Results 181 to 190 of about 91,965 (229)

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

Lancet Neurology, 2018
BACKGROUND Huntington's disease is a rare, neurodegenerative disease caused by an expanded CAG repeat mutation in the huntingtin gene. Compared with adult-onset Huntington's disease, juvenile Huntington's disease (onset ≤20 years) is even rarer and has ...
C. Fusilli, S. Migliore, T. Mazza, F. Consoli, Alessandro De 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

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
Zöe Powis, Jonathon Lutz, Khalida Liaquat, Jyes Querubin, Sat Dev Batish   +4 more
openalex   +2 more sources

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

Juvenile Huntington's disease: Does a dosage-effect pathogenic mechanism differ from the classical adult disease?

Mechanisms of Ageing and Development, 2006
Ferdinando Squitieri, Luigi Frati, Andrea Ciarmiello   +2 more
exaly   +2 more sources

Pallidal deep brain stimulation in juvenile Huntington's disease: local field potential oscillations and clinical data

Journal of Neurology, 2018
For the Surgical Approaches Working Group of the European Huntington’s Disease Network (EHDN), Stefano Ferrea, Stefan Jun Groiss, Saskia Elben, Christian J. Hartmann, Steve B. Dunnett, Anne Rosser, Carsten Saft, Alfons Schnitzler, Jan Vesper, Lars Wojtecki   +10 more
openalex   +2 more sources

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

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

The Impact of Juvenile Huntington's Disease on the Family

Journal of Health Psychology, 2007
Helen Brewer, Virginia Eatough, Jonathan A. Smith, Cath Stanley, Neil W. Glendinning, Oliver Quarrell   +5 more
openalex   +2 more sources

Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington’s disease

Neurology, 1999
Martha Nance, V. Mathias-Hagen, G. Breningstall, M. Wick, R. C. McGlennen   +4 more
semanticscholar   +1 more source

Juvenile‐Onset Huntington Disease Pathophysiology and Neurodevelopment: A Review

Movement Disorders, 2022
Hannah S Bakels, Willeke M C van Roon-Mom, Susanne T De Bot   +2 more
exaly