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About 2,220 results

ALLMedicine™ Huntington Disease Center

Research & Reviews  797 results

Differentiation of Reversible Hemichorea Due to Vitamin B12 Deficiency From Huntington ...
https://doi.org/10.1097/RLU.0000000000004313
Clinical Nuclear Medicine; Schroeter T, Gühne F et. al.

Jun 14th, 2022 - Vitamin B12 deficiency may present with diverse symptoms, complicating the differential diagnosis. Extrapyramidal movement disorders, for instance, are a rare manifestation of vitamin B12 deficiency. MRI of the brain frequently remains without con...

Cognitive Syndromes Associated With Movement Disorders.
https://doi.org/10.1212/CON.0000000000001134 10.1016/j.parkreldis.2019.02.038 10.1016/bs.irn.2017.05.003 10.1002/mds.25849 10.1017/S1355617717000698 10.1111/j.1750-3639.2009.00369.x 10.1016/j.parkreldis.2015.08.024 10.1002/mds.24893 10.1111/j.1532-5415.2005.53221.x 10.1002/mds.22007 10.1001/jamaneurol.2013.2110 10.1186/s40035-016-0058-0 10.1038/s41588-021-00785-3 10.1093/brain/awp044 10.1001/archneur.65.10.1353 10.1212/WNL.0b013e318225ab77 10.1136/jnnp.2005.085019 10.1002/mds.26161 10.1093/brain/awp245 10.1001/archneurol.2011.17 10.1002/mds.21507 10.1002/mds.26339 10.1016/j.parkreldis.2013.05.007 10.1002/mds.27487 10.5014/ajot.2019.031492 10.1002/mds.20527 10.1136/jnnp-2013-305277 10.1002/mds.20216 10.1002/mds.25866 10.1093/ageing/afi190 10.1212/01.wnl.0000256715.13907.d3 10.1586/14737175.7.11.1499 10.1212/WNL.0000000000008818 10.1212/WNL.0000000000004058 10.1212/WNL.0000000000009323 10.1212/01.wnl.0000436942.55281.47 10.1186/s13195-020-00703-5 10.1080/13543784.2019.1681398 10.1093/arclin/acx093 10.1212/01.wnl.0000324625.00404.15 10.1002/acn3.50987 10.1002/mds.26874 10.1002/mds.25880 10.1002/mds.25872 10.1212/wnl.55.11.1621 10.1001/archpsyc.1983.01790060110016 10.1136/jnnp-2012-303618 10.1212/01.wnl.0000267643.24870.26 10.1016/S1474-4422(17)30157-6 10.1212/WNL.0b013e31827f0fd1 10.1212/wnl.55.9.1368 10.1080/13554790701448192 10.1176/appi.ajp.2015.14121582 10.1136/jnnp-2014-307659 10.1016/S1474-4422(19)30153-X 10.1002/gps.995 10.1016/j.jalz.2009.04.1231 10.1111/jnc.13640 10.1001/jamaneurol.2017.3762 10.1177/1545968317712468 10.1155/2018/4318475 10.1002/mds.27246 10.1002/mds.27665 10.1155/2018/1362053 10.1111/j.1532-5415.2000.tb06891.x 10.1186/s13023-014-0114-8 10.1016/j.parkreldis.2016.02.008 10.1016/j.expneurol.2012.10.020 10.1002/mds.25864 10.1093/arclin/acx086 10.1017/s1355617701711046 10.1016/j.psychres.2012.09.022 10.1016/j.cortex.2016.10.006 10.1002/mds.870110204 10.1212/01.wnl.0000238106.10423.00 10.1016/j.parkreldis.2006.08.005 10.1002/1531-8257(200001)15:1<173::aid-mds1032>3.0.co;2-t 10.1002/mds.20235 10.1212/WNL.0b013e3182735d11 10.24920/21802 10.1001/archneur.1996.00550010095022 10.1016/j.parkreldis.2019.02.016 10.1590/s1980-5764-2016dn1004011 10.1016/B978-0-444-51892-7.00041-3 10.1016/1043-4682(95)90013-6 10.1016/B978-0-444-63233-3.00019-1 10.1111/j.1365-2788.2006.00889.x 10.1007/s00415-005-0796-x 10.1093/brain/121.4.561 10.1016/j.neulet.2018.07.005 10.1146/annurev-neuro-070918-050258 10.1093/brain/awx317 10.2310/JIM.0b013e3181af59c4 10.1136/jmg.2008.065953 10.1037/a0021879 10.1186/1866-1955-6-28 10.1002/ajmg.b.30732 10.1080/13803395.2010.518139 10.1007/s00415-003-0976-5 10.1159/000050755 10.1159/000206850 10.1002/ana.410420615 10.1080/14734220601115924 10.1007/978-3-319-71779-1_1 10.3389/fncel.2018.00429 10.1177/0883073812448230 10.1007/s12311-013-0513-8 10.1016/j.brainresbull.2006.06.001 10.1007/s12311-012-0363-9 10.1111/j.1468-1331.2006.01363.x 10.1186/s13023-018-0785-7 10.1186/1750-1172-5-16 10.1007/s40263-018-0599-0 10.1186/s13023-017-0714-1 10.1093/brain/awr224 10.1097/WNN.0000000000000117 10.1002/mds.1039 10.1002/mds.20659 10.1007/s00702-017-1725-8 10.1002/mds.27121 10.1016/S1474-4422(19)30398-9 10.1136/jnnp.2009.202838 10.1002/mds.21553 10.1038/s41582-019-0302-1 10.1007/s00401-019-02043-7 10.1007/s12311-021-01263-6 10.1007/s11940-018-0487-4
Continuum (Minneapolis, Minn.); Goldman JG, Holden SK

Jun 10th, 2022 - This article reviews the recognition and management of cognitive syndromes in movement disorders, including those with parkinsonism, chorea, ataxia, dystonia, and tremor. Cognitive and motor syndromes are often intertwined in neurologic disorders,...

A prion-like domain of TFEB mediates the co-aggregation of TFEB and mHTT.
https://doi.org/10.1080/15548627.2022.2083857
Autophagy Yang J, Xu H et. al.

Jun 1st, 2022 - The aggregation of mutant HTT (huntingtin; mHTT) is a hallmark of Huntington disease (HD). mHTT aggregates interact and sequester dozens of proteins and affect diverse key cellular functions. Here we report that TFEB (transcription factor EB), a m...

In vitro fertilization with preimplantation genetic testing for monogenetic diseases ve...
https://doi.org/10.1016/j.fertnstert.2022.03.010
Fertility and Sterility; Christensen AA, Parker PB et. al.

May 27th, 2022 - To investigate if in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disease is cost effective for heterozygous individuals with Huntington disease vs. unassisted conception with prenatal diagnosis. Cost-effectiveness ...

Integrated Functional Evaluation of the Cerebellum
https://clinicaltrials.gov/ct2/show/NCT04288128

May 25th, 2022 - Spinocerebellar ataxias (SCAs) are autosomal dominantly inherited neurological disorders, characterized by a predominant atrophy of the cerebellum and the brainstem. The most common forms are caused by abnormal CAG repeat expansions, encoding elon...

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Guidelines  1 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 31st, 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...

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Drugs  2 results see all →

Clinicaltrials.gov  45 results

Integrated Functional Evaluation of the Cerebellum
https://clinicaltrials.gov/ct2/show/NCT04288128

May 25th, 2022 - Spinocerebellar ataxias (SCAs) are autosomal dominantly inherited neurological disorders, characterized by a predominant atrophy of the cerebellum and the brainstem. The most common forms are caused by abnormal CAG repeat expansions, encoding elon...

Open-Label Rollover Study for Continuing Valbenazine Administration for the Treatment of Chorea Associated With Huntington Disease
https://clinicaltrials.gov/ct2/show/NCT04400331

Apr 11th, 2022 - This is a Phase 3, open-label study to evaluate the long-term safety and tolerability of valbenazine, and to provide subjects continued access to valbenazine for the treatment of chorea associated with Huntington disease.

Within Subject Crossover Study of Cognitive Effects of Neflamapimod in Early-Stage Huntington Disease
https://clinicaltrials.gov/ct2/show/NCT03980938

Apr 6th, 2022 - The study was designed as within-subject crossover study. However, due to the Covid19 lockdowns and restrictions on clinical research, and only one subject entered the second crossover period. As a result, the baseline and outcomes are reported by...

Safety and Efficacy of AMT-130 in European Adults With Early Manifest Huntington Disease
https://clinicaltrials.gov/ct2/show/NCT05243017

Feb 18th, 2022 - The aim of the European study is to build upon the safety demonstrated in the first human dose (FHD) randomized, double blind, sham-controlled sequential dose escalation study (CT-AMT-130-01; clinicaltrials.gov NCT04120493) being conducted in the ...

Open-label Extension Study of Pridopidine (ACR16) in the Symptomatic Treatment of Huntington Disease
https://clinicaltrials.gov/ct2/show/NCT01306929

Feb 9th, 2022 - Huntington disease (HD) is a hereditary neurodegenerative disorder causing impairment in movement, behavioral dysfunction and dementia. The movement disorder is mainly characterized by chorea (involuntary movements) and a progressive loss of volun...

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News  42 results

Synthetic Triglyceride Shows Potential in Huntington Disease
https://www.medscape.com/viewarticle/959381

Sep 23rd, 2021 - The synthetic medium-chain triglyceride triheptanoin has shown potential to restore brain energy and decrease caudate atrophy in Huntington disease, and improved motor function for up to a year, according to data presented at the International Con...

Discovery of Schizophrenia Gene Could Advance Research, Therapies
https://www.medscape.com/viewarticle/948198

Mar 26th, 2021 - Todd Lencz, PhD A new genetic mutation in schizophrenia that blocks neuron communication in the brain may lead to novel treatment strategies and improve understanding of the mechanics of this disease. The discovery of this new gene, PCDHA3, could ...

Discovery of schizophrenia gene could advance research, therapies
https://www.mdedge.com/psychiatry/article/237694/schizophrenia-other-psychotic-disorders/discovery-schizophrenia-gene-could
Jennifer Lubell

Mar 25th, 2021 - A new genetic mutation in schizophrenia that blocks neuron communication in the brain may lead to novel treatment strategies and improve understanding of the mechanics of this disease. Dr.

Posttraumatic Stress Disorder-Associated Cognitive Deficits on the Repeatable Battery for the Assessment of Neuropsychological Status in a Veteran Population
https://www.mdedge.com/fedprac/article/234319/ptsd
Nathan Hantke, PhD, ABPP-CN*, Maheen M. Adamson, PhD* et. al.

Jan 7th, 2021 - Posttraumatic stress disorder (PTSD) affects about 10 to 25% of veterans in the US and is associated with reductions in quality of life and poor occupational functioning. 1,2 PTSD is often associated with multiple cognitive deficits that play a rol.

Certifying Medical Cannabis: What APRNs Need to Know
https://www.medscape.com/viewarticle/943249

Jan 5th, 2021 - A patient asks an advanced practice registered nurse (APRN) to approve them for "medical marijuana." What are the clinician's responsibilities? The first hurdle is legal. In 18 states, an APRN has the legal authority to certify a patient to use ma...

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Patient Education  1 results see all →