The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
Neurocognitive benchmarks following transplant for emerging cerebral adrenoleukodystrophy
Open accessAbstract
OBJECTIVE: To quantify benchmark treatment outcomes that may be enabled by newborn screening surveillance for X-linked adrenoleukodystrophy (ALD), we report neurocognitive, neuropsychiatric, and MRI change for boys who underwent hematopoietic stem cell transplant (HSCT) at initial stages of demyelination, prior to neurocognitive signs of disease. METHODS: Retrospective chart review identified 36 patients whose cerebral ALD was detected and treated early, with lesion severity less than 5 on the ALD-specific MRI scoring system. Median age at transplant was 7.3 years (range, 4.0-16.1). Progression of radiologic disease on MRI in the 2 years following HSCT was examined relative to the severity of the initial lesion for 33 patients, and longitudinal neurocognitive and neuropsychiatric outcomes were studied for 30 patients. RESULTS: Patients whose pretransplant lesion extended beyond the splenium of the corpus callosum and adjacent periventricular white matter (MRI severity score >2) demonstrated lower posttransplant neurocognitive scores, more neuropsychiatric symptoms, and more disease progression on MRI than patients with a less severe lesion. Changes from baseline neurocognitive functioning were greater at 2 years posttransplant as compared to 1 year. There was greater variance and risk of lesion progression as pretransplant MRI severity increased. CONCLUSION: To realize the full benefits of newborn screening, clinicians must detect very small demyelinating lesions during surveillance and intervene quickly. Novel interventions that reduce risks inherent in allogeneic transplantation are needed. Trial endpoints should include direct neurocognitive assessment and extend at least 2 years posttreatment to provide the greatest sensitivity to detect neurocognitive morbidity.
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“However, they are useful only as the first signs of abnormalities are noted on magnetic resonance imaging (MRI) of the brain, before the onset of any neurological symptoms.”
From Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1 (2023) · cites this paper as [4]
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“Thus, prompt diagnosis can improve the prognosis of CALD in boys [2,3,4,5,6].”
From Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1 (2023) · cites this paper as [4]
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Fitting Linear Mixed-Effects Models Using lme4
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Self-citationAdrenoleukodystrophy: a scoring method for brain MR observations.
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Self-citationAnalysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy
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Mallack, E. J., Turk, B. R., Yan, H., Price, C., Demetres, M., Moser, A. B., Becker, C., Hollandsworth, K., Adang, L., Vanderver, A., et al. (2021) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12356 · Cited by 79
Self-citationTreatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy
Gupta, A. O., Raymond, G., Pierpont, E. I., Kemp, S., McIvor, R. S., Rayannavar, A., Miller, B., Lund, T. C., & Orchard, P. J. (2022) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2022.2124857 · Cited by 67
“who were identified to have ALD early in life and therefore able to receive treatment when cerebral lesions were quite small (MRI severity score < 5) [38].”
BackgroundSelf-citationMallack, E. J., Gao, K., Engelen, M., & Kemp, S. (2022) · Cells · doi:10.3390/cells11020283 · Cited by 60
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Self-citationPresymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy
Mallack, E. J., van Haren, K. P., Torrey, A. C., van de Stadt, S. I. W., Engelen, M., Raymond, G. V., Fatemi, A. S., & Eichler, F. (2022) · Neurology · doi:10.1212/wnl.0000000000200571 · Cited by 17
Metadata
- Authors
- Pierpont, E. I., Nascene, D. R., Shanley, R., Kenney-Jung, D. L., Ziegler, R. S., Miller, W. P., Gupta, A. O., Lund, T. C., Orchard, P. J., & Eisengart, J. B.
- Affiliations
- University of Minnesota (US)
- From the Departments of Pediatrics (E.I.P., R.S.Z., W.P.M., A.O.G., T.C.L., P.J.O., J.B.E.), Radiology (D.R.N.), Bioinformatics and Biostatistics Core (R.S.), and Neurology (D.L.K.-J.), University of Minnesota, Minneapolis; and Sangamo Therapeutics (W.P.M.), Richmond, CA.
- Corresponding author
- Pierpont, Elizabeth I.
- ORCID
- Venue
- Neurology
- Published
- 2020-08-04
- Volume
- 95
- Issue
- 5
- Pages
- e591-e600
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC7455349
- OpenAlex
- W3039456116
- Cited by
- 21
- References
- 22
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 5 · 2023: 2 · 2022: 4 · 2021: 4 · 2020: 1
- FWCI
- 1.82
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc-nd
- Locations
- Neurology (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (UL1TR002494, KL2TR002492)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Clinical Neurology › Multiple Sclerosis Research Studies
- Keywords
- cerebral adrenoleukodystrophy, X-linked adrenoleukodystrophy, hematopoietic stem cell transplantation, newborn screening, neuropsychological outcomes, neuropsychiatric symptoms, demyelination, splenium of corpus callosum, periventricular white matter, disease progression, clinical trial endpoints
- MeSH terms
- Adolescent, Adrenoleukodystrophy, Child, Child, Preschool, Humans, Infant, Newborn, Magnetic Resonance Imaging, Male, Neonatal Screening, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Benchmarking, Early Diagnosis
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