Results 1 to 10 of about 7,367 (106)

Preliminary observations of glucose metabolism dysregulation in pediatric Huntington’s disease [PDF]

Frontiers in Neurology
BackgroundPediatric Huntington’s disease (PHD), a rare and severe form of juvenile-onset Huntington’s disease (JOHD), is associated with highly expanded CAG repeats in the HTT gene and a rapidly progressive neurodegenerative course.
Federica Graziola, Federica Rachele Danti, Martina Penzo, Antonio Spagarino, Eleonora Minacapilli, Marco Moscatelli, Federica Zibordi, Caterina Mariotti, Giovanna Zorzi, Giovanna Zorzi   +9 more
doaj   +2 more sources

MRI findings in juvenile Huntington's disease

Radiology Case Reports, 2021
Juvenile Huntington's disease is a rare neurodegenerative disorder that first affects the basal ganglia. Presented here is a case of juvenile Huntington's disease in an 8-year-old male. Clinical features included epilepsy and developmental delay. Imaging
Patrick Arraj, BS, Kyle Robbins, BS, Lauren Dengle Sanchez, MD, Daniel L. Veltkamp, MD, Cory M. Pfeifer, MD, MPH   +4 more
doaj   +1 more source

Clinical Manifestation of Juvenile and Pediatric HD Patients: A Retrospective Case Series

Brain Sciences, 2020
Background: Studies on the clinical manifestation and course of disease in children suffering from Huntington’s disease (HD) are rare. Case reports of juvenile HD (onset ≤ 20 years) describe heterogeneous motoric and non-motoric symptoms, often ...
Jannis Achenbach, Charlotte Thiels, Thomas Lücke, Carsten Saft   +3 more
doaj   +1 more source

Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children

Brain Sciences, 2020
Objective: To investigate the reasons for the diagnostic delay of juvenile Huntington’s disease patients in the Netherlands. Methods: This study uses interpretative phenomenological analysis.
Mayke Oosterloo, Emilia K. Bijlsma, Christine de Die-Smulders, Raymund A.C. Roos   +3 more
doaj   +1 more source

Considering a neuropsychiatric obsessive–compulsive phenotype

European Psychiatry, 2023
Introduction Up to 30% of individuals with obsessive-compulsive disorder (OCD) present with a current or past history of tics. Simultaneously, OCD is one of the most frequent psychiatric comorbidities in patients with primary tic disorders (TD), such as
M. Pinho, D. O. Martins, P. S. Martins, L. Gomes, S. Carvalho   +4 more
doaj   +1 more source

Palliative care in advanced Huntington’s disease: a scoping review

BMC Palliative Care, 2023
Background As Huntington’s disease (HD) is a progressive disease for which there is no cure yet, patients in the advanced stage of HD may benefit from palliative care.
Dorine J. Boersema-Wijma, Erik van Duijn, Anne-Wil Heemskerk, Jenny T. van der Steen, Wilco P. Achterberg   +4 more
doaj   +1 more source

4472 Plasma Neurofilament Light as a Biomarker for Pediatric Patients with Huntington’s Disease

Journal of Clinical and Translational Science, 2020
OBJECTIVES/GOALS: The goal of this study is to compare plasma neurofilament light (NfL) concentrations in asymptomatic children and young adults that carry the gene expansion (GE group) that causes Huntington’s Disease to similar subjects that do not ...
Jordan L Schultz
doaj   +1 more source

Behavioral Deficits in Juvenile Onset Huntington’s Disease

Brain Sciences, 2020
Reports of behavioral disturbance in Juvenile-Onset Huntington’s Disease (JOHD) have been based primarily on qualitative caregiver reports or retrospective medical record reviews.
Kathleen E. Langbehn, Ashley M. Cochran, Ellen van der Plas, Amy L. Conrad, Eric Epping, Erin Martin, Patricia Espe-Pfeifer, Peg Nopoulos   +7 more
doaj   +1 more source

Behavioral features in child and adolescent huntingtin gene‐mutation carriers

Brain and Behavior, 2022
Introduction We compared neuropsychiatric symptoms between child and adolescent huntingtin gene‐mutation carriers and noncarriers. Given previous evidence of atypical striatal development in carriers, we also assessed the relationship between ...
Erin E. Reasoner, Ellen van derPlas, Hend M. Al‐Kaylani, Douglas R. Langbehn, Amy L. Conrad, Jordan L. Schultz, Eric A. Epping, Vincent A. Magnotta, Peggy C. Nopoulos   +8 more
doaj   +1 more source

Klotho pathways, myelination disorders, neurodegenerative diseases, and epigenetic drugs [PDF]

, 2020
In this review we outline a rationale for identifying neuroprotectants aimed at inducing endogenous Klotho activity and expression, which is epigenetic action, by definition. Such an approach should promote remyelination and/or stimulate myelin repair by
Chen, Xiaohong, Faller, Douglas V., Glavas, Ioannis P., Harpp, David N., Kanara, Iphigenia, Kodukula, Krishna, Mavrakis, Anastasios N., Moos, Walter H., Pernokas, Julie, Pernokas, Mark, Pinkert, Carl A., Powers, Whitney R., Sampani, Konstantina, Steliou, Kosta, Vavvas, Demetrios G., Zamboni, Robert J.   +15 more
core   +1 more source