Leukodystrophy Center

ALD Publications


Pierpont EI, McCoy E, King KE, et al. Post-transplant adaptive function in childhood cerebral adrenoleukodystrophy. Ann Clin Transl Neurol. 2018;5(3):252-261.


Pierpont EI, Eisengart JB, Shanley R, et al. Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy. JAMA Neurol. 2017;74(6):710-717.

Eichler F, Duncan C, Musolino PL, et al. Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2017;377(17):1630-1638.

Beckmann NB, Miller WP, Dietrich MS, Orchard PJ. Quality of life among boys with adrenoleukodystrophy following hematopoietic stem cell transplant. Child Neuropsychol. 2017:1-13.


Miller WP, Mantovani LF, Muzic J, et al. Intensity of MRI Gadolinium Enhancement in Cerebral Adrenoleukodystrophy: A Biomarker for Inflammation and Predictor of Outcome following Transplantation in Higher Risk Patients. AJNR Am J Neuroradiol. 2016;37(2):367-372.


Kartha RV, Zhou J, Basso L, Schroder H, Orchard PJ, Cloyd J. Mechanisms of Antioxidant Induction with High-Dose N-Acetylcysteine in Childhood Cerebral Adrenoleukodystrophy. CNS Drugs. 2015;29(12):1041-1047.


McKinney AM, Nascene D, Miller WP, et al. Childhood cerebral X-linked adrenoleukodystrophy: diffusion tensor imaging measurements for prediction of clinical outcome after hematopoietic stem cell transplantation. AJNR Am J Neuroradiol. 2013;34(3):641-649.


Thibert KA, Raymond GV, Nascene DR, et al. Cerebrospinal fluid matrix metalloproteinases are elevated in cerebral adrenoleukodystrophy and correlate with MRI severity and neurologic dysfunction. PLoS One. 2012;7(11):e50430.

Petryk A, Polgreen LE, Chahla S, Miller W, Orchard PJ. No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy. Bone Marrow Transplant. 2012;47(10):1377-1378.

Lund TC, Stadem PS, Panoskaltsis-Mortari A, et al. Elevated cerebral spinal fluid cytokine levels in boys with cerebral adrenoleukodystrophy correlates with MRI severity. PLoS One. 2012;7(2):e32218.


Polgreen LE, Chahla S, Miller W, et al. Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes. Eur J Pediatr. 2011;170(8):1049-1054.

Orchard PJ, Lund T, Miller W, et al. Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy. J Neuroinflammation. 2011;8:144.

Miller WP, Rothman SM, Nascene D, et al. Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report. Blood. 2011;118(7):1971-1978.


Orchard PJ, Tolar J. Transplant outcomes in leukodystrophies. Semin Hematol. 2010;47(1):70-78.