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
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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
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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
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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
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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
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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 +4 more
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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
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Cortical and Striatal Functional Connectivity in Juvenile-Onset Huntington’s Disease [PDF]
Brain SciencesBackground: 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
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Preliminary observations of glucose metabolism dysregulation in pediatric Huntington’s disease [PDF]
Frontiers in NeurologyBackgroundPediatric 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 +9 more
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Ghosts From the Past: A Juvenile Onset Huntington's Disease Case From Bahrain [PDF]
BJPsych OpenAims Huntington’s disease (HD) is a rare inherited disease in an autosomal dominant pattern, that is most prevalent among Caucasians. Juvenile onset Huntington disease (JHD) is a rare subtype of the disease, defined by presence of the disease by the age
Hanan Husain +2 more
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