Huntington disease


Key articles

Walker FO. Huntington's disease. Lancet. 2007 Jan 20;369(9557):218-28. Abstract

Hayden MR. Huntington's chorea. New York, NY: Springer; 1981.

Phillips W, Shannon KM, Barker RA. The current clinical management of Huntington's disease. Mov Disord. 2008 Aug 15;23(11):1491-504. Abstract

Bonelli RM, Hofmann P. A systematic review of the treatment studies in Huntington's disease since 1990. Expert Opin Pharmacother. 2007 Feb;8(2):141-53. Abstract

Novak MJ, Tabrizi SJ. Huntington's disease. BMJ. 2010 Jun 30;340:c3109. Abstract

Fasano A, Bentivoglio AR. Tetrabenazine. Expert Opin Pharmacother. 2009 Dec;10(17):2883-96. Abstract

Quinn L, Kegelmeyer D, Kloos A, et al. Clinical recommendations to guide physical therapy practice for Huntington disease. Neurology. 2020 Feb 4;94(5):217-28.Full text  Abstract

Bonelli RM, Wenning GK. Pharmacological management of Huntington's disease: an evidence-based review. Curr Pharm Des. 2006;12(21):2701-20. Abstract

Reference articles

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20. Cepeda C, Wu N, André VM, et al. The corticostriatal pathway in Huntington's disease. Prog Neurobiol. 2007 Apr;81(5-6):253-71.Full text  Abstract

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23. Walker FO. Huntington's disease. Semin Neurol. 2007 Apr;27(2):143-50. Abstract

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29. Tibben A. Genetic counseling and presymptomatic testing. In: Bates G, Harper P, Jones L, eds. Huntington's disease. New York: Oxford University Press; 2002:198-250.

30. MacLeod R, Tibben A, Frontali M, et al; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. Recommendations for the predictive genetic test in Huntington's disease. Clin Genet. 2013 Mar;83(3):221-31. Abstract

31. Losekoot M, van Belzen MJ, Seneca S, et al; European Molecular Genetic Quality Network (EMQN). EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease. Eur J Hum Genet. 2013 May;21(5):480-6.Full text  Abstract

32. Blekher T, Johnson SA, Marshall J, et al. Saccades in presymptomatic and early stages of Huntington disease. Neurology. 2006 Aug 8;67(3):394-9. Abstract

33. Gordon AM, Quinn L, Reilmann R, et al. Coordination of prehensile forces during precision grip in Huntington's disease. Exp Neurol. 2000 May;163(1):136-48. Abstract

34. Hoff JI, van Hilten BJ, Roos RA. A review of the assessment of dyskinesias. Mov Disord. 1999 Sep;14(5):737-43. Abstract

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36. Dobson-Stone C, Velayos-Baeza A, Filippone LA, et al. Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol. 2004 Aug;56(2):299-302. Abstract

37. Breedveld GJ, Percy AK, MacDonald ME, et al. Clinical and genetic heterogeneity in benign hereditary chorea. Neurology. 2002 Aug 27;59(4):579-84. Abstract

38. Schrag A, Quinn NP, Bhatia KP, et al. Benign hereditary chorea - entity or syndrome? Mov Disord. 2000 Mar;15(2):280-8. Abstract

39. Hewer E, Danek A, Schoser BG, et al. McLeod myopathy revisited: more neurogenic and less benign. Brain. 2007 Dec;130(Pt 12):3285-96. Abstract

40. Stevanin G, Fujigasaki H, Lebre AS, et al. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain. 2003 Jul;126(Pt 7):1599-603.Full text  Abstract

41. Schöls L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004 May;3(5):291-304. Abstract

42. Laplanche JL, Hachimi KH, Durieux I, et al. Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. Brain. 1999 Dec;122 ( Pt 12):2375-86.Full text  Abstract

43. Al-Tahan AY, Divakaran MP, Kambouris M, et al. A novel autosomal recessive 'Huntington's disease-like' neurodegenerative disorder in a Saudi family. Saudi Med J. 1999 Jan;20(1):85-9. Abstract

44. Kambouris M, Bohlega S, Al-Tahan A, et al. Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am J Hum Genet. 2000 Feb;66(2):445-52.Full text  Abstract

45. Hartig MB, Hörtnagel K, Garavaglia B, et al. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol. 2006 Feb;59(2):248-56. Abstract

46. Chinnery PF, Crompton DE, Birchall D, et al. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain. 2007 Jan;130(Pt 1):110-9.Full text  Abstract

47. Isaacs JD, Rakshi J, Baker R, et al. Chorea associated with thyroxine replacement therapy. Mov Disord. 2005 Dec;20(12):1656-7. Abstract

48. Dike GL. Chorea gravidarum: a case report and review. Md Med J. 1997 Sep;46(8):436-9. Abstract

49. Cardoso F, Eduardo C, Silva AP, et al. Chorea in fifty consecutive patients with rheumatic fever. Mov Disord. 1997 Sep;12(5):701-3. Abstract

50. Font J, Cervera R, Espinosa G, et al. Systemic lupus erythematosus (SLE) in childhood: analysis of clinical and immunological findings in 34 patients and comparison with SLE characteristics in adults. Ann Rheum Dis. 1998 Aug;57(8):456-9.Full text  Abstract

51. Cervera R, Asherson RA, Font J, et al. Chorea in the antiphospholipid syndrome. Clinical, radiologic, and immunologic characteristics of 50 patients from our clinics and the recent literature. Medicine (Baltimore). 1997 May;76(3):203-12. Abstract

52. Machado A, Chien HF, Deguti MM, et al. Neurological manifestations in Wilson's disease: report of 119 cases. Mov Disord. 2006 Dec;21(12):2192-6. Abstract

53. Shoulson I, Fahn S. Huntington disease: clinical care and evaluation. Neurology. 1979 Jan;29(1):1-3. Abstract

54. Huntington Study Group. Unified Huntington's Disease Rating Scale: reliability and consistency. Mov Disord. 1996 Mar;11(2):136-42. Abstract

55. Ross CA, Reilmann R, Cardoso F, et al. Movement Disorder Society Task Force Viewpoint: Huntington's Disease Diagnostic Categories. Mov Disord Clin Pract. 2019 Sep;6(7):541-6.Full text  Abstract

56. Phillips W, Shannon KM, Barker RA. The current clinical management of Huntington's disease. Mov Disord. 2008 Aug 15;23(11):1491-504. Abstract

57. Bonelli RM, Hofmann P. A systematic review of the treatment studies in Huntington's disease since 1990. Expert Opin Pharmacother. 2007 Feb;8(2):141-53. Abstract

58. Adam OR, Jankovic J. Symptomatic treatment of Huntington disease. Neurotherapeutics. 2008 Apr;5(2):181-97. Abstract

59. Novak MJ, Tabrizi SJ. Huntington's disease. BMJ. 2010 Jun 30;340:c3109. Abstract

60. Priller J, Ecker D, Landwehrmeyer B, et al. A Europe-wide assessment of current medication choices in Huntington's disease. Mov Disord. 2008 Sep 15;23(12):1788. Abstract

61. Mestre T, Ferreira J, Coelho MM, et al. Therapeutic interventions for symptomatic treatment in Huntington's disease. Cochrane Database Syst Rev. 2009 Jul 8;(3):CD006456.Full text  Abstract

62. Mestre TA, Ferreira JJ. An evidence-based approach in the treatment of Huntington's disease. Parkinsonism Relat Disord. 2012 May;18(4):316-20. Abstract

63. Bonelli RM. Mirtazapine in suicidal Huntington's disease. Ann Pharmacother. 2003 Mar;37(3):452. Abstract

64. Ford MF. Treatment of depression in Huntington's disease with monoamine oxidase inhibitors. Br J Psychiatry. 1986 Nov;149:654-6. Abstract

65. Folstein S, Abbott MH, Chase GA, et al. The association of affective disorder with Huntington's disease in a case series and in families. Psychol Med. 1983 Aug;13(3):537-42. Abstract

66. Ranen NG, Peyser CE, Folstein SE. ECT as a treatment for depression in Huntington's disease. J Neuropsychiatry Clin Neurosci. 1994 Spring;6(2):154-9. Abstract

67. Lewis CF, DeQuardo JR, Tandon R. ECT in genetically confirmed Huntington's disease. J Neuropsychiatry Clin Neurosci. 1996 Spring;8(2):209-10. Abstract

68. Beale MD, Kellner CH, Gurecki P, et al. ECT for the treatment of Huntington's disease: a case study. Convuls Ther. 1997 Jun;13(2):108-12. Abstract

69. van Duijn E, Roos RA, Smarius LJ, et al. Electroconvulsive therapy in patients with Huntington's disease and depression [in Dutch]. Ned Tijdschr Geneeskd. 2005 Sep 24;149(39):2141-4. Abstract

70. Bhandary AN, Masand PS. Buspirone in the management of disruptive behaviors due to Huntington's disease and other neurological disorders. Psychosomatics. 1997 Jul-Aug;38(4):389-91. Abstract

71. Byrne A, Martin W, Hnatko G. Beneficial effects of buspirone therapy in Huntington's disease. Am J Psychiatry. 1994 Jul;151(7):1097. Abstract

72. Royuela Rico A, Gil-Verona JA, Macías Fernández JA. A case of obsessive symptoms in Huntington's disease [in Spanish]. Actas Esp Psiquiatr. 2003 Nov-Dec;31(6):367-70. Abstract

73. De Marchi N, Daniele F, Ragone MA. Fluoxetine in the treatment of Huntington's disease. Psychopharmacology (Berl). 2001 Jan 1;153(2):264-6. Abstract

74. Paleacu D, Anca M, Giladi N. Olanzapine in Huntington's disease. Acta Neurol Scand. 2002 Jun;105(6):441-4. Abstract

75. Squitieri F, Cannella M, Piorcellini A, et al. Short-term effects of olanzapine in Huntington disease. Neuropsychiatry Neuropsychol Behav Neurol. 2001 Jan;14(1):69-72. Abstract

76. Lipe H, Schultz A, Bird TD. Risk factors for suicide in Huntingtons disease: a retrospective case controlled study. Am J Med Genet. 1993 Dec 15;48(4):231-3. Abstract

77. Anderson KE, Marshall FJ. Behavioral symptoms associated with Huntington's disease. Adv Neurol. 2005;96:197-208. Abstract

78. European Medicines Agency. New measures to avoid valproate exposure in pregnancy endorsed. EMA/145600/2018. March 2018 [internet publication].Full text

79. Leonard DP, Kidson MA, Brown JG, et al. A double blind trial of lithium carbonate and haloperidol in Huntington's chorea. Aust N Z J Psychiatry. 1975 Jun;9(2):115-8. Abstract

80. Young AB, Shoulson I, Penney JB, et al. Huntington's disease in Venezuela: neurologic features and functional decline. Neurology. 1986 Feb;36(2):244-9. Abstract

81. Mahant N, McCusker EA, Byth K, et al. Huntington's disease: clinical correlates of disability and progression. Neurology. 2003 Oct 28;61(8):1085-92. Abstract

82. Reilmann R. Pharmacological treatment of chorea in Huntington's disease - good clinical practice versus evidence-based guideline. Mov Disord. 2013 Jul;28(8):1030-3.Full text  Abstract

83. Fasano A, Bentivoglio AR. Tetrabenazine. Expert Opin Pharmacother. 2009 Dec;10(17):2883-96. Abstract

84. Chen JJ, Ondo WG, Dashtipour K, et al. Tetrabenazine for the treatment of hyperkinetic movement disorders: a review of the literature. Clin Ther. 2012 Jul;34(7):1487-504. Abstract

85. Huntington Study Group. Tetrabenazine as antichorea therapy in Huntington disease: a randomized controlled trial. Neurology. 2006 Feb 14;66(3):366-72. Abstract

86. Frank S. Tetrabenazine as anti-chorea therapy in Huntington disease: an open-label continuation study. Huntington Study Group/TETRA-HD Investigators. BMC Neurol. 2009 Dec 18;9:62.Full text  Abstract

87. Lucetti C, Gambaccini G, Bernardini S, et al. Amantadine in Huntington's disease: open-label video-blinded study. Neurol Sci. 2002 Sep;23 Suppl 2:S83-4. Abstract

88. Lucetti C, Del Dotto P, Gambaccini G, et al. IV amantadine improves chorea in Huntington's disease: an acute randomized, controlled study. Neurology. 2003 Jun 24;60(12):1995-7. Abstract

89. Verhagen Metman L, Morris MJ, Farmer C, et al. Huntington's disease: a randomized, controlled trial using the NMDA-antagonist amantadine. Neurology. 2002 Sep 10;59(5):694-9. Abstract

90. Huntington Study Group. Dosage effects of riluzole in Huntington's disease: a multicenter placebo-controlled study. Neurology. 2003 Dec 9;61(11):1551-6. Abstract

91. Heckmann JM, Legg P, Sklar D, et al. IV amantadine improves chorea in Huntington's disease: an acute randomized, controlled study. Neurology. 2004 Aug 10;63(3):597-8. Abstract

92. Reuter I, Hu MT, Andrews TC, et al. Late onset levodopa responsive Huntington's disease with minimal chorea masquerading as Parkinson plus syndrome. J Neurol Neurosurg Psychiatry. 2000 Feb;68(2):238-41.Full text  Abstract

93. Racette BA, Perlmutter JS. Levodopa responsive parkinsonism in an adult with Huntington's disease. J Neurol Neurosurg Psychiatry. 1998 Oct;65(4):577-9.Full text  Abstract

94. Bird MT, Paulson GW. The rigid form of Huntington's chorea. Neurology. 1971 Mar;21(3):271-6. Abstract

95. Li Y, Hai S, Zhou Y, et al. Cholinesterase inhibitors for rarer dementias associated with neurological conditions. Cochrane Database Syst Rev. 2015 Mar 3;(3):CD009444.Full text  Abstract

96. Beglinger LJ, Adams WH, Langbehn D, et al. Results of the citalopram to enhance cognition in Huntington disease trial. Mov Disord. 2014 Mar;29(3):401-5. Abstract

97. Quinn L, Kegelmeyer D, Kloos A, et al. Clinical recommendations to guide physical therapy practice for Huntington disease. Neurology. 2020 Feb 4;94(5):217-28.Full text  Abstract

98. Cook C, Page K, Wagstaff A, et al; European Huntington’s Disease Network. Occupational therapy for people with Huntington’s disease: best practice guidelines. Jan 2012 [internet publication].Full text

99. Quinn L, Busse M; European Huntington’s Disease Network. Physiotherapy clinical guidelines for Huntington’s disease. Neurodegen Dis Manage. 2012;2(1):21-31.Full text

100. Hamilton A, Ferm U, Heemskerk AW, et al; European Huntington’s Disease Network. Management of speech, language and communication difficulties in Huntington’s disease. Neurodegen Dis Manage. 2012;2(1):67-77.Full text

101. Brotherton A, Campos L, Rowell A, et al; Nutritional management of individuals with Huntington’s disease: nutritional guidelines. Neurodegen Dis Manage. 2012;2(1):33-43.Full text

102. Taylor LP, Besbris JM, Graf WD, et al. Clinical guidance in neuropalliative care: an AAN position statement. Neurology. 2022 Mar 8;98(10):409-16.Full text  Abstract

103. Tarolli CG, Chesire AM, Biglan KM. Palliative care in Huntington disease: personal reflections and a review of the literature. Tremor Other Hyperkinet Mov (N Y). 2017;7:454.Full text  Abstract

104. Khalil H, Quinn L, van Deursen R, et al. What effect does a structured home-based exercise programme have on people with Huntington's disease? A randomized, controlled pilot study. Clin Rehabil. 2013 Jul;27(7):646-58. Abstract

105. McGarry A, Auinger P, Kieburtz K, et al. Additional safety and exploratory efficacy data at 48 and 60 months from Open-HART, an open-label extension study of pridopidine in Huntington disease. J Huntingtons Dis. 2020;9(2):173-84. Abstract

106. McGarry A, Leinonen M, Kieburtz K, et al. Effects of pridopidine on functional capacity in early-stage participants from the PRIDE-HD study. J Huntingtons Dis. 2020;9(4):371-80.Full text  Abstract

107. Pridopidine's outcome on function in Huntington disease, PROOF- HD. indentifier: NCT04556656. Nov 2021 [internet publication].Full text

108. Frank S, Stamler D, Sung V, et al. Deutetrabenazine effect on total motor score in patients with Huntington disease (First-HD) (S27.008). Neurology. 2016 Apr 5;86(16 Suppl):S27.008.Full text

109. Claassen D, Frank S, Stamler D, et al. Rating swallowing function in patients with Huntington disease enrolled in the First-HD study (S25.006). Neurology. 2016 Apr 5;86(16 Suppl):S25.006.Full text

110. Tabrizi SJ, Leavitt BR, Landwehrmeyer GB, et al. Targeting Huntingtin expression in patients with Huntington's disease. N Engl J Med. 2019 Jun 13;380(24):2307-16.Full text  Abstract

111. Rodrigues FB, Quinn L, Wild EJ. Huntington's disease clinical trials corner: January 2019. J Huntingtons Dis. 2019;8(1):115-25.Full text  Abstract

112. Safety and Proof-of-Concept (POC) study with AMT-130 in adults with early manifest Huntington disease. identifier NCT04120493. 10 Dec 2021 [internet publication].Full text

113. Huntington Study Group Reach2HD Investigators. Safety, tolerability, and efficacy of PBT2 in Huntington's disease: a phase 2, randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2015 Jan;14(1):39-47. Abstract

114. Raptor Pharmaceuticals. News release: Raptor Pharmaceuticals announces phase 2/3 clinical trial results with cysteamine (RP103) in Huntington’s disease. Novato, CA: Raptor Pharmaceuticals, 2014.

115. Reilmann R, Squitieri F, Priller J, et al. Safety and tolerability of selisistat for the treatment of Huntington’s disease: results from a randomized, double-blind, placebo-controlled phase II trial (S47.004). Neurology. 2014 Apr 8;82(10 Suppl):S47.004.Full text

116. Niccolini F, Haider S, Reis Marques T, et al. Altered PDE10A expression detectable early before symptomatic onset in Huntington's disease. Brain. 2015 Oct;138(Pt 10):3016-29.Full text  Abstract

117. Beaumont V, Zhong S, Lin H, et al. Phosphodiesterase 10A inhibition improves cortico-basal ganglia function in Huntington's disease models. Neuron. 2016 Dec 21;92(6):1220-37.Full text  Abstract

118. Group HS. Brief report: Pfizer Amaryllis trial ends: negative results lead to termination of extension study. 2016 [internet publication].Full text

119. 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):355-66.Full text  Abstract

120. Bachoud-Lévi AC, Ferreira J, Massart R, et al. International Guidelines for the Treatment of Huntington's Disease. Front Neurol. 2019;10:710.Full text  Abstract

121. Hunt VP, Walker FO. Dysphagia in Huntington's disease. J Neurosci Nurs. 1989 Apr;21(2):92-5. Abstract

122. Hamilton JM, Wolfson T, Peavy GM, et al; Huntington Study Group. Rate and correlates of weight change in Huntington's disease. J Neurol Neurosurg Psychiatry. 2004 Feb;75(2):209-12.Full text  Abstract

123. Trejo A, Tarrats RM, Alonso ME, et al. Assessment of the nutrition status of patients with Huntington's disease. Nutrition. 2004 Feb;20(2):192-6. Abstract

124. Wheelock VL, Tempkin T, Marder K, et al. Predictors of nursing home placement in Huntington disease. Neurology. 2003 Mar 25;60(6):998-1001. Abstract

125. van der Burg JM, Björkqvist M, Brundin P. Beyond the brain: widespread pathology in Huntington's disease. Lancet Neurol. 2009 Aug;8(8):765-74. Abstract

126. Djoussé L, Knowlton B, Cupples LA, et al. Weight loss in early stage of Huntington's disease. Neurology. 2002 Nov 12;59(9):1325-30. Abstract

127. Robins Wahlin TB, Bäckman L, Lundin A, et al. High suicidal ideation in persons testing for Huntington's disease. Acta Neurol Scand. 2000 Sep;102(3):150-61. Abstract

128. Di Maio L, Squitieri F, Napolitano G, et al. Suicide risk in Huntington's disease. J Med Genet. 1993 Apr;30(4):293-5.Full text  Abstract

129. Farrer LA. Suicide and attempted suicide in Huntington disease: implications for preclinical testing of persons at risk. Am J Med Genet. 1986 Jun;24(2):305-11. Abstract

130. Skegg K. Self-harm. Lancet. 2005 Oct 22-28;366(9495):1471-83. Abstract

131. Conner KR, Duberstein PR, Conwell Y, et al. Psychological vulnerability to completed suicide: a review of empirical studies. Suicide Life Threat Behav. 2001 Winter;31(4):367-85. Abstract

132. Lantz MS. Suicide in late life. Identifying and managing at-risk older patients. Geriatrics. 2001 Jul;56(7):47-8. Abstract

133. Shenassa ED, Rogers ML, Spalding KL, et al. Safer storage of firearms at home and risk of suicide: a study of protective factors in a nationally representative sample. J Epidemiol Community Health. 2004 Oct;58(10):841-8.Full text  Abstract

134. Gorlyn M. Impulsivity in the prediction of suicidal behavior in adolescent populations. Int J Adolesc Med Health. 2005 Jul-Sep;17(3):205-9. Abstract

135. Bonelli RM, Wenning GK. Pharmacological management of Huntington's disease: an evidence-based review. Curr Pharm Des. 2006;12(21):2701-20. Abstract

136. Shoesmith C, Abrahao A, Benstead T, et al. Canadian best practice recommendations for the management of amyotrophic lateral sclerosis. CMAJ. 2020 Nov 16;192(46):E1453-E1468.Full text  Abstract

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