Explanipedia

Neurofilament light chain as a prognostic marker in cerebral adrenoleukodystrophy Open

Elizabeth I. Pierpont, Ashish O. Gupta, Julie B. Eisengart, Ryan Shanley, Roni Evans , et al. · 2025

Cerebral adrenoleukodystrophy (C-ALD) is a rapidly progressing inflammatory neurodegenerative disease with unpredictable onset in males with ALD. It must be treated at an early stage of demyelination, determined by MRI, to preserve neuroco…

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome Open

Dante J. Rogers, Rebekah L. Hudock, Adele F. Dimian, Josue E. Collazo‐Lopez, Ryan Shanley , et al. · 2025

Background Challenging behaviours such as self‐injury and aggression are prevalent among individuals with intellectual disability (ID), significantly impacting quality of life. Cardiofaciocutaneous syndrome (CFCS), a rare multisystem genet…

Diffusion Tensor Imaging in Boys With Adrenoleukodystrophy Open

Elizabeth I. Pierpont, René Labounek, Ashish O. Gupta, Troy C. Lund, Paul J. Orchard , et al. · 2024

DTI was sensitive to lesion presence and severity as well as clinical neurocognitive effects of C-ALD. DTI metrics quantify C-ALD even at an early stage.

The <span>8th International RASopathies Symposium</span>: Expanding research and care practice through global collaboration and advocacy Open

Elizabeth I. Pierpont, Anton M. Bennett, Lisa Schoyer, Beth Stronach, April Anschutz , et al. · 2023

Germline pathogenic variants in the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum …

Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti‐seizure medication Open

Daniel Kenney‐Jung, Josue E. Collazo‐Lopez, Dante J. Rogers, Ryan Shanley, Abigail L Zatkalik , et al. · 2023

Treatment‐resistant epilepsy is among the most serious complications of cardiofaciocutaneous syndrome (CFCS), a rare disorder caused by germline variants in the RAS‐MAPK signaling pathway. This study analyzed the clinical characteristics o…

A dimensional approach to neurodevelopmental differences in genetically well‐defined populations: What's next? Open

Elizabeth I. Pierpont · 2023

This commentary is on the original article by Naylor et al. on pages 1520–1529 of this issue.

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

Elizabeth I. Pierpont, Ashley R. Isaia, Erin McCoy, Sarah Brown, Ashish O. Gupta , et al. · 2022

X‐linked adrenoleukodystrophy (ALD) is a rare inherited neurological disorder that poses considerable challenges for clinical management throughout the lifespan. Although males are generally more severely affected than females, the time co…

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype Open

Daniel Kenney‐Jung, Dante J. Rogers, Samuel J. Kroening, Abigail L Zatkalik, Ashley E. Whitmarsh , et al. · 2022

Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serio…

Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy Open

Ashish O. Gupta, Gerald V. Raymond, Elizabeth I. Pierpont, Stephan Kemp, R. Scott McIvor , et al. · 2022

The data regarding this lentiviral-based gene therapy approach and its relative risks and benefits is still being evaluated. This information is explored in the context of the experience with allogeneic HSCT for cerebral ALD.

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study Open

Elizabeth I. Pierpont, Daniel Kenney‐Jung, Ryan Shanley, Abigail L Zatkalik, Ashley E. Whitmarsh , et al. · 2022

Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy Open

Rebecca Wiersma, Ashish O. Gupta, Troy C. Lund, Kyriakie Sarafoglou, Elizabeth I. Pierpont , et al. · 2022

Primary adrenal insufficiency (PAI) is often the first clinical sign of X-linked adrenoleukodystrophy (X-ALD), a rare genetic disorder that can present with various clinical phenotypes. A subset of boys with X-ALD develop cerebral ALD (cAL…

The seventh international <span>RASopathies</span> symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery Open

Maria Kontaridis, Amy E. Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach , et al. · 2022

RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen‐activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these…

Social behavior in RASopathies and idiopathic autism Open

Allison M. H. Foy, Rebekah L. Hudock, Ryan Shanley, Elizabeth I. Pierpont · 2022

Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophy Open

Ashish O. Gupta, David Nascene, Ryan Shanley, Daniel Kenney‐Jung, Julie B. Eisengart , et al. · 2021

In the most common variant of childhood cerebral adrenoleukodystrophy (cALD), demyelinating brain lesions are distributed predominately in parieto‐occipital white matter. Less frequently, lesions first develop in frontal white matter. This…

24234 Development of a computerized neurocognitive test of interhemispheric transfer for use in pediatric settings Open

Elizabeth I. Pierpont, Kelvin O. Lim, Michael Georgieff, William B. Dobyns, Mónica Luciana , et al. · 2021

IMPACT: As newborn screening is now available for X-linked adrenoleukodystrophy, there is a need to establish meaningful disease markers to detect the onset of the severe demyelinating cerebral form of this disease at the earliest possible…

Impact of pediatric hypophosphatasia on behavioral health and quality of life Open

Elizabeth I. Pierpont, Jill H. Simmons, Katherine J. Spurlock, Ryan Shanley, Kyriakie Sarafoglou · 2021

Neurocognitive benchmarks following transplant for emerging cerebral adrenoleukodystrophy Open

Elizabeth I. Pierpont, David Nascene, Ryan Shanley, Daniel Kenney‐Jung, Richard Ziegler , et al. · 2020

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. …

C-56 Predictors of Social Outcomes for Individuals with RASopathies: A Systematic Literature Review with Implications for Assessment, Intervention and Education Open

Paige Mission, Alison Foy, Elizabeth I. Pierpont · 2019

Objective This review sought to provide a better understanding of the factors that contribute to social functioning outcomes in individuals with these RASopathies (i.e., genetic syndromes caused by disruption to the RAS-MAPK cellular signa…

Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy Open

Paul J. Orchard, Todd W. Markowski, LeeAnn Higgins, Gerald V. Raymond, David Nascene , et al. · 2019

Cerebral adrenoleukodystrophy (cALD) is an inflammatory neurodegenerative disease associated with mutation of the ABCD1 gene. Proteomic analysis of cerebral spinal fluid (CSF) from young males with active cALD revealed markers of inflammat…

A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy Open

Katie M. Wiens, Susan A. Berry, Hyoung Won Choi, Amy Gaviglio, Ashish O. Gupta , et al. · 2019

Minnesota became the fourth state to begin newborn screening (NBS) for X‐linked adrenoleukodystrophy (X‐ALD) in 2017. As there is limited retrospective data available on NBS for X‐ALD, we analyzed Minnesota's NBS results from the first yea…

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes Open

Julie B. Eisengart, Elizabeth I. Pierpont, Alexander Kaizer, Kyle Rudser, Kelly King , et al. · 2019

Variability in neuropsychological functioning in patients with downstream RAS pathway mutations. Poster presented at the 47th Annual Meeting of the International Neuropsychological Society. New York, NY. Open

Alana McNeill, Rebekah L. Hudock, Lorri A. Kais, Mary Ella Pierpont, Elizabeth I. Pierpont · 2019

Objective: Gene mutations within the Ras-mitogen-activated protein kinase (RAS-MAPK) signaling cascade have been associated with multiple genetic syndromes with varying degrees of neurocognitive impairment. Current research has focused on …

Associations Between Medical History, Cognition, and Behavior in Youth With Down Syndrome: A Report From the Down Syndrome Cognition Project Open

Tracie C. Rosser, Jamie O. Edgin, George T. Capone, Debra R. Hamilton, Emily G. Allen , et al. · 2018

The cause of the high degree of variability in cognition and behavior among individuals with Down syndrome (DS) is unknown. We hypothesized that birth defects requiring surgery in the first years of life (congenital heart defects and gastr…

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 Open

Elizabeth I. Pierpont, Rebekah L. Hudock, Allison M. H. Foy, Margaret Semrud‐Clikeman, Mary Ella Pierpont , et al. · 2018

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report Open

Kristen Westenfield, Kyriakie Sarafoglou, Laura C. Speltz, Elizabeth I. Pierpont, Joan Steyermark , et al. · 2018

Post‐transplant adaptive function in childhood cerebral adrenoleukodystrophy Open

Elizabeth I. Pierpont, Erin McCoy, Kelly King, Rich S. Ziegler, Ryan Shanley , et al. · 2018

Objective Hematopoietic stem cell transplantation ( HSCT ) is the only treatment known to slow or halt inflammatory demyelination among boys with the cerebral form of X‐linked adrenoleukodystrophy ( cALD ), a devastating childhood conditio…

Additional file 2: of Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report Open

Kristen Westenfield, Kyriakie Sarafoglou, Laura C. Speltz, Elizabeth I. Pierpont, Joan Steyermark , et al. · 2018

Figure S2. A, B. A. Length growth over time. B. Weight growth over time. (ZIP 65 kb)

The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects Open

Jamie O. Edgin, Payal Anand, Tracie C. Rosser, Elizabeth I. Pierpont, C.F. Figueroa , et al. · 2017

A multisite study investigated the test-retest reliability and practice effects of a battery of assessments to measure neurocognitive function in individuals with Down syndrome (DS). The study aimed to establish the appropriateness of thes…

Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy Open

Elizabeth I. Pierpont, Julie B. Eisengart, Ryan Shanley, David Nascene, Gerald V. Raymond , et al. · 2017

Boys with cALD who have greater than minimal cerebral disease detected on MRI scans at the time of an HSCT are at risk for severe, persistent neurocognitive deficits. These findings motivate further exploration of methods of detecting cere…

Neuropsychological functioning in individuals with Noonan syndrome: A systematic literature review with educational and treatment recommendations. Open

Elizabeth I. Pierpont · 2015

Noonan syndrome (NS) is a relatively common genetic syndrome with variable features including short stature, congenital heart disease, distinctive facial characteristics, skeletal anomalies, and varying degrees of developmental delay. NS i…

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