Results 11 to 20 of about 5,067,029 (185)

Clinical Review of Juvenile Huntington’s Disease [PDF]

Journal of Huntington's Disease
 Juvenile Huntington’s disease (JHD) is rare. In the first decade of life speech difficulties, rigidity, and dystonia are common clinical motor symptoms, whereas onset in the second decade motor symptoms may sometimes resemble adult-onset Huntington’s disease (AOHD). Cognitive decline is mostly detected by declining school performances.
Oosterloo, Mayke, Touze, Alexiane, Byrne, Lauren M, Achenbach, Jannis, Aksoy, Hande, Coleman, Annabelle, Lammert, Dawn, Nance, Martha, Nopoulos, Peggy, Reilmann, Ralf, Saft, Carsten, Santini, Helen, Squitieri, Ferdinando, Tabrizi, Sarah, Burgunder, Jean-Marc, Quarrell, Oliver, Pediatric Huntington Disease Working Group of the European Hunti   +16 more
europepmc   +8 more sources

The personal experience of parenting a child with juvenile Huntington's disease: perceptions across Europe. [PDF]

Eur J Hum Genet, 2013
The study reported here presents a detailed description of what it is like to parent a child with juvenile Huntington’s disease in families across four European countries. Its primary aim was to develop and extend findings from a previous UK study.
Eatough V, Santini H, Eiser C, Goller ML, Krysa W, de Nicola ', Paduanello M, Petrollini M, Rakowicz M, Squitieri F, Tibben A, Weille KL, Landwehrmeyer B, Quarrell O, Smith JA.   +14 more
europepmc   +2 more sources

Effect of Immersive Virtual Reality by a Computer Assisted Rehabilitation Environment (CAREN) in Juvenile Huntington’s Disease: A Case Report [PDF]

Medicina, 2022
Various studies have proven the utility of immersive virtual reality (VR) as a complementary approach to conventional neurorehabilitation therapy for improving neuromuscular and cognitive outcomes in several neurological diseases.
Roberta Cellini, Giuseppe Paladina, Giacomo Mascaro, Maria Antonietta Lembo, Antonino Lombardo Facciale, Maria Cristina Ferrera, Bartolo Fonti, Luca Pergolizzi, Piero Buonasera, Placido Bramanti, Emanuela Mazzon   +10 more
doaj   +2 more sources

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

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   +2 more sources

Juvenile Huntington’s Disease and Other PolyQ Diseases, Update on Neurodevelopmental Character and Comparative Bioinformatic Review of Transcriptomic and Proteomic Data [PDF]

Frontiers in Cell and Developmental Biology, 2021
Polyglutamine (PolyQ) diseases are neurodegenerative disorders caused by the CAG repeat expansion mutation in affected genes resulting in toxic proteins containing a long chain of glutamines.
Karolina Świtońska-Kurkowska, Bart Krist, Joanna Delimata, Maciej Figiel   +3 more
doaj   +2 more sources

Evaluating the Validity of Model Organisms: A Review and a New Framework for Biologists [PDF]

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
This article provides an overview on model organisms and proposes a new framework for assessing the extent to which it is justified to generalize the results obtained from a given organism. It covers both studies of human diseases and those focused on general biological processes. The first part of the article is a review on model organisms.
Héloïse Athéa, Nicolas Heck
wiley   +2 more sources

Tics as an initial manifestation of juvenile Huntington’s disease: case report and literature review [PDF]

BMC Neurology, 2017
Background Huntington’s disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical.
Shi-Shuang Cui, Ru-Jing Ren, Ying Wang, Gang Wang, Sheng-Di Chen   +4 more
doaj   +2 more sources

Cortical and Striatal Functional Connectivity in Juvenile-Onset Huntington’s Disease [PDF]

Brain Sciences
Background: Huntington’s disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the HTT gene, with a rare juvenile-onset form (JoHD) marked by early, rigid motor symptoms.
Amy Barry, Peg C. Nopoulos
doaj   +2 more sources

Juvenile‐onset Huntington's disease – Spectrum and evolution of presenting movement disorders [PDF]

Annals of Clinical and Translational Neurology
Juvenile‐onset Huntington's disease (HD) is a rare subset of HD with symptom‐onset before the age of 18. In contrast to the adult population, children present early‐on with behavioral, psychiatric, and cognitive symptoms, in addition to a diverse ...
Kathryn Yang, Vicente Quiroz, Amy Tam, Rasha Srouji, Ximena Villanueva, Claudia Amarales, Darius Ebrahimi‐Fakhari   +6 more
doaj   +2 more sources

Current Pharmacological Management in Juvenile Huntington’s Disease

PLoS Currents, 2012
The clinical presentation of Juvenile Huntington's Disease (JHD) can be very different from adult-onset HD with little evidence to guide symptomatic management.To survey the current use of pharmacological treatments for JHD.Patients were identified through the HD Association, Hospital Doctors and the European Huntington's Disease Network REGISTRY study.
Robertson, Lisa, Santini, Helen, O'Donovan, Kirsty L, Squitieri, Ferdinando, Barker, Roger A, Rakowicz, Maria, Landwehrmeyer, G. Bernhard, Quarrell, Oliver   +7 more
openaire   +3 more sources