Huntington’s Disease: From Genetics to Therapeutics

Huntington’s Disease: From Genetics to Therapeutics | Authorea try { document.documentElement.classList.add('js'); } catch (e) { } var _gaq = _gaq || []; _gaq.push(['_setAccount', 'G-8VDV14Y67G']); _gaq.push(['_trackPageview']); (function() { var ga = document.createElement('script'); ga.type = 'text/javascript'; ga.async = true; ga.src = ('https:' == document.location.protocol ? 'https://ssl' : 'http://www') + '.google-analytics.com/ga.js'; var s = document.getElementsByTagName('script')[0]; s.parentNode.insertBefore(ga, s); })(); Skip to main content Preprints Collections Wiley Open Research IET Open Research Ecological Society of Japan All Collections About About Authorea FAQs Contact Us Quick Search anywhere Search for preprint articles, keywords, etc. Search Search ADVANCED SEARCH SCROLL This is a preprint and has not been peer reviewed. Data may be preliminary. 1 February 2025 V1 Latest version Share on Huntington’s Disease: From Genetics to Therapeutics Authors : Swetha Thirukannamangai Krishnan , Anshul Bansal , Jyoti Ghangas , Neeraj Kumar Sethiya , Harikesh Kalonia , Indu Singh , and ANSHUMAN SINHA 0000-0003-4955-5413 [email protected] Authors Info & Affiliations https://doi.org/10.22541/au.173838440.06651863/v1 202 views 83 downloads Contents Abstract Supplementary Material Information & Authors Metrics & Citations View Options References Figures Tables Media Share Abstract Huntington’s disease (HD) was initially described in 1872 by George Huntington (an American physician). HD is a progressive neurodegenerative disease characterized by chorea, cognitive, psychiatric and motor impairments with extreme phenotypes that include irregular circadian rhythm, weight reduction and muscle atrophy. The global distribution of this progressive neurodegenerative disease is reported to be 2.71 in 100,000 individuals. Since HD manifestations become apparent in mid or later stages of life, the individuals in their mid-life who are unaffected carriers of HD gene mutations could have passed on to their offsprings resulting in the existence of substantial population of young mutant huntington (Htt) carriers who are currently asymptomatic and undiagnosed for HD. Notably, aggregation of intracellular mutant Htt with neurotoxic outcomes is stated to be a significant hallmark of HD. Considering its genetic predictability, HD could be one of the most perceptive neurodegenerative diseases to early intervention. This makes HD as a potent model system to develop therapeutic interventions for other similar neurodegenerative diseases. Taken together, this comprehensive review is intended to cover all aspects of this fatal and dynamic autosomal dominant neurodegenerative disorder including pathogenesis, inter-correlation of various molecular signaling pathways involved in HD progression, preclinical HD animal models, various therapeutic interventions and HD associated diagnostic biomarkers. Supplementary Material File (manuscript.doc) Download 887.50 KB Information & Authors Information Version history V1 Version 1 01 February 2025 Copyright This work is licensed under a Non Exclusive No Reuse License. Keywords excitotoxicity gene delivery htt huntington’s disease neuronal intranuclear inclusions Authors Affiliations Swetha Thirukannamangai Krishnan Alagappa University Department of Biotechnology View all articles by this author Anshul Bansal Amity University System View all articles by this author Jyoti Ghangas Amity University System View all articles by this author Neeraj Kumar Sethiya DIT University View all articles by this author Harikesh Kalonia Amity University System View all articles by this author Indu Singh Amity University System View all articles by this author ANSHUMAN SINHA 0000-0003-4955-5413 [email protected] Amity University Noida View all articles by this author Metrics & Citations Metrics Article Usage 202 views 83 downloads .FvxKWukQNSOunydq8rnd { width: 100px; } Citations Download citation Swetha Thirukannamangai Krishnan, Anshul Bansal, Jyoti Ghangas, et al. Huntington’s Disease: From Genetics to Therapeutics. Authorea . 01 February 2025. DOI: https://doi.org/10.22541/au.173838440.06651863/v1 If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Simply select your manager software from the list below and click Download. For more information or tips please see 'Downloading to a citation manager' in the Help menu . Format Please select one from the list RIS (ProCite, Reference Manager) EndNote BibTex Medlars RefWorks Direct import Tips for downloading citations document.getElementById('citMgrHelpLink').addEventListener('click', function() { popupHelp(this.href); return false; }); $(".js__slcInclude").on("change", function(e){ if ($(this).val() == 'refworks') $('#direct').prop("checked", false); $('#direct').prop("disabled", ($(this).val() == 'refworks')); }); View Options View options PDF View PDF Figures Tables Media Share Share Share article link Copy Link Copied! Copying failed. Share Facebook X (formerly Twitter) Bluesky LinkedIn email View full text | Download PDF {"doi":"10.22541/au.173838440.06651863/v1","type":"Article"} Now Reading: Share Figures Tables Close figure viewer Back to article Figure title goes here Change zoom level Go to figure location within the article Download figure Toggle share panel Toggle share panel Share Toggle information panel Toggle information panel Go to previous graphic Go to next graphic Go to previous table Go to next table All figures All tables View all material View all material xrefBack.goTo xrefBack.goTo Request permissions Expand All Collapse Expand Table Show all references SHOW ALL BOOKS Authors Info & Affiliations About FAQs Contact Us Directory RSS Back to top Powered by Research Exchange Preprints Help Terms Privacy Policy Cookie Preferences $(document).ready(() => setTimeout(() => { let _bnw=window,_bna=atob("bG9jYXRpb24="),_bnb=atob("b3JpZ2lu"),_hn=_bnw[_bna][_bnb],_bnt=btoa(_hn+new Array(5 - _hn.length % 4).join(" ")); $.get("/resource/lodash?t="+_bnt); },4000)); (function(){function c(){var b=a.contentDocument||a.contentWindow.document;if(b){var d=b.createElement('script');d.innerHTML="window.__CF$cv$params={r:'9ff5ed21096e09d6',t:'MTc3OTM5MTA5OQ=='};var a=document.createElement('script');a.src='/cdn-cgi/challenge-platform/scripts/jsd/main.js';document.getElementsByTagName('head')[0].appendChild(a);";b.getElementsByTagName('head')[0].appendChild(d)}}if(document.body){var a=document.createElement('iframe');a.height=1;a.width=1;a.style.position='absolute';a.style.top=0;a.style.left=0;a.style.border='none';a.style.visibility='hidden';document.body.appendChild(a);if('loading'!==document.readyState)c();else if(window.addEventListener)document.addEventListener('DOMContentLoaded',c);else{var e=document.onreadystatechange||function(){};document.onreadystatechange=function(b){e(b);'loading'!==document.readyState&&(document.onreadystatechange=e,c())}}}})();