14800-DvRappard

33 Metachromatic leukodystrophy: disease spectrum and approaches for treatment 2 Figure 2. Axial T2-weighted (A, B, D, E, G, H) and sagittal T1-weighted (C, F, I) MR images of three patients with MLD. (A-C): 2-year-old patient with late-infantile MLD. Involvement of the periventricular white matter and centrum semiovale with parietooccipital predominance and involvement of the splenium. U fibers are spared. (D-F): 7-year-old patient with juvenile MLD. (F) shows the typical pattern of radiating stripes with bands of normal signal intensity in between. U fibers are spared. (G-I): 28-year-old patient with adult MLD. In addition to the white matter signal abnormalities with frontal predominance, there is mild supratentorial atrophy (G, H). Mutation analysis is becoming an increasingly important tool in diagnosing MLD. Over 150 mutations have been reported in the ARSA gene. Two mutations occur more frequently; one is the 459+1G>A splice-site mutation which is associated with late- infantile onset, the other one is the p.Pro426Leu missense mutation frequently found in the adult form. 19