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Juvenile Huntington’s disease

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, D. A. Savvin, V. P. Fedotov, S. A. Kurbatov, A. V. Polyakov, N. M. Galeeva   +5 more
doaj   +2 more sources

Autonomic Changes in Juvenile-Onset Huntington’s Disease [PDF]

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
doaj   +3 more sources

Special Issue: Juvenile Onset Huntington’s Disease [PDF]

Brain Sciences, 2020
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Peg C. Nopoulos
doaj   +3 more sources

Behavioral Deficits in Juvenile Onset Huntington’s Disease [PDF]

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, Ashley M. Cochran, Ellen van der Plas, Amy L. Conrad, Eric Epping, Erin Martin, Patricia Espe-Pfeifer, Peg Nopoulos   +7 more
doaj   +3 more sources

Cortical and Striatal Functional Connectivity in Juvenile-Onset Huntington’s Disease [PDF]

Brain Sciences
Background: 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

Juvenile‐onset Huntington's disease – Spectrum and evolution of presenting movement disorders [PDF]

Annals of Clinical and Translational Neurology
Juvenile‐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, Vicente Quiroz, Amy Tam, Rasha Srouji, Ximena Villanueva, Claudia Amarales, Darius Ebrahimi‐Fakhari   +6 more
doaj   +2 more sources

Preliminary observations of glucose metabolism dysregulation in pediatric Huntington’s disease [PDF]

Frontiers in Neurology
BackgroundPediatric 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, Federica Rachele Danti, Martina Penzo, Antonio Spagarino, Eleonora Minacapilli, Marco Moscatelli, Federica Zibordi, Caterina Mariotti, Giovanna Zorzi, Giovanna Zorzi   +9 more
doaj   +2 more sources

Clinical Review of Juvenile Huntington's Disease. [PDF]

J Huntingtons Dis
 Juvenile Huntington’s disease (JHD) is rare. In the first decade of life speech difficulties, rigidity, and dystonia are common clinical motor symptoms, whereas onset in the second decade motor symptoms may sometimes resemble adult-onset Huntington’s disease (AOHD). Cognitive decline is mostly detected by declining school performances.
Oosterloo M, Touze A, Byrne LM, Achenbach J, Aksoy H, Coleman A, Lammert D, Nance M, Nopoulos P, Reilmann R, Saft C, Santini H, Squitieri F, Tabrizi S, Burgunder JM, Quarrell O, Pediatric Huntington Disease Working Group of the European Huntington Disease Network.   +16 more
europepmc   +5 more sources

Managing juvenile Huntington's disease. [PDF]

Neurodegener Dis Manag, 2013
Huntington's disease (HD) is a well-recognized progressive neurodegenerative disorder that follows an autosomal dominant pattern of inheritance. Onset is insidious and can occur at almost any age, but most commonly the diagnosis is made between the ages of 35 and 55 years. Onset ≤20 years of age is classified as juvenile HD (JHD).
Quarrell OW, Nance MA, Nopoulos P, Paulsen JS, Smith JA, Squitieri F.   +5 more
europepmc   +4 more sources

Generation of two human iPSC lines from dermal fibroblasts of adult- and juvenile-onset Huntington's disease patients and two healthy donors

Stem Cell Research, 2023
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a mutation in the HTT gene. To generate human-induced pluripotent stem cells (hiPSCs), we used dermal fibroblasts from 1 healthy adult control (K-Pic2), 1 HD manifest ...
Marta Piechota, Ewelina Latoszek, Ewa Liszewska, Hana Hansíková, Jiří Klempíř, Alžbeta Mühlbäck, Georg Bernhard Landwehrmeyer, Jacek Kuźnicki, Magdalena Czeredys   +8 more
doaj   +1 more source