Corticostriatal maldevelopment in the R6/2 mouse model of juvenile Huntington's disease
Neurobiology of DiseaseThere is a growing consensus that brain development in Huntington's disease (HD) is abnormal, leading to the idea that HD is not only a neurodegenerative but also a neurodevelopmental disorder.
Carlos Cepeda +7 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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Stem Cell Research, 2018 Juvenile Onset Huntington's Disease (JOHD) is a rare variant of HD withage of onset ≤20 years, accounting for 3–10% of all HD patients. The rarity occurrence of JOHD cases, who severely progress towards mental and physical disability with atypical ...
Giovannina Rotundo +12 more
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Juvenile‐onset Huntington's disease – Spectrum and evolution of presenting movement disorders [PDF]
Annals of Clinical and Translational NeurologyJuvenile‐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 +6 more
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The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients [PDF]
Scientific Reports, 2017 We have previously shown that exon 1 of the huntingtin gene does not always splice to exon 2 resulting in the production of a small polyadenylated mRNA (HTTexon1) that encodes the highly pathogenic exon 1 HTT protein.
Andreas Neueder +7 more
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STIM2 Mediates Excessive Store-Operated Calcium Entry in Patient-Specific iPSC-Derived Neurons Modeling a Juvenile Form of Huntington's Disease [PDF]
Frontiers in Cell and Developmental Biology, 2021 Huntington's disease (HD) is a severe autosomal-dominant neurodegenerative disorder caused by a mutation within a gene, encoding huntingtin protein. Here we have used the induced pluripotent stem cell technology to produce patient-specific terminally ...
Vladimir A. Vigont +17 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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Juvenile Huntington's disease confirmed by genetic examination in twins Doença de Huntington juvenil confirmada por exame genético em gêmeas [PDF]
Arquivos de Neuro-Psiquiatria, 1999 Early-onset Huntington's disease (HD) occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, mini-mental state examination, blood laboratory exams ...
GILBERTO LEVY +4 more
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Juvenile Huntington's Disease: A Case Report and a Review of Diagnostic Challenges. [PDF]
Cureus, 2023 Juvenile Huntington’s Disease (JHD) is a rare variant of the hereditary neurodegenerative disorder Huntington’s disease (HD). Clinical symptoms in JHD are broad and non-specific, making the initial diagnosis difficult. In this report, we describe a young
Yu SY, Gough S, Niyibizi A, Sheikh M.
europepmc +2 more sources