The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s Disease
Brain Sciences, 2020 There is a known negative association between cytosine–adenine–guanine (CAG) repeat length and the age of motor onset (AMO) in adult-onset Huntington’s Disease (AOHD).
Jordan L. Schultz +2 more
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Autonomic Changes in Juvenile-Onset Huntington’s Disease
Brain Sciences, 2020 Patients with adult-onset Huntington’s Disease (AOHD) have been found to have dysfunction of the autonomic nervous system that is thought to be secondary to neurodegeneration causing dysfunction of the brain–heart axis. However, this relationship has not
Jordan L. Schultz, Peg C. Nopoulos
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Subcortical T1-Rho MRI Abnormalities in Juvenile-Onset Huntington’s Disease
Brain Sciences, 2020 Huntington’s disease (HD) is a fatal neurodegenerative disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the huntingtin gene. An increased CAG repeat length is associated with an earlier disease onset.
Alexander V. Tereshchenko +6 more
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Case report: Cerebellar sparing in juvenile Huntington's disease
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
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Special Issue: Juvenile Onset Huntington’s Disease
Brain Sciences, 2020 [...]
Peg C. Nopoulos
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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 +7 more
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Juvenile Huntington’s disease: two case reports and a review of the literature
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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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 +3 more
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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 +3 more
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Juvenile Huntington's disease: a clinical case from a pediatric's practice
Клинический разбор в общей медицине, 2023 Background. Huntington's disease (Hd) is a hereditary neurodegenerative disease with an autosomal dominant type of inheritance and manifested by motor, behavioral and mental disorders.
Emilia E. Alieva +3 more
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