Abstract
Objective The objective of this study is to systematically review the literature on worldwide
numbers of leukodystrophy patients undergoing hematopoietic stem cell transplantation
(HSCT) as well as the safety and efficacy of the procedure in this patient population.
Materials and Methods A PubMed and EMBASE search up to June 2012 was conducted with a manual search of
references from relevant articles. Selected studies were evaluated using internationally
accepted criteria. The effect estimates of HSCT upon survival in early-stage disease
versus late-stage disease were compared.
Results One hundred and fifty-two studies qualified for inclusion and reported on a total
of 689 patients. Study quality ranged from poor to good; no study was rated excellent. Small sample sizes limited most studies. Meta-analysis
in a subset of larger studies indicates that transplantation in earlier stages of
disease fairs better than in the late stages. Beyond survival, little longitudinal
data on functional outcome is reported and neurological outcome is sparse.
Conclusion Further studies are needed to determine the neurological outcome following HSCT in
the leukodystrophies. HSCT in the early stages of cerebral disease is still recommended
for select leukodystrophies.
Keywords
leukodystrophy - bone marrow transplantation - white matter diseases
