Subcortical T1-Rho MRI Abnormalities in Juvenile-Onset Huntington’s Disease [PDF]
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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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
doaj +2 more sources
Adeno-Associated Viral Vector Serotype DJ-Mediated Overexpression of N171-82Q-Mutant Huntingtin in the Striatum of Juvenile Mice Is a New Model for Huntington’s Disease [PDF]
Frontiers in Cellular Neuroscience, 2018 Huntington’s disease (HD) is an autosomal-dominant inherited neurodegenerative disorder characterized by motor, psychiatric and cognitive symptoms. HD is caused by an expansion of CAG repeats in the huntingtin (HTT) gene in various areas of the brain ...
Minhee Jang +3 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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Intrathecal baclofen pump for severe hypertonia in a patient with juvenile Huntington's disease: illustrative case. [PDF]
J Neurosurg Case LessonsWinston GM +3 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
B. L. Santos-Lobato +2 more
semanticscholar +1 more source
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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Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease [PDF]
Journal of Movement Disorders, 2011 Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene.
Dong-Seok Oh +5 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
doaj +1 more source
Biomolecules, 2022 Cranial radiation therapy is one of the most effective treatments for childhood brain cancers. Despite the ameliorated survival rate of juvenile patients, radiation exposure-induced brain neurogenic region injury could markedly impair patients’ cognitive
Dong Liang +6 more
doaj +1 more source