Reply regarding lesional perfusion abnormalities on arterial spin labeling in Leigh disease
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We thank Drs. Finsterer and Zarrouk-Mahjoub  for their interest in our article , and we welcome the opportunity to provide clarification. The authors raised questions and concerns as to diagnostic criteria, associations between genetic defects and perfusion changes, and external factors that may alter brain blood flow such as seizures, strokes, anesthetics and other medications . Herein, we contribute to the comments regarding our recent report and discuss the context of our findings.
It is well known that Leigh disease can be a phenotype of several different genetic defects . While many specific causitive gene mutations have been firmly established, some are of less certain pathogenicity, ranging to include “variants of unknown clinical significance.” We retrospectively identified and analyzed 15 brain MR exams from 8 subjects with clinically, radiographically and genetically confirmed Leigh disease . All patients met clinical dignostic criteria for Leigh...
KeywordsArterial Spin Label Brain Perfusion Perfusion Change Encephalomalacia Leigh Disease
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