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About 3,893 results

ALLMedicine™ Huntington Disease Center

Research & Reviews  1,903 results

Validation of diagnostic codes and epidemiologic trends of Huntington disease: a popula...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7877055
Orphanet Journal of Rare Diseases; Vicente E, Ruiz de Sabando A et. al.

Feb 11th, 2021 - There is great heterogeneity on geographic and temporary Huntington disease (HD) epidemiological estimates. Most research studies of rare diseases, including HD, use health information systems (HIS) as data sources. This study investigates the val...

Autonomic dysregulation as an early pathologic feature of Huntington Disease.
https://doi.org/10.1016/j.autneu.2021.102775
Autonomic Neuroscience : Basic & Clinical; Schultz JL, Harshman LA et. al.

Feb 11th, 2021 - Autonomic nervous system (ANS) dysfunction has been described in adults with motor-manifest Huntington's Disease (HD) or those who are near their predicted motor onset. It is unclear if ANS dysfunction is present years prior to the onset of motor ...

Super-resolution imaging reveals extrastriatal synaptic dysfunction in presymptomatic H...
https://doi.org/10.1016/j.nbd.2021.105293
Neurobiology of Disease; Ravalia AS, Lau J et. al.

Feb 8th, 2021 - Synaptic structure and function are compromised prior to cell death and symptom onset in a variety of neurodegenerative diseases. In Huntington disease (HD), a CAG repeat expansion in the gene encoding the huntingtin protein results in a presympto...

Perceived Effects of Neuropsychiatric Symptoms on Functional Status in Early-stage Hunt...
https://doi.org/10.1177/0193945921992545
Western Journal of Nursing Research; Gibson JS, Rhoten BA et. al.

Feb 5th, 2021 - Neuropsychiatric symptoms in Huntington disease (HD) are commonly encountered, but their effects on functional status are poorly understood. In this qualitative study guided by the Theory of Unpleasant Symptoms, 15 HD patients and caregivers compl...

Developmental malformations in Huntington disease: neuropathologic evidence of focal ne...
https://doi.org/10.1007/s00401-021-02269-4 10.1016/j.nbd.2016.09.006 10.1093/hmg/10.22.2515 10.1126/science.aan8690 10.1148/radiology.182.2.1732969 10.1093/brain/aws019 10.1523/jneurosci.16-17-05523.1996 10.1007/s00401-015-1490-4 10.1007/s004010051017 10.1097/nen.0b013e3180302090 10.1016/j.nbd.2018.08.010 10.1002/biot.200600249 10.1126/science.7618107 10.1093/hmg/ddn377 10.1007/s12035-013-8591-7 10.1016/s0896-6273(00)80651-0 10.7554/eLife.42988 10.1016/j.neuron.2010.06.027 10.1002/1531-8249(200101)49:1<29::AID-ANA7>3.0.CO;2-B 10.1097/NEN.0b013e318198d320 10.1007/s11910-020-01063-1 10.1111/bpa.12035 10.1056/NEJMoa1314432 10.1212/WNL.49.3.884 10.1007/s10561-008-9078-z 10.1093/hmg/ddg352 10.1093/hmg/9.17.2539 10.1212/WNL.0b013e3182648b65 10.3389/fncel.2015.00099 10.1126/science.aao4426 10.1016/0092-8674(93)90585-E 10.1089/dna.2018.4476 10.1093/hmg/ddw395 10.1212/WNL.0b013e3182648bfe 10.1523/jneurosci.2443-18.2018 10.1093/hmg/ddaa139 10.1038/ncb808 10.1016/0092-8674(95)90542-1 10.1176/appi.ajp.2007.06081266 10.1093/brain/awq280 10.1016/j.brainresbull.2010.04.003 10.1007/s00401-018-1820-4 10.1126/science.1237758 10.1093/brain/118.3.629 10.1016/j.neuron.2016.02.003 10.1093/hmg/10.17.1775 10.1038/ng1276 10.1093/hmg/ddm054 10.1016/j.neuropsychologia.2006.12.015 10.1111/bpa.12555 10.1212/wnl.0000000000008066 10.3389/fcell.2020.00006 10.1007/s00401-007-0311-9 10.1097/00005072-198511000-00003 10.1038/ng1297-404 10.1007/bf00294370
Acta Neuropathologica; Hickman RA, Faust PL et. al.

Jan 31st, 2021 - Neuropathologic hallmarks of Huntington Disease (HD) include the progressive neurodegeneration of the striatum and the presence of Huntingtin (HTT) aggregates that result from abnormal polyQ expansion of the HTT gene. Whether the pathogenic trinuc...

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Guidelines  3 results

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical...
https://doi.org/10.1038/gim.2014.146
Genetics in Medicine : Official Journal of the American C... Bean L, Bayrak-Toydemir P

Oct 30th, 2014 - Huntington disease is an autosomal-dominant neurodegenerative disease of mid-life onset caused by expansion of a polymorphic trinucleotide (CAG) repeat. Variable penetrance for alleles carrying 36-39 repeats has been noted, but the disease appears...

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington dise...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641377
European Journal of Human Genetics : EJHG; Losekoot M, van Belzen MJ et. al.

Sep 19th, 2012 - Huntington disease (HD) is caused by the expansion of an unstable polymorphic trinucleotide (CAG)n repeat in exon 1 of the HTT gene, which translates into an extended polyglutamine tract in the protein. Laboratory diagnosis of HD involves estimati...

Evidence-based guideline: pharmacologic treatment of chorea in Huntington disease: repo...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413759
Neurology Armstrong MJ, Miyasaki JM et. al.

Jul 20th, 2012 - To develop an evidence-based guideline assessing pharmacologic options for treating Huntington disease (HD) chorea. We evaluated available evidence from a structured literature review performed through February 2011. If HD chorea requires treatmen...

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Drugs  2 results see all →

Clinicaltrials.gov  1,943 results

Validation of diagnostic codes and epidemiologic trends of Huntington disease: a popula...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7877055
Orphanet Journal of Rare Diseases; Vicente E, Ruiz de Sabando A et. al.

Feb 11th, 2021 - There is great heterogeneity on geographic and temporary Huntington disease (HD) epidemiological estimates. Most research studies of rare diseases, including HD, use health information systems (HIS) as data sources. This study investigates the val...

Autonomic dysregulation as an early pathologic feature of Huntington Disease.
https://doi.org/10.1016/j.autneu.2021.102775
Autonomic Neuroscience : Basic & Clinical; Schultz JL, Harshman LA et. al.

Feb 11th, 2021 - Autonomic nervous system (ANS) dysfunction has been described in adults with motor-manifest Huntington's Disease (HD) or those who are near their predicted motor onset. It is unclear if ANS dysfunction is present years prior to the onset of motor ...

Super-resolution imaging reveals extrastriatal synaptic dysfunction in presymptomatic H...
https://doi.org/10.1016/j.nbd.2021.105293
Neurobiology of Disease; Ravalia AS, Lau J et. al.

Feb 8th, 2021 - Synaptic structure and function are compromised prior to cell death and symptom onset in a variety of neurodegenerative diseases. In Huntington disease (HD), a CAG repeat expansion in the gene encoding the huntingtin protein results in a presympto...

Perceived Effects of Neuropsychiatric Symptoms on Functional Status in Early-stage Hunt...
https://doi.org/10.1177/0193945921992545
Western Journal of Nursing Research; Gibson JS, Rhoten BA et. al.

Feb 5th, 2021 - Neuropsychiatric symptoms in Huntington disease (HD) are commonly encountered, but their effects on functional status are poorly understood. In this qualitative study guided by the Theory of Unpleasant Symptoms, 15 HD patients and caregivers compl...

Developmental malformations in Huntington disease: neuropathologic evidence of focal ne...
https://doi.org/10.1007/s00401-021-02269-4 10.1016/j.nbd.2016.09.006 10.1093/hmg/10.22.2515 10.1126/science.aan8690 10.1148/radiology.182.2.1732969 10.1093/brain/aws019 10.1523/jneurosci.16-17-05523.1996 10.1007/s00401-015-1490-4 10.1007/s004010051017 10.1097/nen.0b013e3180302090 10.1016/j.nbd.2018.08.010 10.1002/biot.200600249 10.1126/science.7618107 10.1093/hmg/ddn377 10.1007/s12035-013-8591-7 10.1016/s0896-6273(00)80651-0 10.7554/eLife.42988 10.1016/j.neuron.2010.06.027 10.1002/1531-8249(200101)49:1<29::AID-ANA7>3.0.CO;2-B 10.1097/NEN.0b013e318198d320 10.1007/s11910-020-01063-1 10.1111/bpa.12035 10.1056/NEJMoa1314432 10.1212/WNL.49.3.884 10.1007/s10561-008-9078-z 10.1093/hmg/ddg352 10.1093/hmg/9.17.2539 10.1212/WNL.0b013e3182648b65 10.3389/fncel.2015.00099 10.1126/science.aao4426 10.1016/0092-8674(93)90585-E 10.1089/dna.2018.4476 10.1093/hmg/ddw395 10.1212/WNL.0b013e3182648bfe 10.1523/jneurosci.2443-18.2018 10.1093/hmg/ddaa139 10.1038/ncb808 10.1016/0092-8674(95)90542-1 10.1176/appi.ajp.2007.06081266 10.1093/brain/awq280 10.1016/j.brainresbull.2010.04.003 10.1007/s00401-018-1820-4 10.1126/science.1237758 10.1093/brain/118.3.629 10.1016/j.neuron.2016.02.003 10.1093/hmg/10.17.1775 10.1038/ng1276 10.1093/hmg/ddm054 10.1016/j.neuropsychologia.2006.12.015 10.1111/bpa.12555 10.1212/wnl.0000000000008066 10.3389/fcell.2020.00006 10.1007/s00401-007-0311-9 10.1097/00005072-198511000-00003 10.1038/ng1297-404 10.1007/bf00294370
Acta Neuropathologica; Hickman RA, Faust PL et. al.

Jan 31st, 2021 - Neuropathologic hallmarks of Huntington Disease (HD) include the progressive neurodegeneration of the striatum and the presence of Huntingtin (HTT) aggregates that result from abnormal polyQ expansion of the HTT gene. Whether the pathogenic trinuc...

see more →

News  41 results

Fast Five Quiz: Huntington Disease Signs and Symptoms
https://reference.medscape.com/viewarticle/929783_6

May 26th, 2020 - Initiation of saccadic movements is slow and uncoordinated, and smooth pursuit is interrupted by saccadic intrusions. Patients are unable to inhibit saccades toward a peripheral stimulus when instructed to look in the opposite direction. Eye movem...

Fast Five Quiz: Huntington Disease
https://reference.medscape.com/viewarticle/929780_3

May 26th, 2020 - The initial stages of Huntington disease are often characterized by deficits in short-term memory. This is frequently followed by motor dysfunction and a variety of cognitive changes, including diminished verbal fluency and problems with attention...

Fast Five Quiz: Huntington Disease Signs and Symptoms
https://reference.medscape.com/viewarticle/929783_4

May 26th, 2020 - The clinical presentation of dementia in patients with Huntington disease generally begins with choreic movements or psychiatric symptoms. Generally, global cognitive decline becomes obvious later and eventually expresses itself as a triad of diso...

Fast Five Quiz: Huntington Disease
https://reference.medscape.com/viewarticle/929780_6

May 26th, 2020 - SSRIs are considered first-line treatment for depression in patients with Huntington disease. Bupropion, venlafaxine, nefazodone, and tricyclic antidepressants can also be prescribed. Electroconvulsive therapy may be used in patients with refracto...

Fast Five Quiz: Huntington Disease
https://reference.medscape.com/viewarticle/929780

May 26th, 2020 - Huntington disease (HD) is a genetic neurodegenerative disorder named after Dr George Huntington, who in 1872 reported his observations of dementia and chorea that ran in families on the East End of Long Island, New York. The disease is now known ...

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Patient Education  1 results see all →