Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy
This study compares the clinical findings, MRI features, and genetic mutations of six patients with very severe disease to typical 4H Leukodystrophy. These children first showed signs when they were infants, including feeding and breathing difficulties, and progressed rapidly before their first birthday. Individuals with severe presentations have a specific pattern of findings on MRI. Counterintuitively, they have more myelin (less hypomyelination) than is usually seen, but still too little. six patients also all have a similar combination of genetic mutations in the POLR3A gene. The authors comment on why this combination might cause such a severe form of 4H Leukodystrophy.
Perrier, Stefanie et al. “Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.” Neurology. Genetics vol. 6,3 e425. 11 May. 2020, doi:10.1212/NXG.0000000000000425