Results 51 to 60 of about 2,320 (116)

Juvenile‐onset Huntington's disease – Spectrum and evolution of presenting movement disorders

Annals of Clinical and Translational Neurology
Juvenile‐onset Huntington's disease (HD) is a rare subset of HD with symptom‐onset before the age of 18. In contrast to the adult population, children present early‐on with behavioral, psychiatric, and cognitive symptoms, in addition to a diverse ...
Kathryn Yang, Vicente Quiroz, Amy Tam, Rasha Srouji, Ximena Villanueva, Claudia Amarales, Darius Ebrahimi‐Fakhari   +6 more
doaj   +1 more source

Juvenile Huntington's disease confirmed by genetic examination in twins Doença de Huntington juvenil confirmada por exame genético em gêmeas

Arquivos de Neuro-Psiquiatria, 1999
Early-onset Huntington's disease (HD) occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, mini-mental state examination, blood laboratory exams ...
GILBERTO LEVY, MARIA EDUARDA NOBRE, VINICIUS T. CIMINI, SALMO RASKIN, ELIASZ ENGELHARDT   +4 more
doaj   +1 more source

Modulation of the Stress Granule Component Carhsp1 Mitigates Disease‐Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models

Movement Disorders, Volume 41, Issue 6, Page 1516-1527, June 2026.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) neurogenerative disorder that results from CAG trinucleotide repeat expansions in the ATXN3 gene, leading to toxic protein aggregate formation and cellular pathway dysfunction.
Tiago Moreira‐Gomes, Adriana Marcelo, Ana Teresa Rajado, Rafael G. Costa, Ricardo Afonso‐Reis, Cristiana R. Madeira, Inês T. Afonso, David V.C. Brito, Adriana A. Vaz, Clévio Nóbrega   +9 more
wiley   +1 more source

Voxel-based morphometry in the R6/2 transgenic mouse reveals differences between genotypes not seen with manual 2D morphometry

Neurobiology of Disease, 2009
The R6/2 mouse is the most common mouse model used for Huntington's disease (HD), a fatal, inherited neurodegenerative CAG disorder characterized by marked brain atrophy. We scanned 47 R6/2 transgenic and 42 wildtype (WT) ex vivo mouse brains at 18 weeks
S.J. Sawiak, N.I. Wood, G.B. Williams, A.J. Morton, T.A. Carpenter   +4 more
doaj   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Huntington's disease: a clinical review

Orphanet Journal of Rare Diseases, 2010
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
Roos Raymund AC
doaj   +1 more source

In Vivo Mapping of Catecholaminergic Loss and Iron Deposition in Huntington's Disease

Movement Disorders, Volume 41, Issue 5, Page 1257-1267, May 2026.
Abstract Background The pathophysiology of Huntington's disease (HD) remains obscure. Magnetic resonance imaging (MRI) can reveal in vivo molecular changes related to disease pathology. Objectives To investigate catecholaminergic neuronal integrity and subcortical brain iron accumulation in HD employing neuromelanin‐sensitive MRI, and quantitative ...
Edoardo R. de Natale, Heather Wilson, Efstratios Karavasilis, Athanasia Liozidou, Chrisoula Kartanou, Georgios Velonakis, Jens Kuhle, Ioannis Zalonis, Georgia Karadima, Leonidas Stefanis, Georgios Koutsis, Marios Politis   +11 more
wiley   +1 more source

Associations Between Lifetime Stressor Exposure and Externalizing Problems in Youth at Risk for Huntington Disease

Brain and Behavior, Volume 16, Issue 4, April 2026.
This study examined lifetime stressor exposure in adolescents at genetic risk for Huntington disease (HD) compared to community controls. At‐risk participants reported significantly greater lifetime stressor exposure than controls and were more likely to report externalizing problems such as rule‐breaking behavior when exposed to stress.
Katherine E. McDonell, Shuhei Shiino, Elizabeth M. Key, Louis DeLuna, Kelly H. Watson, Bruce E. Compas, George M. Slavich, Daniel O. Claassen   +7 more
wiley   +1 more source

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
doaj   +1 more source

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
doaj   +1 more source