Results 121 to 130 of about 10,552,439 (323)

Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children

Brain Sciences, 2020
Objective: To investigate the reasons for the diagnostic delay of juvenile Huntington’s disease patients in the Netherlands. Methods: This study uses interpretative phenomenological analysis.
Mayke Oosterloo, Emilia K. Bijlsma, Christine de Die-Smulders, Raymund A.C. Roos   +3 more
doaj   +1 more source

Characterization of Progressive Motor Deficits in Mice Transgenic for the Human Huntington’s Disease Mutation

Journal of Neuroscience, 1999
Transgenic mice expressing exon 1 of the human Huntington’s disease (HD) gene carrying a 141–157 CAG repeat (line R6/2) develop a progressive neurological phenotype with motor symptoms resembling those seen in HD. We have characterized the motor deficits
Rebecca J. Carter, Lisa A Lione, T. Humby, L. Mangiarini, A. Mahal, G. Bates, S. Dunnett, A. Morton, J. Morton   +8 more
semanticscholar   +1 more source

Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease.

Cell, 2000
Neurodegenerative disorders like Huntington's disease (HD) are characterized by progressive and putative irreversible clinical and neuropathological symptoms, including neuronal protein aggregates.
Ai Yamamoto, J. Lucas, R. Hen
semanticscholar   +1 more source

The differential diagnosis of chorea [PDF]

, 2007
Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Wild, EJ, Tabrizi, SJ
core  

Assessment of the Performance of a Modified Motor Scale as Applied to Juvenile Onset Huntington’s Disease [PDF]

, 2019
Background:Huntington’s disease can present at almost any age but traditionally, those with an onset ≤20 years are described as having juvenile onset Huntington’s disease (JOHD).
Landwehrmyer, G Bernhard, Nopoulos, Peggy, Burgunder Jean-Marc, REGISTRY Investigators of the European Huntington’s Disease Netw, Squitieri, F, Horton, MC, Nopoulos, P, Burgunder, J-M, Barker, Roger A, Nance, M, Burgunder, Jean-Marc, Russo C. V., Horton, Mike C, Nance, Martha, Quarrell, O, Barker, RA, Landwehrmyer, GB, Squitieri, Ferdinando, Quarrell, Oliver   +18 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues

Molecular Medicine
Background The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the production of a small RNA, HTT1a, coding for only exon 1 of HTT.
Franziska Hoschek, Julia Natan, Maximilian Wagner, Kirupa Sathasivam, Alshaimaa Abdelmoez, Björn von Einem, Gillian P. Bates, G. Bernhard Landwehrmeyer, Andreas Neueder   +8 more
doaj   +1 more source

Characterisation of a transgenic ovine model of Huntington’s disease [PDF]

, 2011
A transgenic ovine model of Huntington’s disease has been developed to enable the examination of the earliest disease changes in a large mammal. Ovis aries were selected because their basal ganglia and cortex is similar to analogous regions of the human ...
Waldvogel, H, Rudiger, S, Patassini, S, Bawden, S, Morton, J, Reid, Susanne, McLaughlan, C, Keynes, P, Jacobsen, J, MacDonald, M, Handley, R, Snell, R, Faull, R, Gusella, J   +13 more
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Health-related quality of life and unmet healthcare needs in Huntington’s disease [PDF]

, 2017
Background Huntington’s disease (HD) is a rare neurodegenerative disorder with a prevalence of 6 per 100.000. Despite increasing research activity on HD, evidence on healthcare utilization, patients’ needs for healthcare services and ...
Ruud, Gunvor A, Andelic, Nada, van Walsem, Marleen R, Howe, Emilie I, Frich, Jan C   +4 more
core   +1 more source