Results 1 to 10 of about 6,599 (122)

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

Brain Sciences, 2020
[...]
Peg C. Nopoulos
doaj   +2 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   +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   +2 more sources

The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s Disease [PDF]

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, Amelia D. Moser, Peg C. Nopoulos   +2 more
doaj   +2 more sources

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, Jordan L. Schultz, Ansley J. Kunnath, Joel E. Bruss, Eric A. Epping, Vincent A. Magnotta, Peg C. Nopoulos   +6 more
doaj   +2 more sources

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, Christian Landles, Rhia Ghosh, David Howland, Richard H. Myers, Richard L. M. Faull, Sarah J. Tabrizi, Gillian P. Bates   +7 more
doaj   +2 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

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

Ghosts From the Past: A Juvenile Onset Huntington's Disease Case From Bahrain [PDF]

BJPsych Open
Aims 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, Shaima Bucheeri, Feras Alsaif   +2 more
doaj   +2 more sources

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, Bruno Lopes Santos-Lobato, Jéssica Santos de Souza Rocha, Luciano Chaves Rocha   +3 more
doaj   +1 more source