The clinical and genetic features of Huntington disease

scientific article published on 05 October 2010

The clinical and genetic features of Huntington disease is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1177/0891988710383573
P698PubMed publication ID20923757

P50authorBlair R LeavittQ84165482
P2093author name stringAaron Sturrock
P2860cites workCAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroupQ24644358
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.Q27860836
Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutationQ28246858
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal deathQ28287762
Selective sparing of a class of striatal neurons in Huntington's diseaseQ45297134
Sleep disturbances and severity of Huntington's diseaseQ45297195
Morphologic and histochemical characteristics of a spared subset of striatal neurons in Huntington's diseaseQ45298031
Huntington disease in a nonagenarian mistakenly diagnosed as normal pressure hydrocephalusQ45298171
Regional cortical thinning in preclinical Huntington disease and its relationship to cognitionQ45298420
A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration.Q45298582
Creatine in Huntington disease is safe, tolerable, bioavailable in brain and reduces serum 8OH2'dG.Q45299923
Huntington disease patients and transgenic mice have similar pro-catabolic serum metabolite profilesQ45300045
Tetrabenazine as antichorea therapy in Huntington disease: a randomized controlled trialQ45300094
Decreased expression of striatal signaling genes in a mouse model of Huntington's diseaseQ45300376
Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtinQ45301569
At risk for Huntington disease: The PHAROS (Prospective Huntington At Risk Observational Study) cohort enrolledQ45301820
Speech and language delay are early manifestations of juvenile-onset Huntington diseaseQ45302788
Effect of donepezil on motor and cognitive function in Huntington diseaseQ45302793
Two years' follow-up of rivastigmine treatment in Huntington disease.Q45304063
Testicular degeneration in Huntington disease.Q45304856
Psychiatric symptoms in Huntington's disease before diagnosis: the predict-HD studyQ45305040
Huntington's disease like-2 neuropathologyQ45305202
Regional and progressive thinning of the cortical ribbon in Huntington's diseaseQ45305508
Evidence of thalamic dysfunction in Huntington disease by proton magnetic resonance spectroscopyQ45305917
Riluzole in Huntington's disease: a 3-year, randomized controlled studyQ45305925
1H magnetic resonance spectroscopy in preclinical Huntington diseaseQ45305972
A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic featuresQ45305978
Mitochondrial sensitivity and altered calcium handling underlie enhanced NMDA-induced apoptosis in YAC128 model of Huntington's disease.Q45307199
Evidence for a preferential loss of enkephalin immunoreactivity in the external globus pallidus in low grade Huntington's disease using high resolution image analysisQ45307235
Reduced expression of preproenkephalin in striatal neurons from huntington's disease patientsQ45307627
Do defecs in mitochondrial energy metabolism underlie the pathology of neurodegenerative diseases?Q48317832
Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.Q48373564
Huntington diseaseQ48465200
Neuropeptide Y, somatostatin, and reduced nicotinamide adenine dinucleotide phosphate diaphorase in the human striatum: a combined immunocytochemical and enzyme histochemical study.Q50904251
Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitroQ28584697
Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic miceQ29615357
A randomized, placebo-controlled trial of latrepirdine in Huntington diseaseQ30411257
Comorbidities of obsessive and compulsive symptoms in Huntington's diseaseQ30430896
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.Q30445013
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS studyQ30445842
Clinical correlation of striatal 1H MRS changes in Huntington's diseaseQ30581695
Heterogeneity in 1H-MRS profiles of presymptomatic and early manifest Huntington's diseaseQ30979352
Transcriptional dysregulation in striatal projection- and interneurons in a mouse model of Huntington's disease: neuronal selectivity and potential neuroprotective role of HAP1.Q31129663
Memory disorders associated with Huntington's disease: verbal recall, verbal recognition and procedural memoryQ33365782
Magnetic resonance imaging of Huntington's disease: preparing for clinical trialsQ33437923
Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline dataQ33489152
Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessmentQ33595540
Increased rate of suicide among patients with Huntington's diseaseQ33620527
Late onset of Huntington's diseaseQ33621109
Differential loss of striatal projection neurons in Huntington diseaseQ33637273
Altered neurotransmitter receptor expression in transgenic mouse models of Huntington's diseaseQ33703899
Are there multiple pathways in the pathogenesis of Huntington's disease?Q33703905
Striatal and white matter predictors of estimated diagnosis for Huntington diseaseQ33941486
Transcriptional dysregulation in Huntington's diseaseQ34001953
Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivoQ34044164
Juvenile onset Huntington's disease--clinical and research perspectives.Q34091006
Early increase in extrasynaptic NMDA receptor signaling and expression contributes to phenotype onset in Huntington's disease miceQ34098463
Loss of normal huntingtin function: new developments in Huntington's disease researchQ34142361
Replication of the neurochemical characteristics of Huntington's disease by quinolinic acidQ34384772
Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.Q34565156
CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approachesQ34624785
The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene testQ34680311
Huntington's disease phenocopy syndromesQ34712082
A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's diseaseQ34795840
Huntington's chorea. Report of 3 cases and review of the literatureQ35115751
Alternative excitotoxic hypothesesQ35227246
Neuropsychiatric aspects of Huntington's disease.Q35463916
Integrating fetal neural transplants into a therapeutic strategy: the example of Huntington's diseaseQ35718776
Longitudinal change in basal ganglia volume in patients with Huntington's diseaseQ45293834
New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applicationsQ45295014
Orexin loss in Huntington's disease.Q45295272
Disintegration of the sleep-wake cycle and circadian timing in Huntington's disease.Q45295709
1H NMR spectroscopy studies of Huntington's disease: correlations with CAG repeat numbersQ45296001
Critical periods of suicide risk in Huntington's diseaseQ45296374
The causes of sporadic and 'senile' choreaQ45296612
Huntington's disease and other choreas.Q45296799
Huntington disease: clinical, genetic, and social aspectsQ45297052
Mitochondria take center stage in aging and neurodegenerationQ36264218
Decreased N-acetyl-aspartate/choline ratio and increased lactate in the frontal lobe of patients with Huntington's disease: a proton magnetic resonance spectroscopy studyQ36900936
Detection of Huntington's disease decades before diagnosis: the Predict-HD studyQ36941187
Huntington's disease: progress and potential in the fieldQ37016096
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onsetQ37073913
Cerebral cortex and the clinical expression of Huntington's disease: complexity and heterogeneityQ37132239
Mutation in Huntington's choreaQ37134786
DNA sequence variation in a 3.7-kb noncoding sequence 5' of the CYP1A2 gene: implications for human population history and natural selectionQ37218857
Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional surveyQ37222254
Differential susceptibility to excitotoxic stress in YAC128 mouse models of Huntington disease between initiation and progression of diseaseQ37311202
Lesion of striatal neurons with kainic acid provides a model for Huntington's choreaQ39109797
Duplication of biochemical changes of Huntington's chorea by intrastriatal injections of glutamic and kainic acidsQ39114293
Huntington disease: finding the gene and afterQ39489967
An outline for the analysis of dementia: The memory disorder of Huntingtons diseaseQ39835513
Aging, energy, and oxidative stress in neurodegenerative diseases.Q40478731
Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c releaseQ40551652
Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines.Q40721588
Preimplantation diagnosis for Huntington's disease (HD): clinical application and analysis of the HD expansion in affected embryos.Q40974688
Predictive testing for Huntington disease in Canada: the experience of those receiving an increased riskQ41123560
Characteristics of individuals with Huntington disease in long-term careQ41159922
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tractQ41182414
A primate model of Huntington's disease: behavioral and anatomical studies of unilateral excitotoxic lesions of the caudate-putamen in the baboonQ41197259
Estimation of fertility and fitness in Huntington disease in New EnglandQ41232581
Clinical Aspects of CAG Repeat DiseasesQ41527046
Quantitative proton-decoupled 31P MRS and 1H MRS in the evaluation of Huntington's and Parkinson's diseasesQ42454434
Early onset Huntington disease: a neuronal degeneration syndromeQ42466838
Survival of basal ganglia neuropeptide Y-somatostatin neurones in Huntington's diseaseQ42503175
Decreased frontal choline and neuropsychological performance in preclinical Huntington diseaseQ42509872
Predictive testing for Huntington's diseaseQ42882096
Huntington's disease in Venezuela: 7 years of follow-up on symptomatic and asymptomatic individualsQ43411918
Factors associated with slow progression in Huntington's diseaseQ43593771
NMDA receptor function in mouse models of Huntington diseaseQ43825271
Plasma 24S-hydroxycholesterol and caudate MRI in pre-manifest and early Huntington's disease.Q43854094
Increased sensitivity to N-methyl-D-aspartate receptor-mediated excitotoxicity in a mouse model of Huntington's diseaseQ43925468
Presymptomatic, prenatal, and exclusion testing for Huntington disease using seven closely linked DNA markersQ44228164
Abnormalities of striatal projection neurons and N-methyl-D-aspartate receptors in presymptomatic Huntington's diseaseQ44480462
The quinolinic acid model of Huntington's disease: locomotor abnormalitiesQ45021251
Circulating and cerebrospinal fluid ghrelin and leptin: potential role in altered body weight in Huntington's diseaseQ45100272
Creatine supplementation lowers brain glutamate levels in Huntington's diseaseQ45239341
Psychopathology in Huntington's disease patientsQ45288763
Huntington disease-like 2: the first patient with apparent European ancestry.Q45288979
Hereditary late-onset chorea without significant dementia: genetic evidence for substantial phenotypic variation in Huntington's diseaseQ45288982
Selective striatal neuronal loss in a YAC128 mouse model of Huntington diseaseQ45289366
Highly disabling cerebellar presentation in Huntington disease.Q45289403
Excitotoxin lesions in primates as a model for Huntington's disease: histopathologic and neurochemical characterizationQ45291026
Immune markers for Huntington's disease?Q45292011
Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased riskQ45292147
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.Q45292888
Relationship between CAG repeat length and brain volume in premanifest and early Huntington's diseaseQ45292937
Basal ganglia volume and proximity to onset in presymptomatic Huntington diseaseQ45293561
P433issue4
P921main subjectHuntington's diseaseQ190564
P304page(s)243-259
P577publication date2010-10-05
P1433published inJournal of Geriatric Psychiatry and NeurologyQ6295256
P1476titleThe clinical and genetic features of Huntington disease
P478volume23

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cites work (P2860)
Q89493910Altered Levels and Isoforms of Tau and Nuclear Membrane Invaginations in Huntington's Disease
Q45292387Better global and cognitive functioning in choreatic versus hypokinetic-rigid Huntington's disease
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Q44832011Characterization of a rat model of Huntington's disease based on targeted expression of mutant huntingtin in the forebrain using adeno-associated viral vectors
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Q30578636Identification of a post-translationally myristoylated autophagy-inducing domain released by caspase cleavage of huntingtin.
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Q36183886Is There an Association of Physical Activity with Brain Volume, Behavior, and Day-to-day Functioning? A Cross Sectional Design in Prodromal and Early Huntington Disease
Q26752867Levodopa-Induced Dyskinesia Is Related to Indirect Pathway Medium Spiny Neuron Excitotoxicity: A Hypothesis Based on an Unexpected Finding
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Q37943395What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration

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