Principles and Practice of Movement Disorders, 2010 Huntington disease (HD) is a autosomal dominant neurodegenerative disease caused by expansion of a trinucleotide repeat (cytosine, adenine, and guanine [CAG]) on the short arm of chromosome four.
Joseph Jankovic +5 more
semanticscholar +2 more sources
Clinical presentation of juvenile Huntington disease [PDF]
Arquivos de Neuro-Psiquiatria, 2006 OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner.
Ruocco Heloísa H. +4 more
doaj +2 more sources
Huntington disease exacerbates action impulses [PDF]
Frontiers in Psychology, 2023 BackgroundImpulsivity is a common clinical feature of Huntington disease (HD), but the underlying cognitive dynamics of impulse control in this population have not been well-studied.ObjectiveTo investigate the temporal dynamics of action impulse control ...
Shuhei Shiino +4 more
doaj +2 more sources
Cortical and Striatal Circuits in Huntington's Disease
Frontiers in Neuroscience, 2020 Huntington's disease (HD) is a hereditary neurodegenerative disorder that typically manifests in midlife with motor, cognitive, and/or psychiatric symptoms.
Blumenstock, S., Dudanova, I.
core +2 more sources
Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease [PDF]
Human Molecular Genetics, 2003 An expanded CAG repeat is the underlying genetic defect in Huntington disease, a disorder characterized by motor, psychiatric and cognitive deficits and striatal atrophy associated with neuronal loss.
Elizabeth Slow
openalex +2 more sources
Predictors of persistence and adherence to deutetrabenazine among patients with Huntington disease or tardive dyskinesia [PDF]
Mental Health Clinician, 2023 Introduction Deutetrabenazine is approved for treatment of Huntington disease (HD)-related chorea and tardive dyskinesia (TD) in adults. Factors associated with deutetrabenazine persistence and adherence are not well understood.
Claassen Daniel O. MD +4 more
doaj +2 more sources
In vivo evidence for NMDA receptor mediated excitotoxicity in a murine genetic model of Huntington Disease [PDF]
, 2008 N-methyl-D-aspartate receptor (NMDAR) mediated excitotoxicity is implicated as a proximate cause of neurodegeneration in Huntington Disease (HD). However, this hypothesis has not been tested rigorously in vivo. NMDAR NR2B-subunits are the predominant NR2
Joe Tsien +4 more
core +4 more sources
The Biomedical & Life Sciences Collection, 2004 Huntington’s disease is an inherited, autosomal dominant, degenerative neurological disorder characterized by dyskinesia (e.g., chorea and other motor abnormalities), nonaphasic dementia, and disorders of mood such as depression (Folstein, 1989; Folstein et al., 1990).
Jean Paul G. Vonsattel, Maxim Lianski
+15 more sources
Exploring genetic factors involved in huntington disease age of onset. E2F2 as a new potential modifier gene [PDF]
, 2015 Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although the mechanism by which it could ...
Aguirre, Ana +17 more
core +11 more sources
The BACHD Rat Model of Huntington Disease Shows Signs of Fronto-Striatal Dysfunction in Two Operant Conditioning Tests of Short-Term Memory. [PDF]
PLoS ONE, 2017 The BACHD rat is a recently developed transgenic animal model of Huntington disease, a progressive neurodegenerative disorder characterized by extensive loss of striatal neurons.
Erik Karl Håkan Clemensson +3 more
doaj +1 more source