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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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
doaj +2 more sources
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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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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Анналы клинической и экспериментальной неврологии, 2017 Juvenile Huntingtons disease (JHD) manifests in 1st2nddecades of life and accounts for 29% of all cases ofHuntingtons disease; its pathogenic mechanisms are related togenetic anticipation and imprinting.
G. E. Rudenskaya +5 more
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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
doaj +1 more source
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
doaj +1 more source