NEUROPSYCHOLOGICAL OUTCOMES OF SEVERAL STORAGE DISEASES WITH AND WITHOUT BONE-MARROW TRANSPLANTATION

Neuropsychological assessment is essential in providing documentation of the untreated natural history of storage diseases associated with d ementia and quantifying the effectiveness of treatment on central nerv ous system function. Baseline characterization and outcome of bone mar row transplantation (BMT) for three leukodystrophies and three mucopol ysaccharidoses are presented. Results suggests that BMT for Hurler syn drome, adrenoleukodystrophy, and globoid cell leukodystrophy can be ef fective in preventing dementia if done early enough in the disease. Sa nfilippo and Hunter syndromes do not benefit and BMT is not recommende d. For metachromatic leukodystrophy, BMT is not recommended for sympto matic early-onset forms of the disease. Further longitudinal follow-up is needed to determine whether the benefits outweigh the risks of BMT for late-onset and preclinical metachromatic leukodystrophy.