Two things came to mind from reading the report by Jessica Simon and associates,1 which thoroughly documents the cause of cognitive decline, seizure and stroke in a 52-year-old man as a rare genetic variation. My questions are inspired in part by the negative family history and the necessary supposition of de novo mutation. Was the patient tested for elevation of homocysteine? This marker is associated with genetically caused deficiencies of vitamins B6 and B12 and folic acid, the condition we associate with McCully, from his extensive studies on children with homocystinuria.2,3 Multiple strokes because of premature, extensive vascular disease resembling arteriosclerosis were noted throughout the body tissues of those children. In addition, the early, progressive cognitive decline seen in the patient described by Simon and associates1 closely resembles the cognitive decline we are seeing as a previously unrecognized side effect of statin therapy.4,5 Was this patient receiving any statin drugs?
Duane E. Graveline Physician Former NASA astronaut Merritt Island, Fla.
Footnotes
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Competing interests: None declared.
References
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