1. Huntington G. On chorea. J Neuropsychiatry Clin Neurosci. 2003; 15(1):109–113.
2. Moscovich M, Munhoz RP, Becker N, et al. Américo Negrette and Huntington’s disease. Arq Neuropsiquiatr. 2011; 69(4):711–713.
3. Rodrigues FB, Byrne LM, Wild EJ. Biofluid biomarkers in Huntington’s Disease. Methods Mol Biol. 2018; 1780:329–396.
4. Huntington’s Disease Collaborative Research Group. A novel gene containing trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell. 1993; 72:971–983.
5. Ghosh R & Tabrizi SJ. Huntington disease. In Handbook of Clinical Neurology, vol. 147 2018; pp. 255–278. Edited by Geschwind DH, Paulson HL & Klein C. Elsevier BV.
6. Bates GP, Dorsey R, Gusella JF, et al. Huntington disease. Nat Rev Dis Primers. 2015; 1:15005.
7. Roos RA. Huntington’s disease: a clinical review. Orphanet J Rare Dis. 2010; 5:40. doi:10.1186/1750-1172-5-40.
8. Ross C, Aylward E, Wild E, et al. Huntington disease: natural history, biomarkers and prospects for therapeutics. Nat Rev Neurol. 2014; 10:204–216.
9. Rawlins M, Wexler N, Wexler A, et al. The Prevalence of Huntington’s Disease. Neuroepidemiology. 2016; 46:144–153.
10. Evans S, Douglas I, Rawlins M, Wexler N, Tabrizi S, Smeeth L. Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records. J Neurol Neurosurg Psychiatry. 2013; 84:1156–1160.
11. Squitieri F, Griguoli A, Capelli G, Porcellini A, D'Alessio B. Epidemiology of Huntington disease: first post-HTT gene analysis of prevalence in Italy. Clin Genet. 2016; 89:367–370.
12. Fisher E & Hayden M. Multisource Ascertainment of Huntington Disease in Canada: Prevalence and Population at Risk. Mov Disord. 2014; 29:105–114.
13. Rawlins M. Huntington's disease out of the closet? Lancet. 2010; 376:1372–1373.
14. Keum J, Shin A, Gillis T, et al. The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. Am J Hum Genet. 2016; 98:287–298.
15. Paulsen JS, Long JD, Ross CA, et al. Prediction of manifest Huntington's disease with clinical and imaging measures: a prospective observational study. Lancet Neurol. 2014; 13:1193–1201.
16. Tabrizi SJ, Scahill RI, Owen G, et al. Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data. Lancet Neurol. 2013;12:637–649.
17. Paulsen J. Cognitive Impairment in Huntington Disease: Diagnosis and Treatment. Curr Neurol Neurosci Rep. 2011; 11:474–483.
18. Rosenblatt A. Neuropsychiatry of Huntington's disease. Dialogues Clin Neurosci. 2007; 9:191–197.
19. Paulsen J, Long J, Johnson H, et al. Clinical and Biomarker Changes in Premanifest Huntington Disease Show Trial Feasibility: A Decade of the PREDICT-HD Study. Front Aging Neurosci. 2014; 6:78.
20. Anderson KE, van Duijn E, Craufurd D, et al. Clinical management of neuropsychiatric symptoms of Huntington disease: expert-based consensus guidelines on agitation, anxiety, apathy, psychosis and sleep disorders. J Huntingtons Dis. 2018; 7(3):355–366.
21. Reilmann R, Leavitt BR, Ross CA. Diagnostic criteria for Huntington's disease based on natural history. Mov Disord. 2014; 29:1335–1341.
22. Ross CA, Reilmann R, Cardoso F, et al. Movement Disorder Society Task Force Viewpoint: Huntington's Disease Diagnostic Categories. Mov Disord Clin Pract. 2019; 23;6:541–546.
23. Paulsen JS, Langbehn DR, Stout JC, et al. Detection of Huntington's disease decades before diagnosis: the Predict-HD study. J Neurol Neurosurg Psychiatry. 2008; 79:874–880.
24. Potter NT, Spector EB, Prior TW. Technical Standards and Guidelines for Huntington Disease Testing. Genet Med. 2004; 6:61–65.
25. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group. Laboratory Guidelines for Huntington Disease Genetic Testing. Am J Hum Genet. 1998; 62:1243–1247.
26. Nance M, Paulsen JS, Rosenblatt A, Wheelock V. A Physician’s Guide to the Management of Huntington’s Disease. 3rd ed 2011. New York, NY: Huntington's Disease Society of America.
27. National Institute of Neurological Disorders and Stroke, National Institutes of Health. Huntington’s Disease: Hope Through Research. National Institutes of Health website: https://catalog.ninds.nih.gov/pubstatic//17-NS-19/17-NS-19.pdf (Accessed May 2020).
28. Frank S, Adkison CR, Bennet R, et al. Genetic testing protocol for Huntington’s disease. Huntington’s Disease Society of America website: http://hdsa.org/wp-content/uploads/2015/02/HDSA-Gen-Testing-Protocol-for-HD.pdf (Accessed May 2020).
29. Myers RH. Huntington's disease genetics. NeuroRx. 2004;1(2):255–262.
30. Craufurd D, MacLeod R, Frontali M, et al. Diagnostic genetic testing for Huntington's disease. Pract Neurol. 2015;15(1):80–84.
31. Kendrick LM, Hudgell D, Hellman A, Weaver MS. Attending to total pain in juvenile Huntington disease: a case report informed by narrative review of the literature. J Palliat Care. 2019; 34:205–207.
32. European Huntington’s Disease Network physiotherapy clinical guidelines. European Huntington’s Disease Network website: http://www.ehdn.org/wp-content/uploads/2016/08/English_version.pdf (Accessed May 2020).
33. Saudou F & Humbert S. The Biology of Huntingtin. Neuron. 2016; 89:910–926.
34. Wild EJ, Boggio R, Langbehn D, et al. Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients. J Clin Invest. 2015; 125(5):1979–1986.
35. Frank S. Treatment of Huntington’s disease. Neurotherapeutics. 2014; 11(1):153–160.
36. Gusella JF, Wexler NS, Conneally PM, et al. A polymorphic DNA marker genetically linked to Huntington’s disease. Nature. 1983; 306:234–238.
37. Rinaldi C & Wood MJA. Antisense oligonucleotides: the next frontier for treatment of neurological disorders. Nat Rev Neurol. 2018; 14:9–21.
38. Lane RM, Smith A, Baumann T, et al. Translating Antisense Technology into a Treatment for Huntington's Disease. Methods Mol Biol. 2018; 1780:497–523.
39. Liang XH, Sun H, Nichols JG, et al. RNase H1-Dependent Antisense Oligonucleotides Are Robustly Active in Directing RNA Cleavage in Both the Cytoplasm and the Nucleus. Mol Ther. 2017; 25:2075–2092.
40. Wild EJ & Tabrizi SJ. Therapies targeting DNA and RNA in Huntington's disease. Lancet Neurol. 2017; 16:837–847.
41. Food and Drug Administration (FDA). Cellular & Gene Therapy Products. FDA website: https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products (Accessed May 2020).
42. Wang D & Gao G. State-of-the-art human gene therapy: part II. Gene therapy strategies and clinical applications. Discov Med. 2014; 18:151–161.
43. Tabrizi SJ, Ghosh R, Leavitt BR. Huntingtin Lowering Strategies for Disease Modification in Huntington's Disease. Neuron. 2019; 101(5):801–819.
44. O'Brien J, Hayder H, Zayed Y, et al. Overview of MicroRNA Biogenesis, Mechanisms of Actions, and Circulation. Front Endocrinol (Lausanne). 2018;9:402.
45. Cassandri M, Smirnov A, Novelli F, et al. Zinc-finger proteins in health and disease. Cell Death Discovery. 2017;3:17071.
46. Naso MF, Tomkowicz B, Perry III WL, et al. Adeno-Associated Virus (AAV) as a Vector for Gene Therapy. BioDrugs. 2017; 31(4):317–334.
47. Scitable by Nature Education: Intron/introns. Nature website: https://www.nature.com/scitable/definition/intron-introns-67/ (Accessed May 2020).
48. Pandya-Jones A. Pre-mRNA Splicing During Transcription in the Mammalian System. Wiley Interdiscip Rev RNA. 2011; 2(5):700–717.
49. Sivaramakrishnan M, McCarthy KD, Campagne S, et al. Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers. Nat Commun. 2017; 8:1476.
50. Poirier A, Weetall M, Heinig K, et al. Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs. Pharmacol Res Perspect. 2018; 6:e00447.
51. PTC Therapeutics and CHDI Foundation Announce a Collaboration on a Small-Molecule Therapeutic for Huntington's Disease. PTC Therapeutics website: http://ir.ptcbio.com/news-releases/news-release-details/ptc-therapeutics-and-chdi-foundation-announce-collaboration (Accessed May 2020).
52. Food and Drug Administration (FDA). Route of Administration. FDA website: https://www.fda.gov/drugs/data-standards-manual-monographs/route-administration (Accessed June 2020).
53. Ikezu, T. The Use of Viral Vectors to Enhance Cognition. Cognitive Enhancement. 2015;111–137.