Extended Data Figure 9: Patients with ECD.
From: A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease
a, Table summarizing observed pathological and molecular findings in brain tissue of three patients with ECD with neurologic presentations. BRAF status was determined by immunohistochemical analysis and by sequencing. Neuronal loss and demyelination was determined by immunohistochemistry of neurofilament and myelin basic protein (MBP). RF, Rosenthal fibre. n/a, not applicable/no tissue available for further analysis. b, Immunohistochemistry and immmunofluorescence analysis of brain tissue from a patient with ECD for CD163, pERK and BRAF(V600E) (anti-BRAF-VE1 antibody). Scale bars, 200 μm (top) and 5 μm (bottom). c, Immunohistochemistry analysis of brain tissue from a patient with ECD for neurofilament and MBP shows areas of myelin deficits with preserved axons in the same region. Scale bar, 200 μm.
