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About 3,953 results

ALLMedicine™ Huntington Disease Center

Research & Reviews  1,933 results

Systemic manifestation and contribution of peripheral tissues to Huntington's disease p...
https://doi.org/10.1016/j.arr.2021.101358
Ageing Research Reviews; Chuang CL, Demontis F

May 12th, 2021 - Huntington disease (HD) is an autosomal dominant neurodegenerative disease that is caused by expansion of cytosine/adenosine/guanine repeats in the huntingtin (HTT) gene, which leads to a toxic, aggregation-prone, mutant HTT-polyQ protein. Beyond ...

Lack of association of somatic CAG repeat expansion with striatal neurodegeneration in ...
https://doi.org/10.1093/hmg/ddab129
Human Molecular Genetics; Bai D, Yin P et. al.

May 5th, 2021 - Our previous work has established a huntingtin knock-in (KI) pig model that displays striatal neuronal loss, allowing us to examine if somatic CAG expansion in striatum accounts for the preferential neurodegeneration in Huntington disease (HD). We...

Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and ...
https://doi.org/10.1038/s41431-021-00866-1 10.1002/ana.22598 10.1002/ana.1124 10.1038/ng760 10.1152/physiolgenomics.00017.2009 10.1002/mds.21672 10.1016/j.ajhg.2019.01.013 10.1093/brain/awz248 10.1016/j.ajhg.2019.02.016 10.1006/bbrc.2000.3011 10.1002/ana.21081 10.1016/j.molmed.2014.02.004 10.1002/ajmg.a.36569 10.1002/aur.1536 10.1016/j.celrep.2017.12.056 10.1016/j.ajhg.2016.02.015 10.1002/mds.27286 10.1002/mds.27523
European Journal of Human Genetics : EJHG; Bourinaris T, Athanasiou A et. al.

Apr 7th, 2021 - Junctophilin-3 belongs to a triprotein junctional complex implicated in the regulation of neuronal excitability and involved in the formation of junctional membrane structures between voltage-gated ion channels and endoplasmic (ryanodine) reticula...

The Sigma-1 Receptor Mediates Pridopidine Rescue of Mitochondrial Function in Huntingto...
https://doi.org/10.1007/s13311-021-01022-9 10.1016/j.cell.2007.08.036 10.1016/j.tips.2016.01.003
Neurotherapeutics : the Journal of the American Society F... Naia L, Ly P et. al.

Apr 2nd, 2021 - Pridopidine is a selective Sigma-1 receptor (S1R) agonist in clinical development for Huntington disease (HD) and amyotrophic lateral sclerosis. S1R is a chaperone protein localized in mitochondria-associated endoplasmic reticulum (ER) membranes, ...

Late-onset Huntington disease: An Italian cohort.
https://doi.org/10.1016/j.jocn.2020.12.025
Journal of Clinical Neuroscience : Official Journal of Th... Volpi E, Terenzi F et. al.

Mar 29th, 2021 - Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG expansion greater than 35 triplets in the IT-15 gene, with a clinical onset usually in the forties. Late-onset form of HD is defined as disease onset aft...

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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  1,973 results

Systemic manifestation and contribution of peripheral tissues to Huntington's disease p...
https://doi.org/10.1016/j.arr.2021.101358
Ageing Research Reviews; Chuang CL, Demontis F

May 12th, 2021 - Huntington disease (HD) is an autosomal dominant neurodegenerative disease that is caused by expansion of cytosine/adenosine/guanine repeats in the huntingtin (HTT) gene, which leads to a toxic, aggregation-prone, mutant HTT-polyQ protein. Beyond ...

Lack of association of somatic CAG repeat expansion with striatal neurodegeneration in ...
https://doi.org/10.1093/hmg/ddab129
Human Molecular Genetics; Bai D, Yin P et. al.

May 5th, 2021 - Our previous work has established a huntingtin knock-in (KI) pig model that displays striatal neuronal loss, allowing us to examine if somatic CAG expansion in striatum accounts for the preferential neurodegeneration in Huntington disease (HD). We...

Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and ...
https://doi.org/10.1038/s41431-021-00866-1 10.1002/ana.22598 10.1002/ana.1124 10.1038/ng760 10.1152/physiolgenomics.00017.2009 10.1002/mds.21672 10.1016/j.ajhg.2019.01.013 10.1093/brain/awz248 10.1016/j.ajhg.2019.02.016 10.1006/bbrc.2000.3011 10.1002/ana.21081 10.1016/j.molmed.2014.02.004 10.1002/ajmg.a.36569 10.1002/aur.1536 10.1016/j.celrep.2017.12.056 10.1016/j.ajhg.2016.02.015 10.1002/mds.27286 10.1002/mds.27523
European Journal of Human Genetics : EJHG; Bourinaris T, Athanasiou A et. al.

Apr 7th, 2021 - Junctophilin-3 belongs to a triprotein junctional complex implicated in the regulation of neuronal excitability and involved in the formation of junctional membrane structures between voltage-gated ion channels and endoplasmic (ryanodine) reticula...

The Sigma-1 Receptor Mediates Pridopidine Rescue of Mitochondrial Function in Huntingto...
https://doi.org/10.1007/s13311-021-01022-9 10.1016/j.cell.2007.08.036 10.1016/j.tips.2016.01.003
Neurotherapeutics : the Journal of the American Society F... Naia L, Ly P et. al.

Apr 2nd, 2021 - Pridopidine is a selective Sigma-1 receptor (S1R) agonist in clinical development for Huntington disease (HD) and amyotrophic lateral sclerosis. S1R is a chaperone protein localized in mitochondria-associated endoplasmic reticulum (ER) membranes, ...

Late-onset Huntington disease: An Italian cohort.
https://doi.org/10.1016/j.jocn.2020.12.025
Journal of Clinical Neuroscience : Official Journal of Th... Volpi E, Terenzi F et. al.

Mar 29th, 2021 - Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG expansion greater than 35 triplets in the IT-15 gene, with a clinical onset usually in the forties. Late-onset form of HD is defined as disease onset aft...

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 →