Huntington disease

  title={Huntington disease},
  author={Gillian P Bates and Ray Dorsey and James F. Gusella and Michael R. Hayden and Chris Kay and Blair R. Leavitt and Martha A. Nance and Christopher A. Ross and Rachael I. Scahill and Ronald Wetzel and Edward J. Wild and Sarah J. Tabrizi},
  journal={Nature Reviews Disease Primers},
Huntington disease is devastating to patients and their families — with autosomal dominant inheritance, onset typically in the prime of adult life, progressive course, and a combination of motor, cognitive and behavioural features. The disease is caused by an expanded CAG trinucleotide repeat (of variable length) in HTT, the gene that encodes the protein huntingtin. In mutation carriers, huntingtin is produced with abnormally long polyglutamine sequences that confer toxic gains of function and… 
Therapeutics Advancement for Huntington Disease
Current therapeutic research approaches and their possible uses in HD are discussed to improve the quality of life and life span of HD patients but also provide a beneficial role in other inherited and neurological disorders.
Therapeutic Advances for Huntington’s Disease
Current therapeutic research approaches and their possible uses for Huntington's disease are discussed, including targeting the mutant huntingtin (mHTT) protein and the HTT gene.
Huntington disease: A quarter century of progress since the gene discovery
Huntington’s disease: diagnosis and management
Current treatments are symptomatic, and largely directed at the chorea and neurobehavioural problems, although supporting trial evidence for these is often limited.
Multiple clinical features of Huntington’s disease correlate with mutant HTT gene CAG repeat lengths and neurodegeneration
This review highlights the significant correlations of the HD clinical features of age of onset, motor and cognitive disabilities, decline in living capabilities, weight loss, risk of death, and brain neurodegeneration with respect to their associations with CAG repeat lengths of the HTT gene.
Huntington’s Disease Pathogenesis: Two Sequential Components
The identification of the HD gene has not yet led to an effective treatment, but continued human genetic analysis of genotype-phenotype relationships in large HD subject populations has provided insights into pathogenesis that divide the course of the disease into two sequential, mechanistically distinct components.
New developments in Huntington’s disease and other triplet repeat diseases: DNA repair turns to the dark side
Abstract Huntington’s disease (HD) is a fatal, inherited neurodegenerative disease that causes neuronal death, particularly in medium spiny neurons. HD leads to serious and progressive motor,
Reviewing the biochemical implications of normal and mutated huntingtin in Huntington's disease.
Huntingtin (Htt) is a multi-function protein of the brain. Normal Htt shows a common alpha-helical structure but conformational changes into a form with beta strands is the principal cause of
Therapeutic Update on Huntington’s Disease: Symptomatic Treatments and Emerging Disease-Modifying Therapies
B biomarkers targeting the HTT protein to measure target engagement or disease progression and rating scales more sensitive to the earliest clinical changes will be instrumental in the next phase of disease-modifying clinical trials in HD likely to target the phenoconversion period of the disease, including the prodromal HD stage.
Subcellular Localization And Formation Of Huntingtin Aggregates Correlates With Symptom Onset And Progression In A Huntington’S Disease Model
The R6/2 mouse model is used to investigate the molecular and behavioural consequences of expressing exon 1 HTT with 90 CAGs, a mutation that causes juvenile Huntington’s disease, and it is shown that nuclear aggregation occurred earlier in R 6/2(CAG)90 mice and that this correlated with the onset of transcriptional dysregulation.


Huntington's disease: from pathology and genetics to potential therapies.
Not all of the effects of mutant huntingtin may be cell-autonomous, and it is possible that abnormalities in neighbouring neurons and glia may also have an impact on connected cells.
Diagnostic genetic testing for Huntington's disease
The purpose of this article is to draw the attention of neurologists and psychiatrists to the challenges and pitfalls encountered in diagnostic testing for HD to guide practice and help ensure the best possible outcome for individuals and their family.
Huntingtin in health and disease.
  • A. Young
  • Biology
    The Journal of clinical investigation
  • 2003
After linkage of the Huntington disease (HD) gene was found in 1983, it took ten years of work by an international group to identify the mutation in the gene interesting transcript 15 (IT15) that
Huntington's disease: phenomenological diversity of a neuropsychiatric condition that challenges traditional concepts in neurology and psychiatry.
The following case report emphasizes the spectrum and clinical significance of neuropsychiatric phenomena associated with Huntington’s disease and discusses the diagnostic power of specific neuropsychological approaches.
Genetic modifiers of Huntington's disease
Advances in genetic technology are expected to highlight processes capable of altering the course of HD and therefore to provide new, human‐validated targets for traditional drug development, with the goal of developing rational treatments to delay or prevent onset of HD clinical signs.
Prospects for neuroprotective therapies in prodromal Huntington's disease
Both the earliest detectable clinical and laboratory manifestations of HD are reviewed, as well as potential neuroprotective therapies that could be utilized in presymptomatic HD.
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
The characterization of a monoclonal antibody is reported that selectively recognizes polyglutamine expansion in the proteins implicated in HD and in spinocerebellar ataxia (SCA) 1 and 3 and detects specific pathological proteins expected to contain such expansion.
Immune markers for Huntington’s disease?
Highland’s disease may provide a unique insight into the very earliest changes underlying neurodegeneration, and may be of importance in the search for biomarkers and therapy development in HD.
Pathogenic mechanisms in Huntington's disease.
The Clinical and Genetic Features of Huntington Disease
An overview of the clinical and genetic features of HD together with a summary of clinical research at this time is provided.