Results 11 to 20 of about 83,749 (165)

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 ...
Quarrell OW, Nance MA, Nopoulos P, Paulsen JS, Smith JA, Squitieri F.   +5 more
europepmc   +2 more sources

Juvenile Huntington's Disease Skin Fibroblasts Respond with Elevated Parkin Level and Increased Proteasome Activity as a Potential Mechanism to Counterbalance the Pathological Consequences of Mutant Huntingtin Protein. [PDF]

Int J Mol Sci, 2019
Huntington’s disease (HD) is an inherited neurodegenerative disorder, caused by an abnormal polyglutamine (polyQ) expansion in the huntingtin protein (Htt).
Aladdin A, Király R, Boto P, Regdon Z, Tar K.   +4 more
europepmc   +2 more sources

MRI findings in juvenile Huntington's disease

Radiology Case Reports, 2021
Juvenile Huntington's disease is a rare neurodegenerative disorder that first affects the basal ganglia. Presented here is a case of juvenile Huntington's disease in an 8-year-old male. Clinical features included epilepsy and developmental delay. Imaging
Patrick Arraj, BS, Kyle Robbins, BS, Lauren Dengle Sanchez, MD, Daniel L. Veltkamp, MD, Cory M. Pfeifer, MD, MPH   +4 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

The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across Europe [PDF]

European Journal of Human Genetics, 2013
The study reported here presents a detailed description of what it is like to parent a child with juvenile Huntington’s disease in families across four European countries. Its primary aim was to develop and extend findings from a previous UK study.
Aad Tibben, Bernhard Landwehrmeyer, C Dancyger, CE Levers, Christine Eiser, EA Earle, EA Earle, ET Gendlin, Ferdinando Squitieri, G Bruyn, G Nicolas, G Ronen, Helen Santini, HM Brewer, HM Brewer, HM Brewer, HM Brewer, I Epstein, JA Smith, JA Smith, JA Smith, Jonathan A Smith, Katie Lee Weille, M Dixon-Woods, M Orth, M Rawlins, MA Nance, Maria Rakowicz, Marie-Louise Goller, Martina Petrollini, Matteo Paduanello, MJ Novak, O Quarrell, Oliver Quarrell, P Lagerlove, P Ribbai, PJ Morrison, RA Barker, S Michie, T Hoppitt, Virginia Eatough, Wioletta Krysa, ‘Annunziata’ de Nicola   +42 more
core   +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

Corticostriatal maldevelopment in the R6/2 mouse model of juvenile Huntington's disease

Neurobiology of Disease
There is a growing consensus that brain development in Huntington's disease (HD) is abnormal, leading to the idea that HD is not only a neurodegenerative but also a neurodevelopmental disorder.
Carlos Cepeda, Sandra M. Holley, Joshua Barry, Katerina D. Oikonomou, Vannah-Wila Yazon, Allison Peng, Deneen Argueta, Michael S. Levine   +7 more
doaj   +2 more sources

Juvenile Huntington's disease: a clinical case from a pediatric's practice

Клинический разбор в общей медицине, 2023
Background. Huntington's disease (Hd) is a hereditary neurodegenerative disease with an autosomal dominant type of inheritance and manifested by motor, behavioral and mental disorders.
Emilia E. Alieva, Polina A. Klishina, Bella O. Matsukatova, Alfiya I. Aminova   +3 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