Huntington's disease

Current Opinion in Neurology

Volumn 25, Issue 4, 2012, Pages 491-498

  Ha, Ainhi D ^a   Fung, Victor S C ^a,b  

^a WESTMEAD HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Biomarker; Huntington's disease; Neurodegeneration; Premanifest Huntington's disease; Prodromal Huntington's disease

Indexed keywords

AMANTADINE; BIOLOGICAL MARKER; BRAIN DERIVED NEUROTROPHIC FACTOR; CREATINE; NEUROLEPTIC AGENT; PRIDOPIDINE; TETRABENAZINE; UBIDECARENONE;

BEHAVIOR; CLINICAL FEATURE; COGNITION; DISEASE COURSE; EXCITOTOXICITY; HETEROZYGOTE; HUMAN; HUNTINGTON CHOREA; MITOCHONDRION; MOTOR PERFORMANCE; NERVE DEGENERATION; NEUROPROTECTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PROTEIN PROCESSING; REVIEW; TRANSCRIPTION REGULATION;

ANIMALS; BRAIN; COGNITION DISORDERS; HUMANS; HUNTINGTON DISEASE; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL DISEASES; NERVE TISSUE PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 84863669552     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0b013e3283550c97     Document Type: Review

References (88)

1. Paulsen JS. Cognitive impairment in Huntington disease: diagnosis and treatment. Curr Neurol Neurosci Rep 2011; 11:474-483.
2. Langbehn DR, Brinkman RR, Falush D, et al. A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet 2004; 65:267-277. (Pubitemid 38443548)
3. Stout JC, Paulsen JS, Queller S, et al. Neurocognitive signs in prodromal Huntington disease. Neuropsychology 2011; 25:1-14.
4. Duff K, Paulsen J, Mills J, et al. Mild cognitive impairment in prediagnosed Huntington disease. Neurology 2010; 75:500-507.
5. Papp KV, Kaplan RF, Snyder PJ. Biological markers of cognition in prodromal Huntington's disease: a review. Brain Cogn 2011; 77:280-291.
6. Tabrizi SJ, Langbehn DR, Leavitt BR, et al. Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data. Lancet Neurol 2009; 8:791-801.
7. Fiedorowicz JG, Mills JA, Ruggle A, et al. Suicidal behavior in prodromal Huntington disease. Neurodegener Dis 2011; 8:483-490.
8. Rupp J, Dzemidzic M, Blekher T, et al. Comparison of vertical and horizontal saccade measures and their relation to gray matter changes in premanifest and manifest Huntington disease. J Neurol 2012; 259:267-276.
9. Reilmann R, Bohlen S, Klopstock T, et al. Tongue force analysis assesses motor phenotype in premanifest and symptomatic Huntington's disease. Mov Disord 2010; 25:2195-2202.
10. Bechtel N, Scahill RI, Rosas HD, et al. Tapping linked to function and structure in premanifest and symptomatic Huntington disease. Neurology 2010; 75:2150-2160.
11. Rowe KC, Paulsen JS, Langbehn DR, et al. Self-paced timing detects and tracks change in prodromal Huntington disease. Neuropsychology 2010; 24:435-442.
12. Reilmann R, Bohlen S, Kirsten F, et al. Assessment of involuntary choreatic movements in Huntington's disease-toward objective and quantitative measures. Mov Disord 2011; 26:2267-2273.
13. Tabrizi SJ, Reilmann R, Roos RA, et al. Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data. Lancet Neurol 2012; 11:42-53.
14. Majid DS, Aron AR, Thompson W, et al. Basal ganglia atrophy in prodromal Huntington's disease is detectable over one year using automated segmentation. Mov Disord 2011; 26:2544-2551.
15. Nopoulos PC, Aylward EH, Ross CA, et al. Cerebral cortex structure in prodromal Huntington disease. Neurobiol Dis 2010; 40:544-554.
16. Aylward EH, Nopoulos PC, Ross CA, et al. Longitudinal change in regional brain volumes in prodromal Huntington disease. J Neurol Neurosurg Psychiatry 2011; 82:405-410.
17. Van den Bogaard SJ, Dumas EM, Ferrarini L, et al. Shape analysis of subcortical nuclei in Huntington's disease, global versus local atrophy-results from the TRACK-HD study. J Neurol Sci 2011; 307:60-68.
18. Majid DS, Stoffers D, Sheldon S, et al. Automated structural imaging analysis detects premanifest Huntington's disease neurodegeneration within 1 year. Mov Disord 2011; 26:1481-1488.
19. Aylward E, Mills J, Liu D, et al. Association between age and striatal volume stratified by CAG repeat length in prodromal Huntington disease. PLoS Curr 2011; 3:RRN1235.
20. Weir DW, Sturrock A, Leavitt BR. Development of biomarkers for Huntington's disease. Lancet Neurol 2011; 10:573-590.
21. Tabrizi SJ, Scahill RI, Durr A, et al. Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis. Lancet Neurol 2011; 10:31-42.
22. Rawlins M. Huntington's disease out of the closet? Lancet 2010; 376:1372-1373.
23. Wexler NS, Lorimer J, Porter J, et al. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci USA 2004; 101:3498-3503. (Pubitemid 38338224)
24. Byars JA, Beglinger LJ, Moser DJ, et al. Substance abuse may be a risk factor for earlier onset of Huntington disease. J Neurol 2012. [Epub ahead of print]
25. Rosenblatt A, Kumar BV, Mo A, et al. Age, CAG repeat length, and clinical progression in Huntington's disease. Mov Disord 2012; 27:272-276.
26. Klempir J, Zidovska J, Stochl J, et al. The number of CAG repeats within the normal allele does not influence the age of onset in Huntington's disease. Mov Disord 2011; 26:125-129.
27. Lee JM, Ramos EM, Lee JH, et al. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology 2012; 78:690-695.
28. ACMG/ASHG statement. Laboratory guidelines for Huntington disease genetic testing. The American College ofMedical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group. Am J Hum Genet 1998; 62:1243-1247.
29. Semaka A, Creighton S, Warby S, Hayden MR. Predictive testing for Huntington disease: interpretation and significance of intermediate alleles. Clin Genet 2006; 70:283-294. (Pubitemid 44323391)
30. Ha AD, Beck CA, Jankovic J. Intermediate CAG repeats in Huntington's Disease: analysis of COHORT. Tremor Other Hyperkinet Mov 2012; 2. http://tremorjournal.org/article/view/64.
31. Ha AD, Jankovic J. Exploring the correlates of intermediate CAG repeats in Huntington disease. Postgrad Med 2011; 123:116-121.
32. Squitieri F, Esmaeilzadeh M, Ciarmiello A, Jankovic J. Caudate glucose hypometabolism in a subject carrying an unstable allele of intermediate CAG(33) repeat length in the Huntington's disease gene. Mov Disord 2011; 26:925-927.
33. Roos RA. Huntington's disease: a clinical review. Orphanet J Rare Dis 2010; 5:40.
34. Ha AD, Jankovic J. Huntington disease and other genetic choreas. In: Albanese A, Jankovic J, editors. Hyperkinetic movement disorders. Oxford, UK: Wiley-Blackwell; 2011.
35. Goldberg A, Schepens SL, Feely SM, et al. Deficits in stepping response time are associated with impairments in balance and mobility in people with Huntington disease. J Neurol Sci 2010; 298:91-95.
36. Panzera R, Salomonczyk D, Pirogovosky E, et al. Postural deficits in Huntington's disease when performing motor skills involved in daily living. Gait Posture 2011; 33:457-461.
37. Peavy GM, Jacobson MW, Goldstein JL, et al. Cognitive and functional decline in Huntington's disease: dementia criteria revisited. Mov Disord 2010; 25:1163-1169.
38. Mickes L, Jacobson M, Peavy G, et al. A comparison of two brief screening measures of cognitive impairment in Huntington's disease. Mov Disord 2010; 25:2229-2233.
39. O'Rourke JJ, Adams WH, Duff K, et al. Estimating premorbid functioning in Huntington's disease: the relationship between disease progression and the wide range achievement test reading subtest. Arch Clin Neuropsychol 2011; 26:59-66.
40. Carlozzi NE, Stout JC, Mills JA, et al. Estimating premorbid IQ in the prodromal phase of a neurodegenerative disease. Clin Neuropsychol 2011; 25:757-777.
41. Reedeker N, Bouwens JA, van Duijn E, et al. Incidence, course, and predictors of apathy in Huntington's disease: a two-year prospective study. J Neuropsychiatry Clin Neurosci 2011; 23:434-441.
42. Orth M, Handley OJ, Schwenke C, et al. Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. Version 2. PLoS Curr 2010 [revised 2011]; 2:RRN1184.
43. Hubers AA, Reedeker N, Giltay EJ, et al. Suicidality in Huntington's disease. J Affect Disord 2012; 136:550-557.
44. Wetzel HH, Gehl CR, Dellefave-Castillo L, et al. Suicidal ideation in Huntington disease: the role of comorbidity. Psychiatry Res 2011; 188: 372-376.
45. Rickards H, De Souza J, van Walsem M, et al. Factor analysis of behavioural symptoms in Huntington's disease. J Neurol Neurosurg Psychiatry 2011; 82:411-412.
46. Ross CA, Tabrizi SJ. Huntington's disease: from molecular pathogenesis to clinical treatment. Lancet Neurol 2011; 10:83-98.
47. Zuccato C, Valenza M, Cattaneo E. Molecular mechanisms and potential therapeutical targets in Huntington's disease. Physiol Rev 2010; 90:905-981.
48. Xie Y, Hayden MR, Xu B. BDNF overexpression in the forebrain rescues Huntington's disease phenotypes in YAC128 mice. J Neurosci 2010; 30: 14708-14718.
49. Martin E, Betuing S, Pages C, et al. Mitogen-and stress-activated protein kinase 1-induced neuroprotection in Huntington's disease: role on chromatin remodeling at the PGC-1-alpha promoter. Hum Mol Genet 2011; 20:2422-2434.
50. Jiang M, Wang J, Fu J, et al. Neuroprotective role of Sirt1 in mammalian models of Huntington's disease through activation of multiple Sirt1 targets. Nat Med 2012; 18:153-159.
51. Jeong H, Cohen DE, Libin Cui L, et al. Sirt1 mediates neuroprotection from mutant huntingtin by activation of the TORC1 and CREB transcriptional pathway. Nat Med 2012; 18:159-166.
52. Shirendeb U, Reddy AP, Manczak M, et al. Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington's disease: implications for selective neuronal damage. Hum Mol Genet 2011; 20:1438-1455.
53. Orr AL, Li S, Wang CE, et al. N-terminal mutant huntingtin associates with mitochondria and impairs mitochondrial trafficking. J Neurosci 2008; 28:2783-2792. (Pubitemid 351398886)
54. Cui L, Jeong H, Borovecki F, et al. Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. Cell 2006; 127:59-69. (Pubitemid 44466642)
55. Shirendeb UP, Calkins MJ, Manczak M, et al. Mutant Huntingtin's interaction with mitochondrial protein Drp1 impairs mitochondrial biogenesis and causes defective axonal transport and synaptic degeneration in Huntington's disease. Hum Mol Genet 2012; 21:406-420.
56. Yang L, Calingasan NY, Wille EJ, et al. Combination therapy with coenzyme Q10 and creatine produces additive neuroprotective effects in models of Parkinson's and Huntington's diseases. J Neurochem 2009; 109:1427-1439.
57. Schwarcz R, Guidetti P, Sathyasaikumar KV, Muchowski PJ. Of mice, rats and men: revisiting the quinolinic acid hypothesis of Huntington's disease. Prog Neurobiol 2010; 90:230-245.
58. Ali NJ, Levine MS. Changes in expression of N-methyl-D-aspartate receptor subunits occur early in the R6/2 mouse model of Huntington's disease. Dev Neurosci 2006; 28:230-238.
59. Coyle JT, Schwarcz R. Lesion of striatal neurones with kainic acid provides a model for Huntington's chorea. Nature 1976; 263:244-246.
60. Beal MF, Kowall NW, Ellison DW, et al. Replication of the neurochemical characteristics of Huntington's disease by quinolinic acid. Nature 1986; 321: 168-171. (Pubitemid 16022019)
61. Yamamoto A, Lucas JJ, Hen R. Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell 2000; 101:57-66.
62. Martinez-Vicente M, Talloczy Z, Wong E, et al. Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease. Nat Neurosci 2010; 13:567-576.
63. Bennett EJ, Shaler TA, Woodman B, et al. Global changes to the ubiquitin system in Huntington's disease. Nature 2007; 448:704-708. (Pubitemid 47236860)
64. Koga H, Martinez-Vicente M, Arias E, et al. Constitutive upregulation of chaperone-mediated autophagy in Huntington's disease. J Neurosci 2011; 31:18492-18505.
65. Renna M, Jimenez-Sanchez M, Sarkar S, Rubinsztein DC. Chemical inducers of autophagy that enhance the clearance of mutant proteins in neurodegenerative diseases. J Biol Chem 2010; 285:11061-11067.
66. Thompson LM, Aiken CT, Kaltenbach LS, et al. IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome. J Cell Biol 2009; 187:1083-1099.
67. Young FB, Butland SL, Sanders SS, et al. Putting proteins in their place: palmitoylation in Huntington disease and other neuropsychiatric diseases. Prog Neurobiol 2011. [Epub ahead of print]
68. Frank S, Jankovic J. Advances in the pharmacological management of Huntington's disease. Drugs 2010; 70:561-571.
69. Jankovic J, Clarence-Smith K. Tetrabenazine for the treatment of chorea and other hyperkinetic movement disorders. Expert Rev Neurother 2011; 11: 1509-1523.
70. Huntington Study Group. Tetrabenazine as antichorea therapy in Huntington disease: a randomized controlled trial. Neurology 2006; 66:366-372.
71. Dorsey R, Biglan K, Eberly S, et al. Use of tetrabenazine in Huntington disease patients on antidepressants or with advanced disease: results from the TETRA-HD study. PLoS Curr 2011; 3:RRN1283.
72. Burgunder JM, Guttman M, Perlman S, et al. An international survey-based algorithm for the pharmacologic treatment of chorea in Huntington's disease. PLoS Curr 2011; 3:RRN1260.
73. Lundin A, Dietrichs E, Haghighi S, et al. Efficacy and safety of the dopaminergic stabilizer pridopidine (ACR16) in patients with Huntington's disease. Clin Neuropharmacol 2010; 33:260-264.
74. De Yebenes JG, Landwehrmeyer B, Squitieri F, et al. Pridopidine for the treatment of motor function in patients with Huntington's disease (MermaiHD): a phase 3, randomised, double-blind, placebo-controlled trial. Lancet Neurol 2011; 10:1049-1057.
75. Feigin A. Pridopidine in treatment of Huntington's disease: beyond chorea? Lancet Neurol 2011; 10:1036-1037.
76. Venuto CS, McGarry A, Ma Q, Kieburtz K. Pharmacologic approaches to the treatment of Huntington's disease. Mov Disord 2012; 27:31-41.
77. De Tommaso M, Difruscolo O, Sciruicchio V, et al. Two years' follow-up of rivastigmine treatment in Huntington disease. Clin Neuropharmacol 2007; 30:43-46. (Pubitemid 46204317)
78. Cubo E, Shannon KM, Tracy D, et al. Effect of donepezil on motor and cognitive function in Huntington disease. Neurology 2006; 67:1268-1271. (Pubitemid 44563842)
79. Anderson K, Craufurd D, Edmondson MC, et al. An international survey-based algorithm for the pharmacologic treatment of obsessive-compulsive behaviors in Huntington's disease. PLoS Curr 2011; 3:RRN1261.
80. Huntington Study Group DOMINO Investigators. A futility study of minocycline in Huntington's disease. Mov Disord 2010; 25:2219-2224.
81. Landwehrmeyer GB, Dubois B, de Yebenes JG, et al. Riluzole in Huntington's disease: a 3-year, randomized controlled study. Ann Neurol 2007; 62:262-272. (Pubitemid 47525402)
82. Huntington Study Group. A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease. Neurology 2001; 57:397-404.
83. Cudkowicz ME. Coenzyme Q10 in Huntington's disease (HD). 2012 [updated 6 January 2012; cited 2012 January 31]. Available from http://www.clinicaltrials. gov/ct2/show/NCT00608881?term/2care&rank/1.
84. Hyson HC, Kieburtz K, Shoulson I, et al. Safety and tolerability of high-dosage coenzyme Q10 in Huntington's disease and healthy subjects. Mov Disord 2010; 25:1924-1928.
85. Study in PREmanifest Huntington's disease of coenzyme Q10 (UbiquinonE) Leading to preventive trials [updated January 2011; cited 2012 January 31]. Available from http://www.huntington-study-group.org/ClinicalResearch/ ClinicalTrialsObservationalStudiesinProgress/PREQUEL/tabid/107/Default.aspx.
86. Beal MF. Neuroprotective effects of creatine. Amino Acids 2011; 40:1305-1313.
87. Tabrizi SJ, Blamire AM, Manners DN, et al. High-dose creatine therapy for Huntington disease: a 2-year clinical and MRS study. Neurology 2005; 64:1655-1656. (Pubitemid 40617715)
88. Creatine safety, tolerability, & efficacy in Huntington's disease. [updated 19 July 2011; 31 cited January 2012]. Available from http://www.clinicaltrials. gov/ct2/show/NCT00712426?term/crest +e&rank/1.