What treatments are available for single-gene disorders associated with high risk of stroke?
Specific treatments are needed for several single-gene disorders associated with high risk of stroke, including mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, cathepsin-A related arteriopathy with strokes and leukoencephalopathy, retinal vasculopathy with cerebral leukodystrophy, and cases of pathogenic mutations in the COL4A1/COL4A2 genes. For patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, prospective multicenter single-arm studies suggest that oral l-arginine may extend the interictal phase of stroke-like spells and intravenous l-arginine may improve headache, nausea/vomiting, impaired consciousness, and visual disturbances.