Alpha 2.0
Login Register
» Articles » PMID: 7494400

Neuropsychological Outcomes of Several Storage Diseases with and Without Bone Marrow Transplantation

Overview
Journal J Inherit Metab Dis
Publisher Wiley
Date 1995 Jan 1
PMID 7494400
Citations 67
Authors
E G Shapiro
L A Lockman
M Balthazor
W Krivit
Affiliations
Soon will be listed here.
Abstract

Neuropsychological assessment is essential in providing documentation of the untreated natural history of storage diseases associated with dementia and quantifying the effectiveness of treatment on central nervous system function. Baseline characterization and outcome of bone marrow transplantation (BMT) for three leukodystrophies and three mucopolysaccharidoses are presented. Results suggests that BMT for Hurler syndrome, adrenoleukodystrophy, and globoid cell leukodystrophy can be effective in preventing dementia if done early enough in the disease. Sanfilippo and Hunter syndromes do not benefit and BMT is not recommended. For metachromatic leukodystrophy, BMT is not recommended for symptomatic 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.

Citing Articles

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.

Pillai N, Liu N, Li X, Li X, Ahrens-Nicklas R, Adang L Commun Med (Lond). 2025; 5(1):12.

PMID: 39789203 PMC: 11718225. DOI: 10.1038/s43856-024-00703-8.

Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy.

Ago Y, Rintz E, Musini K, Ma Z, Tomatsu S Int J Mol Sci. 2024; 25(2).

PMID: 38256186 PMC: 10816168. DOI: 10.3390/ijms25021113.

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses.

Carvalho S, Santos J, Moreira L, Goncalves M, David H, Matos L Biomedicines. 2023; 11(4).

PMID: 37189853 PMC: 10135551. DOI: 10.3390/biomedicines11041234.

Impact of the COVID-19 pandemic on the well-being of preschoolers: A parental guide.

Khera G, Chandrika Yelisetty R, Spence G, AlAhbabi W, Dadzie V Heliyon. 2023; 9(4):e14332.

PMID: 36974319 PMC: 10028354. DOI: 10.1016/j.heliyon.2023.e14332.

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening.

Pierpont E, Isaia A, McCoy E, Brown S, Gupta A, Eisengart J J Inherit Metab Dis. 2022; 46(2):174-193.

PMID: 36527290 PMC: 10030096. DOI: 10.1002/jimd.12581.

References
1.
Shapiro E, Lipton M, Krivit W . White matter dysfunction and its neuropsychological correlates: a longitudinal study of a case of metachromatic leukodystrophy treated with bone marrow transplant. J Clin Exp Neuropsychol. 1992; 14(4):610-24. DOI: 10.1080/01688639208402848. View
2.
Pridjian G, Humbert J, Willis J, Shapira E . Presymptomatic late-infantile metachromatic leukodystrophy treated with bone marrow transplantation. J Pediatr. 1994; 125(5 Pt 1):755-8. DOI: 10.1016/s0022-3476(94)70072-9. View
3.
Shapiro E, Lockman L, Knopman D, Krivit W . Characteristics of the dementia in late-onset metachromatic leukodystrophy. Neurology. 1994; 44(4):662-5. DOI: 10.1212/wnl.44.4.662. View
4.
Krivit W, Shapiro E, Kennedy W, Lipton M, Lockman L, Smith S . Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation. N Engl J Med. 1990; 322(1):28-32. DOI: 10.1056/NEJM199001043220106. View
5.
Whitley C, Belani K, Chang P, Summers C, Blazar B, Tsai M . Long-term outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet. 1993; 46(2):209-18. DOI: 10.1002/ajmg.1320460222. View