Results 71 to 80 of about 5,645,275 (159)

Three Generations of Huntington’s Disease in a Family-Diagnosed after Juvenile Presentation in an Adolescent: A Case Report

Indian Pediatrics Case Reports
Background: Huntington’s disease (HD) is a neurodegenerative disorder characterized by dominant inheritance, choreoathetosis, cognitive decline, and psychiatric disturbances.
Keerthana Muralidhar, Muganagowda Patil
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Wheel running from a juvenile age delays onset of specific motor deficits but does not alter protein aggregate density in a mouse model of Huntington's disease

BMC Neuroscience, 2008
Background Huntington's disease (HD) is a neurodegenerative disorder predominantly affecting the cerebral cortex and striatum. Transgenic mice (R6/1 line), expressing a CAG repeat encoding an expanded polyglutamine tract in the N-terminus of the ...
Spires Tara L, Cordery Patricia M, van Dellen Anton, Blakemore Colin, Hannan Anthony J   +4 more
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Economic Cost of Current and Alternative Models of Multidisciplinary Care of Juvenile‐Onset Huntington's Disease

Movement Disorders Clinical Practice, Volume 13, Issue 4, Page 964-972, April 2026.
Abstract Background Multidisciplinary care has been advocated for Juvenile‐onset Huntington's Disease but there has been no detailed analysis of this. Objectives To evaluate the current economic costs of providing health care for patients with Juvenile‐onset Huntington's disease (JoHD) and to model the effects and economic costs of providing a ...
Tracey A. Young, Penny A. Curtis, Jill Thompson, Aileen K. Ho, Helen Santini, Oliver W. Quarrell   +5 more
wiley   +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
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Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. [PDF]

, 2012
Cln3(Δex7/8) mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death.
Boustany, Rose-Mary, Ruether Klaus, Martin Klingenspor, Brown, D., Hölter, S.M., Wheeler, V., Staropoli, J., Schrewe, A., Patricia Da Silva-Buttkus, Dirk H. Busch (125319), Ella Dragileva, Martin Hrabě de Angelis, Wolfgang Wurst (712), Wurst, Wolfgang, Raffi Bekeredjian (160215), Jolene Guide, de Angelis, M., Klingenspor Martin, Klopstock, T., Rathkolb, B., Harati, Hayat, Graw Jochen, Harati Hayat, Breton, Sylvie, Wolf Eckhard, Oliver Puk (160194), Frauke Neff, Calzada-Wack, Julia, Jan Rozman, Hrabé de Angelis, Martin, Larissa Haliw (160166), Calzada-Wack, J., Staropoli, J.F., Anja Schrewe, Cotman, S., Garrett, L., Busch, D. H., Julia Calzada-Wack (160181), Klingenspor, Martin, John F Staropoli, Lillian Garrett (160169), Garrett Lillian, Biswas Sunita, Lopez, E., Sun, M., Favor, J., Rose-Mary Boustany (160261), Gale Evan, Hölter, S., Racz, I., Ildikó Racz (5649520), Hill, Eric, Birgit Rathkolb, Klopstock, Thomas, Fuchs, Helmut, Biswas, Sunita, Eckhard Wolf, Krause, D., Fuchs Helmut, Ruether, Klaus, Thure Adler (125314), Busch, D.H., Cotman, S.L., Krause, D.S., Brown, D.E., Busch, D., Klaus Ruether, Raffi Bekeredjian, Jack Favor, Jan Rozman (149181), Hayat Harati (160240), Racz, Ildikó, Anja Schrewe (160188), Evan Gale (160257), Boustany, R., Biswas, S., Fuchs, H., Neff Frauke, Martin Hrabě de Angelis (2579524), Birgit Rathkolb (39867), Haliw, L., Valérie Gailus-Durner, Dragileva Ella, Lillian Garrett, Da Silva-Buttkus Patricia, Daniela S Krause, Helmut Fuchs, Skosyrski, Sergej, Daniela S. Krause (160249), Hill, E., Staropoli John F., Andreas Zimmer (78836), Boustany Rose-Mary, Favor Jack, Patricia Da Silva-Buttkus (160178), Cotman, Susan L., Breton Sylvie, Krause, D. S., Dragileva, Ella, Andreas Zimmer, Thomas Klopstock (160225), Sun Minxuan, Becker, Lore, Sergej Skosyrski, Helmut Fuchs (39863), Hölter, Sabine M., Klaus Ruether (160274), Brown, Diane E., Zimmer Andreas, Hill Eric, Oliver Puk, Da Silva-Buttkus, P., de Angelis Martin Hrabě, Gailus-Durner Valérie, Wolf, Eckhard, Becker Lore, Larissa Haliw, Gale, Evan, Sylvie Breton (160269), Staropoli, J. F., Minxuan Sun (160200), Evan Gale, Zimmer, Andreas, Hrabě de Angelis, M., Sabine M Hölter, Boustany, R. M., Adler, Thure, de Angelis, M. H., Favor, Jack, Racz Ildikó, Jack Favor (160206), Ildikó Racz, Klopstock Thomas, Hölter, S. M., Wurst, W., Jolene Guide (160252), Guide, Jolene, Sun, Minxuan, Gailus-Durner, Valérie, Wolf, E., Brown, D. E., Becker, L., Lore Becker (160172), Guide Jolene, Neff, F., Eric Hill (160245), Sabine M. Hölter (160170), Vanessa C Wheeler, Skosyrski, S., Cotman Susan L., Lopez Edith, Busch, Dirk H., Sunita Biswas (160168), Staropoli, John F., Garrett, Lillian, Julia Calzada-Wack, Wheeler, V.C., Puk, Oliver, Krause, Daniela S., Sun, M. X., Graw, Jochen, Jochen Graw (47527), Haliw, Larissa, Lore Becker, Valérie Gailus-Durner (125329), Schrewe, Anja, Ella Dragileva (136558), Edith Lopez, Brown Diane E., Bekeredjian, R., Wolfgang Wurst, Hölter Sabine M., Puk Oliver, Neff, Frauke, Da Silva-Buttkus, Patricia, Bekeredjian, Raffi, Puk, O., Thure Adler, Thomas Klopstock, Minxuan Sun, Wheeler Vanessa C., Busch Dirk H., Jochen Graw, Wheeler, Vanessa C., Frauke Neff (160183), Wheeler, V. C., Rathkolb, Birgit, Edith Lopez (160236), Bekeredjian Raffi, Rozman, J., Rozman, Jan, Boustany, R.M., Haliw Larissa, Susan L Cotman, Susan L. Cotman (160284), Ruether, K., Harati, H., Diane E. Brown (160264), Rose-Mary Boustany, Graw, J., Sunita Biswas, Sergej Skosyrski (160175), Schrewe Anja, Dragileva, E., Gailus-Durner, V., Sylvie Breton, Eric Hill, Adler Thure, Skosyrski Sergej, Eckhard Wolf (39870), John F. Staropoli (160164), Dirk H Busch, Wurst Wolfgang, Krause Daniela S., Lopez, Edith, Martin Klingenspor (68144), Zimmer, A., Klingenspor, M., Diane E Brown, Rathkolb Birgit, Guide, J., Adler, T., Gale, E., Hayat Harati, Calzada-Wack Julia, Breton, S., Rozman Jan, Cotman, S. L., Vanessa C. Wheeler (136566), Silva-Buttkus, Patricia da   +229 more
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β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease

, 2013
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO),
ROMANO, SILVIA, Giorgini, Flaviano, Orth, Michael, Outeiro, Tiago F, Vittori, Angelica, Registry, investigators of the European Huntington’s Disease Network, Roos, Raymund A. C, Hollox, Edward J   +7 more
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Astrocytes generated from patient induced pluripotent stem cells recapitulate features of Huntington’s disease patient cells

Molecular Brain, 2012
Background Huntington’s Disease (HD) is a devastating neurodegenerative disorder that clinically manifests as motor dysfunction, cognitive impairment and psychiatric symptoms. There is currently no cure for this progressive and fatal disorder.
Juopperi Tarja A, Kim Woon, Chiang Cheng-Hsuan, Yu Huimei, Margolis Russell L, Ross Christopher A, Ming Guo-li, Song Hongjun   +7 more
doaj   +1 more source

Inhibition of the NLRP3 Inflammasome With MCC950 Improves Gut Health in Huntington's Disease Mice

Journal of Neurochemistry, Volume 170, Issue 4, April 2026.
The NLRP3 inflammasome in HD (Huntington's disease) peripheral pathology (in gastrointestinal complications) is vastly unexplored. In this preclinical study, non‐invasive readouts of gut function assessment revealed that inhibiting NLRP3 inflammasome by chronic administration of MCC950 by oral route softened the faecal pellets, improved faecal output ...
Sujan Kumar Sarkar, Millicent N. Ekwudo, Da Lu, Bethany Masson, Pamudika Kiridena, Nicholas van de Garde, Thibault Renoir, James E. Vince, Veerasikku Gopal Deepagan, Anthony J. Hannan, Carolina Gubert   +10 more
wiley   +1 more source

Disease activity and disability in children with juvenile idiopathic arthritis one year following presentation to paediatric rheumatology. Results from the Childhood Arthritis Prospective Study [PDF]

, 2009
Objective. Inflammatory arthritis in childhood is variable in terms of both presentation and outcome. This analysis describes disease activity in children with juvenile idiopathic arthritis (JIA) during the first year following presentation to a ...
Hyrich, Kimme L., Foster, H.E., Hyrich, K.L., Gardner-Medwin, J., Hyrich, Kimme L, Thornton, J., Lal, Sham D., Lal, S.D., Adib, Navid, Baildam, Eileen, Chieng, Alice, Davidson, J., Foster, Helen E., Foster, Helen E, Wedderburn, L.R., Gardner-Medwin, Janet, Lal, Sham D, Davidson, Joyce, Thomson, W., Wedderburn, Lucy R., Thornton, Judith, Baildam, E., Chieng, A., Adib, N., Thomson, Wendy, Wedderburn, Lucy R   +25 more
core   +1 more source

Clinical and genetic analysis of juvenile-onset Huntington's disease: 10 cases report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Objective To investigate the clinical features and dynamic mutation of 10 cases with juvenile-onset Huntington's disease (HD). Methods The cytosine-adenine-guanine (CAG) repeats of IT15 gene were detected by polymerase chain reaction (PCR) and capillary
Ying HAO, Yuan-yuan CHEN, Jin ZHANG, Hui-zi MA, Wei-hong GU   +4 more
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