Results 161 to 170 of about 83,768 (184)

Dysregulation of Human Juvenile Huntington’s Disease Brain Proteomes in Cortex and Putamen Involves Mitochondrial and Neuropeptide Systems

Journal of Huntington's Disease, 2023
Background: Huntington’s disease (HD) is a genetic neurodegenerative disease caused by trinucleotide repeat CAG expansions in the human HTT gene. Early onset juvenile HD (JHD) in children is the most severe form of the disease caused by high CAG repeat ...
Sonia Podvin, Charles Mosier, William Poon, Enlin Wei, Leigh-Ana M. Rossitto, Vivian Hook   +5 more
semanticscholar   +1 more source

Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases

American Journal of Medical Genetics. Part A
Extremely early‐onset juvenile Huntington's disease (HD) has been described in three patients with onset at approximately 18 months to 2 years of age. Herein, we report a patient with, to our knowledge, the youngest age of onset with the largest reported
Zoe Powis, Jonathon Lutz, Khalida Liaquat, Jyes Querubin, S. Batish   +4 more
semanticscholar   +1 more source

The Historical and Genetic Evolution of Juvenile Huntington’s Disease

Physiology
It has been 152 years since George Huntington, a 22-year-old medical school graduate, published his first paper about his observations, “On Chorea.” George Huntington may have been young, but as the grandchild of multi-generational hometown doctors, he ...
K. Reilly, L. Lorentzen
semanticscholar   +1 more source

Dysregulation of huntingtin interacting protein networks in human juvenile Huntington's disease brain

Journal of Huntington's Disease
Background Human Huntington's disease (HD) is a genetic neurodegenerative disorder caused by the mutant HTT gene containing CAG repeat expansions, resulting in motor dysfunction and behavioral deficits.
Sonia Podvin, Brin Rosenthal, Charles Mosier, Enlin Wei, Kathleen M Fisch, Vivian Hook   +5 more
semanticscholar   +1 more source

Locomotor Recovery of Juvenile Huntington's Disease Treated by Pallidothalamic Tractotomy

Movement Disorders, 2020
Huntington’s disease (HD) is a neurodegenerative autosomaldominant disorder that is caused by a CAG triplet repeat expansion in the gene for Huntington’s disease. Chorea is a hyperkinetic movement disorder that is a cardinal motor symptom of HD.
S. Horisawa, K. Kitagawa, T. Kawamata, T. Taira   +3 more
semanticscholar   +1 more source

EEG characteristics in juvenile Huntington's disease: a case report and review of the literature.

Epileptic disorders, 2003
The clinical features of Juvenile Huntington's Disease (J-HD) differ from those of the more common adult-onset form, and include cognitive decline, parkinsonism, myoclonus and seizures.
M. Landau, K. Cannard
semanticscholar   +1 more source

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis

Lancet Neurology, 2018
C. Fusilli, S. Migliore, T. Mazza, F. Consoli, A. Luca, Gaetano Barbagallo, A. Ciammola, E. Gatto, M. Cesarini, J. Etcheverry, V. Parisi, Musallam Al-Oraimi, Salma Al-Harrasi, Q. Al-Salmi, M. Marano, J. Vonsattel, U. Sabatini, G. Landwehrmeyer, F. Squitieri   +18 more
semanticscholar   +1 more source