First symptoms predict disease progression in Metachromatic Leukodystrophy
The type of first symptoms experienced and age at onset in patients with Metachromatic Leukodystrophy (MLD) predicts the rate of disease progression, according to a study in Neurology.
In this study, 97 patients with late-infantile (LI, onset ≤ 2.5 years), early-juvenile (EJ, onset 2.6 – < 6 years), late-juvenile (LJ, onset 6 – < 16 years), and adult (onset ≥ 16 years) forms of MLD were included.
Rapid disease progression starting with motor symptoms was exhibited in patients with LI (n = 35) and EJ (n = 18) MLD. In patients with LJ (n = 38) and adult-onset (n = 6) MLD, when motor symptoms were present at disease onset, the course of the disease was as rapid as in the early-onset forms. When these patients only experienced cognitive symptoms at disease onset, there was significantly milder disease progression, independent of their age at onset.
A certain genotype-phenotype correlation was observed.
Kehrer C, Elgun S, Raabe C, et al. Association of age at onset and first symptoms with disease progression in patients with metachromatic leukodystrophy. Neurol. 2020; DOI: https://doi.org/10.1212/WNL.0000000000011047