MRI findings in juvenile Huntington's disease [PDF]
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 +4 more
doaj +4 more sources
Case report: Cerebellar sparing in juvenile Huntington's disease [PDF]
Frontiers in Neurology, 2023 Juvenile Huntington's disease is an early-onset variant of Huntington's disease, generally associated with large CAG repeats and distinct clinical symptoms. The role of the cerebellum in Huntington's disease has been reevaluated, based on the presence of
Bruno Lopes Santos-Lobato +3 more
doaj +2 more sources
Juvenile Huntington’s disease masquerading as progressive myoclonus epilepsy [PDF]
Epilepsy & Behavior Reports, 2021 Juvenile Huntington’s disease (JHD) has an onset before 20 years of age, and is characterized by behavioural issues, epilepsy, rigidity, bradykinesia and dystonia. It contributes to 0.5–5% of all Huntington disease (HD) cases.
Bina Thakor +2 more
doaj +2 more sources
Juvenile Huntington’s disease: two case reports and a review of the literature [PDF]
Journal of Medical Case Reports, 2020 Background Huntington’s disease is a rare, autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Usually, the disease symptoms first appear around the age of 40, but in 5–10% of cases, they manifest ...
Sigita Lesinskienė +5 more
doaj +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 +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 +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 +3 more
doaj +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 +4 more
doaj +2 more sources
Economic Cost of Current and Alternative Models of Multidisciplinary Care of Juvenile-Onset Huntington's Disease. [PDF]
Mov Disord Clin PractAbstract Background Multidisciplinary care has been advocated for Juvenile‐onset Huntington's Disease but there has been no detailed analysis of this. Objectives To evaluate the current economic costs of providing health care for patients with Juvenile‐onset Huntington's disease (JoHD) and to model the effects and economic costs of providing a ...
Young TA +5 more
europepmc +2 more sources
In Vivo Mapping of Catecholaminergic Loss and Iron Deposition in Huntington's Disease. [PDF]
Mov DisordAbstract Background The pathophysiology of Huntington's disease (HD) remains obscure. Magnetic resonance imaging (MRI) can reveal in vivo molecular changes related to disease pathology. Objectives To investigate catecholaminergic neuronal integrity and subcortical brain iron accumulation in HD employing neuromelanin‐sensitive MRI, and quantitative ...
de Natale ER +11 more
europepmc +2 more sources