Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Leading experts including Dr. Nicole Wolf, Dr. Geneviève Bernard, and Dr. Adeline Vanderver collaborated on this academic paper from 2014. They describe the clinical presentation and MRI findings of 105 individuals with POLR3A and POLR3B mutations. Read the abstract for a brief overview of the article. The results section contains more detail about combinations of mutations, symptoms related to the nervous system, other clinical differences, and patterns seen on MRI for these patients. Like Goldilocks in the popular fairy tale, you may find the discussion section to have just the right amount of information. The authors summarize the key findings from the study and put them into context.

Wolf, Nicole I et al. “Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.” Neurology vol. 83,21 (2014): 1898-905. doi:10.1212/WNL.0000000000001002

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Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

4H Leukodystrophy Research

4H Leukodystrophy
Research