Doença de Huntington

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

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

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. Resumo

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

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

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.Texto completo  Resumo

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

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4. Bruzelius E, Scarpa J, Zhao Y, et al. Huntington's disease in the United States: Variation by demographic and socioeconomic factors. Mov Disord. 2019 Jun;34(6):858-65.Texto completo  Resumo

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14. Oliveira JM, Jekabsons MB, Chen S, et al. Mitochondrial dysfunction in Huntington's disease: the bioenergetics of isolated and in situ mitochondria from transgenic mice. J Neurochem. 2007 Apr;101(1):241-9. Resumo

15. Stack EC, Smith KM, Ryu H, et al. Combination therapy using minocycline and coenzyme Q10 in R6/2 transgenic Huntington's disease mice. Biochim Biophys Acta. 2006 Mar;1762(3):373-80. Resumo

16. Graham RK, Deng Y, Slow EJ, et al. Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin. Cell. 2006 Jun 16;125(6):1179-91. Resumo

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18. Stober T, Wussow W, Schimrigk K. Bicaudate diameter: the most specific and simple CT parameter in the diagnosis of Huntington's disease. Neuroradiology. 1984;26(1):25-8. Resumo

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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.Texto completo  Resumo

21. Li JL, Hayden MR, Warby SC, et al. Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. BMC Med Genet. 2006 Aug 17;7:71.Texto completo  Resumo

22. van Duijn E, Kingma EM, van der Mast RC. Psychopathology in verified Huntington's disease gene carriers. J Neuropsychiatry Clin Neurosci. 2007 Fall;19(4):441-8. Resumo

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

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25. Marshall J, White K, Weaver M, et al. Specific psychiatric manifestations among preclinical Huntington disease mutation carriers. Arch Neurol. 2007 Jan;64(1):116-21.Texto completo  Resumo

26. Craufurd D, Thompson JC, Snowden JS. Behavioral changes in Huntington Disease. Neuropsychiatry Neuropsychol Behav Neurol. 2001 Oct-Dec;14(4):219-26. Resumo

27. Paulsen JS, Nehl C, Hoth KF, et al. Depression and stages of Huntington's disease. J Neuropsychiatry Clin Neurosci. 2005 Fall;17(4):496-502. Resumo

28. Tibben A, Vegter-vd Vlis M, vd Niermeijer MF, et al. Testing for Huntington's disease with support for all parties. Lancet. 1990 Mar 3;335(8688):553. Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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

35. Burke JR, Wingfield MS, Lewis KE, et al. The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet. 1994 Aug;7(4):521-4. Resumo

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. Resumo

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. Resumo

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

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. Resumo

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.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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

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

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. Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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

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

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

56. 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. Resumo

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

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

59. 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. Resumo

60. 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.Texto completo  Resumo

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

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

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

64. 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. Resumo

65. 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. Resumo

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

67. 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. Resumo

68. 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. Resumo

69. 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. Resumo

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

71. 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. Resumo

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

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

74. 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. Resumo

75. 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. Resumo

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

77. European Medicines Agency. New measures to avoid valproate exposure in pregnancy endorsed. EMA/145600/2018. March 2018 [internet publication].Texto completo

78. 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. Resumo

79. 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. Resumo

80. 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. Resumo

81. 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.Texto completo  Resumo

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

83. 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. Resumo

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

85. 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.Texto completo  Resumo

86. 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. Resumo

87. 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. Resumo

88. 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. Resumo

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

90. 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. Resumo

91. 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.Texto completo  Resumo

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

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

94. 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.Texto completo  Resumo

95. 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. Resumo

96. 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.Texto completo  Resumo

97. 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].Texto completo

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

99. 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.Texto completo

100. 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.Texto completo

101. 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.Texto completo  Resumo

102. 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.Texto completo  Resumo

103. 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. Resumo

104. 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. Resumo

105. 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.Texto completo  Resumo

106. ClinicalTrials.gov. Pridopidine's outcome on function in Huntington disease, PROOF- HD. ClinicalTrails.gov indentifier: NCT04556656. Nov 2021 [internet publication].Texto completo

107. 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.Texto completo

108. 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.Texto completo

109. 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.Texto completo  Resumo

110. Rodrigues FB, Quinn L, Wild EJ. Huntington's disease clinical trials corner: January 2019. J Huntingtons Dis. 2019;8(1):115-25.Texto completo  Resumo

111. ClinicalTrials.gov. Safety and Proof-of-Concept (POC) study with AMT-130 in adults with early manifest Huntington disease. ClinicalTrials.gov identifier NCT04120493. 10 Dec 2021 [internet publication].Texto completo

112. 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. Resumo

113. 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.

114. 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.Texto completo

115. 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.Texto completo  Resumo

116. 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.Texto completo  Resumo

117. Group HS. Brief report: Pfizer Amaryllis trial ends: negative results lead to termination of extension study. 2016 [internet publication].Texto completo

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119. 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.Texto completo  Resumo

120. 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. Resumo

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

122. 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. Resumo

123. 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. Resumo

124. 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. Resumo

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

126. 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. Resumo

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

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

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