Leukodystrophy Awareness Month
Who discovered Krabbe Disease?
In 1916, neurologist Dr. Knud Krabbe of Denmark first described infantile Krabbe disease in two siblings with spasticity who died in infancy and were found to have “diffuse sclerosis” of the brain. Also in 1916, Krabbe investigated five infants from two families who had dramatic instances of crying and irritability before these were 6 several weeks old. The babies later developed spasms triggered by light, noise and touch. Before the babies were 24 months old, all of the infants died. Krabbe specified cells within the brain missing proper enzymes (GALC enzyme mentioned in previous "facts"), and therefore the disease was named after him.