abnormalities on brain MRI. These patterns are homogeneous among patients with the same disorder and different for patients with other disorders. These different and consistent MRI phenotypes can be used to diagnose known disorders and to identify novel disorders. The MRI phenotypes are based on selective vulnerability of brain structures and parts of structures for different adverse influences. Similarities in MRI phenotypes may reflect similarities in basic defects or pathophysiological mechanisms.