Huntington's disease

Advances in Experimental Medicine and Biology

Volumn 685, Issue , 2010, Pages 45-63

  Roze, Emmanuel ^a   Bonnet, Cecilia ^b   Betuing, Sandrine ^b   Caboche, Jocelyne ^b  

^a CNRS   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMANTADINE; BUTYRIC ACID; CHROMOMYCIN; CYSTAMINE; DOPAMINE; DOPAMINE RECEPTOR BLOCKING AGENT; GLUTAMIC ACID; HISTONE DEACETYLASE INHIBITOR; HISTONE H3; HUNTINGTIN; LAMOTRIGINE; MEMANTINE; MITHRAMYCIN; REMACEMIDE; RILUZOLE; VORINOSTAT; HD PROTEIN, HUMAN; NERVE PROTEIN; NUCLEAR PROTEIN;

5' UNTRANSLATED REGION; ARTICLE; CAG REPEAT; CLINICAL FEATURE; COGNITIVE DEFECT; CORPUS STRIATUM; DEATH; DISEASE COURSE; ENERGY METABOLISM; ENZYME REGULATION; EXCITOTOXICITY; GENE MUTATION; GENETICS; HISTONE METHYLATION; HUMAN; HUNTINGTON CHOREA; MENTAL DISEASE; MOLECULAR DYNAMICS; MOTOR DYSFUNCTION; NERVE CELL; NERVE FIBER TRANSPORT; NEUROPATHOLOGY; NONHUMAN; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN EXPRESSION; SYNAPTIC TRANSMISSION; ANIMAL; BASAL GANGLION; CHROMOSOME DISORDER; METABOLISM; NERVE FIBER; PATHOLOGY; PATHOPHYSIOLOGY; REVIEW; TRANSPORT AT THE CELLULAR LEVEL; TRINUCLEOTIDE REPEAT;

ANIMALS; AXONS; BASAL GANGLIA; BIOLOGICAL TRANSPORT; CHROMOSOME DISORDERS; ENERGY METABOLISM; HUMANS; HUNTINGTON DISEASE; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 77955899149     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-6448-9_5     Document Type: Article

References (302)

1. Huntington G. On chorea. Med Surg Rep 1872; 317-321.
2. Okun MS, Thommi N. Americo Negrette (1924 to 2003): Diagnosing Huntington disease in Venezuela. Neurology 2004; 63:340-343. (Pubitemid 38971137)
3. Gusella JF, Wexler NS, Conneally PM et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 1983; 306:234-238. (Pubitemid 14232350)
4. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell 1993; 72:971-983.
5. Paradisi I, Hernandez A, Arias S. Huntington disease mutation in Venezuela: Age of onset, haplotype analyses and geographic aggregation. J Hum Genet 2008; 53:127-135.
6. Harper PS. The epidemiology of Huntington's disease. Hum Genet 1992; 89:365-376.
7. Foroud T, Gray J, Ivashina J et al. Differences in duration of Huntington's disease based on age at onset. Journal of neurology, neurosurgery and psychiatry 1999; 66:52-56. (Pubitemid 29101487)
8. Mahant N, McCusker EA, Byth K et al. Huntington's disease: Clinical correlates of disability and progression. Neurology 2003; 61:1085-1092. (Pubitemid 37461942)
9. Rao AK, Muratori L, Louis ED et al. Spectrum of gait impairments in presymptomatic and symptomatic Huntington's disease. Mov Disord 2008; 23:1100-1107.
10. Hicks SL, Robert MP, Golding CV et al. Oculomotor deficits indicate the progression of Huntington's disease. Prog Brain Res 2008; 171:555-558.
11. Paulsen JS, Langbehn DR, Stout JC et al. Detection of Huntington's disease decades before diagnosis: The Predict-HD study. Journal of neurology, neurosurgery and psychiatry 2008; 79:874-880.
12. Julien CL, Thompson JC, Wild S et al. Psychiatric disorders in preclinical Huntington's disease. Journal of neurology, neurosurgery and psychiatry 2007; 78:939-943. (Pubitemid 47310828)
13. Kingma EM, van Duijn E, Timman R et al. Behavioural problems in Huntington's disease using the Problem Behaviours Assessment. Gen Hosp Psychiatry 2008; 30:155-161. (Pubitemid 351255558)
14. Beglinger LJ, Langbehn DR, Duff K et al. Probability of obsessive and compulsive symptoms in Huntington's disease. Biol Psychiatry 2007; 61:415-418. (Pubitemid 46108683)
15. Gargiulo M, Lejeune S, Tanguy ML et al. Long-term outcome of presymptomatic testing in Huntington disease. Eur J Hum Genet 2009; 17:165-171.
16. Quinn N, Schrag A. Huntington's disease and other choreas. J Neurol 1998; 245:709-716. (Pubitemid 28468469)
17. Penney JB Jr, Young AB, Shoulson I et al. Huntington's disease in Venezuela: 7 ears of follow-up on symptomatic and asymptomatic individuals. Mov Disord 1990; 5:93-99. (Pubitemid 20166182)
18. Kremer B, Weber B, Hayden MR. New insights into the clinical features, pathogenesis and molecular genetics of Huntington disease. Brain Pathol 1992; 2:321-335.
19. Busse ME, Wiles CM, Rosser AE. Mobility and falls in people with Huntington's disease. Journal of neurology, neurosurgery and psychiatry 2009; 80:88-90.
20. Wheelock VL, Tempkin T, Marder K et al. Predictors of nursing home placement in Huntington disease. Neurology 2003; 60:998-1001. (Pubitemid 36348935)
21. Kerbeshian J, Burd L, Leech C et al. Huntington disease and childhood-onset Tourette syndrome. Am J Med Genet 1991; 39:1-3.
22. Jankovic J, Beach J, Ashizawa T. Emotional and functional impact of DNA testing on patients with symptoms of Huntington's disease. J Med Genet 1995; 32:516-518.
23. Vogel CM, Drury I, Terry LC et al. Myoclonus in adult Huntington's disease. Ann Neurol 1991; 29:213-215.
24. Carella F, Scaioli V, Ciano C et al. Adult onset myoclonic Huntington's disease. Mov Disord 1993; 8:201-205. (Pubitemid 23131645)
25. Thompson PD, Bhatia KP, Brown P et al. Cortical myoclonus in Huntington's disease. Mov Disord 1994; 9:633-641. (Pubitemid 24343282)
26. Siesling S, Vegter-van der Vlis M, Roos RA. Juvenile Huntington disease in the Netherlands. Pediatr Neurol 1997; 17:37-43. (Pubitemid 27387918)
27. Gonzalez-Alegre P, Afifi AK. Clinical characteristics of childhood-onset (juvenile) Huntington disease: Report of 12 patients and review of the literature. J Child Neurol 2006; 21:223-229. (Pubitemid 43891148)
28. Gambardella A, Muglia M, Labate A et al. Juvenile Huntington's disease presenting as progressive myoclonic epilepsy. Neurology 2001; 57:708-711. (Pubitemid 32783005)
29. MacMillan JC, Morrison PJ, Nevin NC et al. Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. J Med Genet 1993; 30:1012-1013. (Pubitemid 23356870)
30. Britton JW, Uitti RJ, Ahlskog JE et al. Hereditary late-onset chorea without significant dementia: Genetic evidence for substantial phenotypic variation in Huntington's disease. Neurology 1995; 45:443-447.
31. Ho AK, Sahakian BJ, Brown RG et al. Profile of cognitive progression in early Huntington's disease. Neurology 2003; 61:1702-1706. (Pubitemid 38020815)
32. Caine ED, Hunt RD, Weingartner H et al. Huntington's dementia. Clinical and neuropsychological features. Arch Gen Psychiatry 1978; 35:377-384. (Pubitemid 8322959)
33. Bamford KA, Caine ED, Kido DK et al. A prospective evaluation of cognitive decline in early Huntington's disease: Functional and radiographic correlates. Neurology 1995; 45:1867-1873. (Pubitemid 27122960)
34. Peinemann A, Schuller S, Pohl C et al. Executive dysfunction in early stages of Huntington's disease is associated with striatal and insular atrophy: A neuropsychological and voxel-based morphometric study. J Neurol Sci 2005; 239:11-19. (Pubitemid 41617410)
35. Caine ED, Ebert MH, Weingartner H. An outline for the analysis of dementia. The memory disorder of Huntingtons disease. Neurology 1977; 27:1087-1092. (Pubitemid 8230809)
36. Hodges JR, Salmon DP, Butters N. Differential impairment of semantic and episodic memory in Alzheimer's and Huntington's diseases: A controlled prospective study. Journal of neurology, neurosurgery and psychiatry 1990; 53:1089-1095.
37. Pillon B, Deweer B, Agid Y et al. Explicit memory in Alzheimer's, Huntington's and Parkinson's diseases. Arch Neurol 1993; 50:374-379. (Pubitemid 23105460)
38. Pillon B, Deweer B, Michon A et al. Are explicit memory disorders of progressive supranuclear palsy related to damage to striatofrontal circuits? Comparison with Alzheimer's, Parkinson's and Huntington's diseases. Neurology 1994; 44:1264-1270.
39. Shiwach RS, Norbury CG. A controlled psychiatric study of individuals at risk for Huntington's disease. Br J Psychiatry 1994; 165:500-505. (Pubitemid 24305959)
40. Kirkwood SC, Siemers E, Viken R et al. Longitudinal personality changes among presymptomatic Huntington disease gene carriers. Neuropsychiatry Neuropsychol Behav Neurol 2002; 15:192-197. (Pubitemid 35006774)
41. Cummings JL, Cunningham K. Obsessive-compulsive disorder in Huntington's disease. Biol Psychiatry 1992; 31:263-270.
42. Patzold T, Brune M. Obsessive compulsive disorder in Huntington disease: A case of isolated obsessions successfully treated with sertraline. Neuropsychiatry Neuropsychol Behav Neurol 2002; 15:216-219. (Pubitemid 35006777)
43. Fedoroff JP, Peyser C, Franz ML et al. Sexual disorders in Huntington's disease. J Neuropsychiatry Clin Neurosci 1994; 6:147-153. (Pubitemid 24143943)
44. Pflanz S, Besson JA, Ebmeier KP et al. The clinical manifestation of mental disorder in Huntington's disease: A retrospective case record study of disease progression. Acta Psychiatr Scand 1991; 83:53-60.
45. Paulsen JS, Ready RE, Hamilton JM et al. Neuropsychiatric aspects of Huntington's disease. Journal of neurology, neurosurgery and psychiatry 2001; 71:310-314. (Pubitemid 32772526)
46. Caine ED, Shoulson I. Psychiatric syndromes in Huntington's disease. Am J Psychiatry 1983; 140:728-733. (Pubitemid 13094138)
47. Folstein SE, Franz ML, Jensen BA et al. Conduct disorder and affective disorder among the offspring of patients with Huntington's disease. Psychol Med 1983; 13:45-52. (Pubitemid 13132134)
48. Di Maio L, Squitieri F, Napolitano G et al. Onset symptoms in 510 patients with Huntington's disease. J Med Genet 1993; 30:289-292. (Pubitemid 23120482)
49. Cummings JL. Behavioral and psychiatric symptoms associated with Huntington's disease. Adv Neurol 1995; 65:179-186.
50. Jensen P, Fenger K, Bolwig TG et al. Crime in Huntington's disease: A study of registered offences among patients, relatives and controls. Journal of neurology, neurosurgery and psychiatry 1998; 65:467-471. (Pubitemid 28438874)
51. Mendez MF. Mania in neurologic disorders. Curr Psychiatry Rep 2000; 2:440-445.
52. Rosenblatt A, Leroi I. Neuropsychiatry of Huntington's disease and other basal ganglia disorders. Psychosomatics 2000; 41:24-30. (Pubitemid 30062894)
53. Farrer LA. Suicide and attempted suicide in Huntington disease: Implications for preclinical testing of persons at risk. Am J Med Genet 1986; 24:305-311. (Pubitemid 16086550)
54. Paulsen JS, Hoth KF, Nehl C et al. Critical periods of suicide risk in Huntington's disease. Am J Psychiatry 2005; 162:725-731. (Pubitemid 40489135)
55. Lipe H, Schultz A, Bird TD. Risk factors for suicide in Huntingtons disease: A retrospective case controlled study. Am J Med Genet 1993; 48:231-233.
56. Taylor N, Bramble D. Sleep disturbance and Huntingdon's disease. Br J Psychiatry 1997; 171:393.
57. Morton AJ, Wood NI, Hastings MH et al. Disintegration of the sleep-wake cycle and circadian timing in Huntington's disease. J Neurosci 2005; 25:157-163. (Pubitemid 40110776)
58. Arnulf I, Nielsen J, Lohmann E et al. Rapid eye movement sleep disturbances in Huntington disease. Arch Neurol 2008; 65:482-488. (Pubitemid 351549956)
59. Videnovic A, Leurgans S, Fan W et al. Daytime somnolence and nocturnal sleep disturbances in Huntington disease. Parkinsonism Relat Disord 2008.
60. Aziz NA, van der Burg JM, Landwehrmeyer GB et al. Weight loss in Huntington disease increases with higher CAG repeat number. Neurology 2008; 71:1506-1513.
61. Pratley RE, Salbe AD, Ravussin E et al. Higher sedentary energy expenditure in patients with Huntington's disease. Ann Neurol 2000; 47:64-70. (Pubitemid 30033651)
62. Kenney C, Powell S, Jankovic J. Autopsy-proven Huntington's disease with 29 trinucleotide repeats. Mov Disord 2007; 22:127-130. (Pubitemid 46382686)
63. Semaka A, Warby S, Leavitt BR et al. Re: Autopsy-proven Huntington's disease with 29 trinucleotide repeats. Mov Disord 2008; 23:1794-1795; author reply 1793.
64. Reynolds N. Re: Autopsy-proven Huntington's disease with 29 trinucleotide repeats. Mov Disord 2008; 23:1795-1796; author reply 1793.
65. Goldberg YP, Rommens JM, Andrew SE et al. Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease. Nature 1993; 362:370-373. (Pubitemid 23101315)
66. Davis MB, Bateman D, Quinn NP et al. Mutation analysis in patients with possible but apparently sporadic Huntington's disease. Lancet 1994; 344:714-717. (Pubitemid 24281423)
67. Zuhlke C, Riess O, Bockel B et al. Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Hum Mol Genet 1993; 2:2063-2067. (Pubitemid 24003399)
68. Ranen NG, Stine OC, Abbott MH et al. Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease. Am J Hum Genet 1995; 57:593-602.
69. Nance MA, Westphal B, Nugent S. Diagnosis of patients presenting to a Huntington disease (HD) clinic without a family history of HD. Neurology 1996; 47:1578-1580. (Pubitemid 26422559)
70. Myers RH, MacDonald ME, Koroshetz WJ et al. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat Genet 1993; 5:168-173. (Pubitemid 23293453)
71. Alford RL, Ashizawa T, Jankovic J et al. Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease. Am J Med Genet 1996; 66:281-286.
72. 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)
73. Andresen JM, Gayan J, Djousse L et al. The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with Juvenile onset or Adult onset. Ann Hum Genet 2007; 71:295-301. (Pubitemid 46585671)
74. Snell RG, MacMillan JC, Cheadle JP et al. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 1993; 4:393-397. (Pubitemid 23231489)
75. Andrew SE, Goldberg YP, Kremer B et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet 1993; 4:398-403. (Pubitemid 23231490)
76. Duyao M, Ambrose C, Myers R et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 1993; 4:387-392. (Pubitemid 23231488)
77. Marder K, Sandler S, Lechich A et al. Relationship between CAG repeat length and late-stage outcomes in Huntington's disease. Neurology 2002; 59:1622-1624. (Pubitemid 35387072)
78. Ashizawa T, Wong LJ, Richards CS et al. CAG repeat size and clinical presentation in Huntington's disease. Neurology 1994; 44:1137-1143.
79. Illarioshkin SN, Igarashi S, Onodera O et al. Trinucleotide repeat length and rate of progression of Huntington's disease. Ann Neurol 1994; 36:630-635. (Pubitemid 24309375)
80. Kieburtz K, MacDonald M, Shih C et al. Trinucleotide repeat length and progression of illness in Huntington's disease. J Med Genet 1994; 31:872-874. (Pubitemid 24336333)
81. Claes S, Van Zand K, Legius E et al. Correlations between triplet repeat expansion and clinical features in Huntington's disease. Arch Neurol 1995; 52:749-753.
82. Brandt J, Bylsma FW, Gross R et al. Trinucleotide repeat length and clinical progression in Huntington's disease. Neurology 1996; 46:527-531. (Pubitemid 26081344)
83. Penney JB Jr, Vonsattel JP, MacDonald ME et al. CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol 1997; 41:689-692. (Pubitemid 27212666)
84. Squitieri F, Cannella M, Simonelli M. CAG mutation effect on rate of progression in Huntington's disease. Neurol Sci 2002; 23(Suppl 2):S107-108. (Pubitemid 35355799)
85. Telenius H, Kremer B, Goldberg YP et al. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet 1994; 6:409-414. (Pubitemid 24190028)
86. Aronin N, Chase K, Young C et al. CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain. Neuron 1995; 15:1193-1201.
87. Kahlem P, Djian P. The expanded CAG repeat associated with juvenile Huntington disease shows a common origin of most or all neurons and glia in human cerebrum. Neurosci Lett 2000; 286:203-207. (Pubitemid 30314645)
88. Ishiguro H, Yamada K, Sawada H et al. Age-dependent and tissue-specific CAG repeat instability occurs in mouse knock-in for a mutant Huntington's disease gene. J Neurosci Res 2001; 65:289-297. (Pubitemid 32727030)
89. Shelbourne PF, Keller-McGandy C, Bi WL et al. Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain. Hum Mol Genet 2007; 16:1133-1142. (Pubitemid 47062710)
90. Farrer LA, Cupples LA, Wiater P et al. The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD. Am J Hum Genet 1993; 53:125-130. (Pubitemid 23313743)
91. Vuillaume I, Vermersch P, Destee A et al. Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease. Journal of neurology, neurosurgery and psychiatry 1998; 64:758-762. (Pubitemid 28274410)
92. Chattopadhyay B, Ghosh S, Gangopadhyay PK et al. Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India. Neurosci Lett 2003; 345:93-96. (Pubitemid 36734870)
93. Rubinsztein DC, Leggo J, Chiano M et al. Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease. Proc Natl Acad Sci USA 1997; 94:3872-3876. (Pubitemid 27180465)
94. MacDonald ME, Vonsattel JP, Shrinidhi J et al. Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology 1999; 53:1330-1332. (Pubitemid 29480096)
95. Naze P, Vuillaume I, Destee A et al. Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease. Neurosci Lett 2002; 328:1-4. (Pubitemid 34786029)
96. Panas M, Avramopoulos D, Karadima G et al. Apolipoprotein E and presenilin-1 genotypes in Huntington's disease. J Neurol 1999; 246:574-577. (Pubitemid 29376283)
97. Kehoe P, Krawczak M, Harper PS et al. Age of onset in Huntington disease: Sex specific influence of apolipoprotein E genotype and normal CAG repeat length. J Med Genet 1999; 36:108-111. (Pubitemid 29101384)
98. Holbert S, Denghien I, Kiechle T et al. The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: Neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis. Proc Natl Acad Sci USA 2001; 98:1811-1816. (Pubitemid 32165580)
99. Chattopadhyay B, Baksi K, Mukhopadhyay S et al. Modulation of age at onset of Huntington disease patients by variations in TP53 and human caspase activated DNase (hCAD) genes. Neurosci Lett 2005; 374:81-86. (Pubitemid 40092201)
100. Arning L, Kraus PH, Valentin S et al. NR2A and NR2B receptor gene variations modify age at onset in Huntington disease. Neurogenetics 2005; 6:25-28. (Pubitemid 40394827)
101. Arning L, Saft C, Wieczorek S et al. NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner. Hum Genet 2007.
102. Metzger S, Rong J, Nguyen HP et al. Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. Hum Mol Genet 2008; 17:1137-1146. (Pubitemid 351494185)
103. Andresen JM, Gayan J, Cherny SS et al. Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. J Med Genet 2007; 44:44-50. (Pubitemid 46142838)
104. Vonsattel JP, Myers RH, Stevens TJ et al. Neuropathological classification of Huntington's disease. J Neuropathol Exp Neurol 1985; 44:559-577. (Pubitemid 16196286)
105. Richfield EK, Herkenham M. Selective vulnerability in Huntington's disease: Preferential loss of cannabinoid receptors in lateral globus pallidus. Ann Neurol 1994; 36:577-584. (Pubitemid 24309369)
106. Martinez-Mir MI, Probst A, Palacios JM. Adenosine A2 receptors: Selective localization in the human basal ganglia and alterations with disease. Neuroscience 1991; 42:697-706.
107. Richfield EK, O'Brien CF, Eskin T et al. Heterogeneous dopamine receptor changes in early and late Huntington's disease. Neurosci Lett 1991; 132:121-126.
108. Goto S, Hirano A, Rojas-Corona RR. Immunohistochemical visualization of afferent nerve terminals in human globus pallidus and its alteration in neostriatal neurodegenerative disorders. Acta Neuropathol (Berl) 1989; 78:543-550. (Pubitemid 19218290)
109. Dawbarn D, De Quidt ME, Emson PC. Survival of basal ganglia neuropeptide Y-somatostatin neurones in Huntington's disease. Brain Res 1985; 340:251-260. (Pubitemid 15226703)
110. Ferrante RJ, Kowall NW, Beal MF et al. Selective sparing of a class of striatal neurons in Huntington's disease. Science 1985; 230:561-563. (Pubitemid 16169813)
111. Ferrante RJ, Kowall NW, Beal MF et al. Morphologic and histochemical characteristics of a spared subset of striatal neurons in Huntington's disease. J Neuropathol Exp Neurol 1987; 46:12-27. (Pubitemid 17232251)
112. Ferrante RJ, Kowall NW, Richardson EP Jr. Proliferative and degenerative changes in striatal spiny neurons in Huntington's disease: A combined study using the section-Golgi method and calbindin D28k immunocytochemistry. J Neurosci 1991; 11:3877-3887.
113. Lange H, Thorner G, Hopf A et al. Morphometric studies of the neuropathological changes in choreatic diseases. J Neurol Sci 1976; 28:401-425.
114. DiFiglia M, Sapp E, Chase KO et al. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 1997; 277:1990-1993. (Pubitemid 27449140)
115. Graveland GA, Williams RS, DiFiglia M. Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington's disease. Science 1985; 227:770-773. (Pubitemid 15168268)
116. de la Monte SM, Vonsattel JP, Richardson EP Jr. Morphometric demonstration of atrophic changes in the cerebral cortex, white matter and neostriatum in Huntington's disease. J Neuropathol Exp Neurol 1988; 47:516-525.
117. Sotrel A, Paskevich PA, Kiely DK et al. Morphometric analysis of the prefrontal cortex in Huntington's disease. Neurology 1991; 41:1117-1123.
118. Heinsen H, Strik M, Bauer M et al. Cortical and striatal neurone number in Huntington's disease. Acta Neuropathol (Berl) 1994; 88:320-333. (Pubitemid 24309396)
119. Selemon LD, Rajkowska G, Goldman-Rakic PS. Evidence for progression in frontal cortical pathology in late-stage Huntington's disease. J Comp Neurol 2004; 468:190-204. (Pubitemid 37490352)
120. Oyanagi K, Takeda S, Takahashi H et al. A quantitative investigation of the substantia nigra in Huntington's disease. Ann Neurol 1989; 26:13-19. (Pubitemid 19190038)
121. Heinsen H, Rub U, Bauer M et al. Nerve cell loss in the thalamic mediodorsal nucleus in Huntington's disease. Acta Neuropathol (Berl) 1999; 97:613-622. (Pubitemid 29231679)
122. Heinsen H, Rub U, Gangnus D et al. Nerve cell loss in the thalamic centromedian-parafascicular complex in patients with Huntington's disease. Acta Neuropathol (Berl) 1996; 91:161-168. (Pubitemid 26021403)
123. Kremer HP, Roos RA, Dingjan G et al. Atrophy of the hypothalamic lateral tuberal nucleus in Huntington's disease. J Neuropathol Exp Neurol 1990; 49:371-382. (Pubitemid 20207798)
124. Jeste DV, Barban L, Parisi J. Reduced Purkinje cell density in Huntington's disease. Exp Neurol 1984; 85:78-86. (Pubitemid 14088949)
125. Rodda RA. Cerebellar atrophy in Huntington's disease. J Neurol Sci 1981; 50:147-157. (Pubitemid 11137898)
126. Hoffner G, Island ML, Djian P. Purification of neuronal inclusions of patients with Huntington's disease reveals a broad range of N-terminal fragments of expanded huntingtin and insoluble polymers. J Neurochem 2005; 95:125-136. (Pubitemid 41384431)
127. Gutekunst CA, Li SH, Yi H et al. Nuclear and neuropil aggregates in Huntington's disease: Relationship to neuropathology. J Neurosci 1999; 19:2522-2534. (Pubitemid 29162401)
128. Scherzinger E, Lurz R, Turmaine M et al. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 1997; 90:549-558. (Pubitemid 27347244)
129. Huang CC, Faber PW, Persichetti F et al. Amyloid formation by mutant huntingtin: Threshold, progressivity and recruitment of normal polyglutamine proteins. Somat Cell Mol Genet 1998; 24:217-233. (Pubitemid 29316230)
130. Diguet E, Petit F, Escartin C et al. Normal aging modulates the neurotoxicity of mutant huntingtin. PLoS ONE 2009; 4:e4637.
131. Kegel KB, Meloni AR, Yi Y et al. Huntingtin is present in the nucleus, interacts with the transcriptional corepressor C-terminal binding protein and represses transcription. J Biol Chem 2002; 277:7466-7476. (Pubitemid 34953144)
132. Kegel KB, Sapp E, Yoder J et al. Huntingtin associates with acidic phospholipids at the plasma membrane. J Biol Chem 2005; 280:36464-36473. (Pubitemid 41633920)
133. Rockabrand E, Slepko N, Pantalone A et al. The first 17 amino acids of Huntingtin modulate its sub-cellular localization, aggregation and effects on calcium homeostasis. Hum Mol Genet 2007; 16:61-77. (Pubitemid 46156597)
134. Caviston JP, Ross JL, Antony SM et al. Huntingtin facilitates dynein/dynactin-mediated vesicle transport. Proc Natl Acad Sci USA 2007; 104:10045-10050. (Pubitemid 47175260)
135. Strehlow AN, Li JZ, Myers RM. Wild-type huntingtin participates in protein trafficking between the Golgi and the extracellular space. Hum Mol Genet 2007; 16:391-409. (Pubitemid 46323176)
136. Harjes P, Wanker EE. The hunt for huntingtin function: Interaction partners tell many different stories. Trends Biochem Sci 2003; 28:425-433. (Pubitemid 36976745)
137. Li SH, Li XJ. Huntingtin-protein interactions and the pathogenesis of Huntington's disease. Trends Genet 2004; 20:146-154.
138. Sugars KL, Rubinsztein DC. Transcriptional abnormalities in Huntington disease. Trends Genet 2003; 19:233-238. (Pubitemid 36511427)
139. Zhai W, Jeong H, Cui L et al. In vitro analysis of huntingtin-mediated transcriptional repression reveals multiple transcription factor targets. Cell 2005; 123:1241-1253. (Pubitemid 41821782)
140. Sipione S, Rigamonti D, Valenza M et al. Early transcriptional profiles in huntingtin-inducible striatal cells by microarray analyses. Hum Mol Genet 2002; 11:1953-1965. (Pubitemid 34919271)
141. Luthi-Carter R, Hanson SA, Strand AD et al. Dysregulation of gene expression in the R6/2 model of polyglutamine disease: Parallel changes in muscle and brain. Hum Mol Genet 2002; 11:1911-1926.
142. Luthi-Carter R, Strand A, Peters NL et al. Decreased expression of striatal signaling genes in a mouse model of Huntington's disease. Hum Mol Genet 2000; 9:1259-1271. (Pubitemid 30312475)
143. Luthi-Carter R, Strand AD, Hanson SA et al. Polyglutamine and transcription: Gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects. Hum Mol Genet 2002; 11:1927-1937. (Pubitemid 34919269)
144. Kuhn A, Goldstein DR, Hodges A et al. Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage. Hum Mol Genet 2007.
145. Duyao MP, Auerbach AB, Ryan A et al. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 1995; 269:407-410.
146. Zeitlin S, Liu JP, Chapman DL et al. Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat Genet 1995; 11:155-163.
147. Dragatsis I, Dietrich P, Zeitlin S. Expression of the Huntingtin-associated protein 1 gene in the developing and adult mouse. Neurosci Lett 2000; 282:37-40. (Pubitemid 30129163)
148. Perutz MF, Pope BJ, Owen D et al. Aggregation of proteins with expanded glutamine and alanine repeats of the glutamine-rich and asparagine-rich domains of Sup35 and of the amyloid beta-peptide of amyloid plaques. Proc Natl Acad Sci USA 2002; 99:5596-5600. (Pubitemid 34411594)
149. Weiss A, Klein C, Woodman B et al. Sensitive biochemical aggregate detection reveals aggregation onset before symptom development in cellular and murine models of Huntington's disease. J Neurochem 2007.
150. Martindale D, Hackam A, Wieczorek A et al. Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nat Genet 1998; 18:150-154. (Pubitemid 28082462)
151. Kazantsev A, Preisinger E, Dranovsky A et al. Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells. Proc Natl Acad Sci USA 1999; 96:11404-11409. (Pubitemid 29487393)
152. Nucifora FC, Jr, Sasaki M, Peters MF et al. Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity. Science 2001; 291:2423-2428. (Pubitemid 32231807)
153. Steffan JS, Kazantsev A, Spasic-Boskovic O et al. The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc Natl Acad Sci USA 2000; 97:6763-6768. (Pubitemid 30412788)
154. Gunawardena S, Her LS, Brusch RG et al. Disruption of axonal transport by loss of huntingtin or expression of pathogenic polyQ proteins in Drosophila. Neuron 2003; 40:25-40. (Pubitemid 37222462)
155. Trushina E, Dyer RB, Badger JD 2nd et al. Mutant huntingtin impairs
156. Bence NF, Sampat RM, Kopito RR. Impairment of the ubiquitin-proteasome system by protein aggregation. Science 2001; 292:1552-1555. (Pubitemid 32493425)
157. Verhoef LG, Lindsten K, Masucci MG et al. Aggregate formation inhibits proteasomal degradation of polyglutamine proteins. Hum Mol Genet 2002; 11:2689-2700.
158. Venkatraman P, Wetzel R, Tanaka M et al. Eukaryotic proteasomes cannot digest polyglutamine sequences and release them during degradation of polyglutamine-containing proteins. Mol Cell 2004; 14:95-104. (Pubitemid 38469912)
159. Jana NR, Zemskov EA, Wang G et al. Altered proteasomal function due to the expression of polyglutamine- expanded truncated N-terminal huntingtin induces apoptosis by caspase activation through mitochondrial cytochrome c release. Hum Mol Genet 2001; 10:1049-1059. (Pubitemid 32447782)
160. 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)
161. Hunter JM, Lesort M, Johnson GV. Ubiquitin-proteasome system alterations in a striatal cell model of Huntington's disease. J Neurosci Res 2007.
162. Tydlacka S, Wang CE, Wang X et al. Differential activities of the ubiquitin-proteasome system in neurons versus glia may account for the preferential accumulation of misfolded proteins in neurons. J Neurosci 2008; 28:13285-13295.
163. Saudou F, Finkbeiner S, Devys D et al. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 1998; 95:55-66.
164. Slow EJ, Graham RK, Osmand AP et al. Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions. Proc Natl Acad Sci USA 2005; 102:11402-11407. (Pubitemid 41153832)
165. Arrasate M, Mitra S, Schweitzer ES et al. Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature 2004; 431:805-810. (Pubitemid 39434070)
166. Sawada H, Ishiguro H, Nishii K et al. Characterization of neuron-specific huntingtin aggregates in human huntingtin knock-in mice. Neurosci Res 2007; 57:559-573. (Pubitemid 46412522)
167. Mitra S, Tsvetkov AS, Finkbeiner S. Single neuron ubiquitin-proteasome dynamics accompanying inclusion body formation in Huntington disease. J Biol Chem 2009; 284:4398-4403.
168. Gong B, Lim MC, Wanderer J et al. Time-lapse analysis of aggregate formation in an inducible PC12 cell model of Huntington's disease reveals time-dependent aggregate formation that transiently delays cell death. Brain Res Bull 2008; 75:146-157. (Pubitemid 350297653)
169. Li H, Li SH, Yu ZX et al. Huntingtin aggregate-associated axonal degeneration is an early pathological event in Huntington's disease mice. J Neurosci 2001; 21:8473-8481. (Pubitemid 33051446)
170. Li H, Li SH, Johnston H et al. Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity. Nat Genet 2000; 25:385-389. (Pubitemid 32983427)
171. Lee WC, Yoshihara M, Littleton JT. Cytoplasmic aggregates trap polyglutamine-containing proteins and block axonal transport in a Drosophila model of Huntington's disease. Proc Natl Acad Sci USA 2004; 101:3224-3229. (Pubitemid 38327762)
172. DiFiglia M. Clinical Genetics, II. Huntington's disease: From the gene to pathophysiology. Am J Psychiatry 1997; 154:1046. (Pubitemid 27328816)
173. Herbst M, Wanker EE. Small molecule inducers of heat-shock response reduce polyQ-mediated huntingtin aggregation. A possible therapeutic strategy. Neuro-degenerative diseases 2007; 4:254-260. (Pubitemid 47000417)
174. Jana NR, Tanaka M, Wang G et al. Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: Their role in suppression of aggregation and cellular toxicity. Hum Mol Genet 2000; 9:2009-2018. (Pubitemid 30642666)
175. Carmichael J, Chatellier J, Woolfson A et al. Bacterial and yeast chaperones reduce both aggregate formation and cell death in mammalian cell models of Huntington's disease. Proc Natl Acad Sci USA 2000; 97:9701-9705. (Pubitemid 30650839)
176. Vacher C, Garcia-Oroz L, Rubinsztein DC. Overexpression of yeast hsp104 reduces polyglutamine aggregation and prolongs survival of a transgenic mouse model of Huntington's disease. Hum Mol Genet 2005; 14:3425-3433. (Pubitemid 41672126)
177. Perrin V, Regulier E, Abbas-Terki T et al. Neuroprotection by Hsp104 and Hsp27 in Lentiviral-based rat models of Huntington's disease. Mol Ther 2007; 15:903-911. (Pubitemid 46621648)
178. Seo H, Sonntag KC, Kim W et al. Proteasome activator enhances survival of Huntington's disease neuronal model cells. PLoS ONE 2007; 2:e238.
179. Ravikumar B, Berger Z, Vacher C et al. Rapamycin pretreatment protects against apoptosis. Hum Mol Genet 2006; 15:1209-1216.
180. Sarkar S, Perlstein EO, Imarisio S et al. Small molecules enhance autophagy and reduce toxicity in Huntington's disease models. Nature Chemical Biology 2007.
181. Chopra V, Fox JH, Lieberman G et al. A small-molecule therapeutic lead for Huntington's disease: Preclinical pharmacology and efficacy of C2-8 in the R6/2 transgenic mouse. Proc Natl Acad Sci USA 2007; 104:16685-16689. (Pubitemid 350211077)
182. Augood SJ, Faull RL, Emson PC. Dopamine D1 and D2 receptor gene expression in the striatum in Huntington's disease. Ann Neurol 1997; 42:215-221. (Pubitemid 27340467)
183. Augood SJ, Faull RL, Love DR et al. Reduction in enkephalin and substance P messenger RNA in the striatum of early grade Huntington's disease: A detailed cellular in situ hybridization study. Neuroscience 1996; 72:1023-1036. (Pubitemid 26135583)
184. Cha JH, Kosinski CM, Kerner JA et al. Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human Huntington disease gene. Proc Natl Acad Sci USA 1998; 95:6480-6485. (Pubitemid 28249039)
185. Cha JH, Frey AS, Alsdorf SA et al. Altered neurotransmitter receptor expression in transgenic mouse models of Huntington's disease. Philos Trans R Soc Lond B Biol Sci 1999; 354:981-989. (Pubitemid 29477958)
186. Cha JH. Transcriptional signatures in Huntington's disease. Prog Neurobiol 2007.
187. Runne H, Kuhn A, Wild EJ et al. Analysis of potential transcriptomic biomarkers for Huntington's disease in peripheral blood. Proc Natl Acad Sci USA 2007; 104:14424-14429. (Pubitemid 350003277)
188. Borovecki F, Lovrecic L, Zhou J et al. Genome-wide expression profiling of human blood reveals biomarkers for Huntington's disease. Proc Natl Acad Sci USA 2005; 102:11023-11028. (Pubitemid 41105986)
189. Dunah AW, Jeong H, Griffin A et al. Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease. Science 2002; 296:2238-2243. (Pubitemid 34680312)
190. Li SH, Cheng AL, Zhou H et al. Interaction of Huntington disease protein with transcriptional activator Sp1. Mol Cell Biol 2002; 22:1277-1287. (Pubitemid 34150765)
191. Shimohata T, Nakajima T, Yamada M et al. Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription. Nat Genet 2000; 26:29-36.
192. Suhr ST, Senut MC, Whitelegge JP et al. Identities of sequestered proteins in aggregates from cells with induced polyglutamine expression. J Cell Biol 2001; 153:283-294. (Pubitemid 34280215)
193. Bae BI, Xu H, Igarashi S et al. p53 mediates cellular dysfunction and behavioral abnormalities in Huntington's disease. Neuron 2005; 47:29-41. (Pubitemid 40922848)
194. Arango M, Holbert S, Zala D et al. CA150 expression delays striatal cell death in overexpression and knock-in conditions for mutant huntingtin neurotoxicity. J Neurosci 2006; 26:4649-4659. (Pubitemid 44315366)
195. Boutell JM, Thomas P, Neal JW et al. Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin. Hum Mol Genet 1999; 8:1647-1655. (Pubitemid 29423873)
196. Ferrer I, Goutan E, Marin C et al. Brain-derived neurotrophic factor in Huntington disease. Brain Res 2000; 866:257-261. (Pubitemid 30313028)
197. Zuccato C, Ciammola A, Rigamonti D et al. Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science 2001; 293:493-498. (Pubitemid 32679077)
198. Strand AD, Baquet ZC, Aragaki AK et al. Expression profiling of Huntington's disease models suggests that brain-derived neurotrophic factor depletion plays a major role in striatal degeneration. J Neurosci 2007; 27:11758-11768. (Pubitemid 350006916)
199. Lynch G, Kramar EA, Rex CS et al. Brain-derived neurotrophic factor restores synaptic plasticity in a knock-in mouse model of Huntington's disease. J Neurosci 2007; 27:4424-4434. (Pubitemid 46640726)
200. Zuccato C, Tartari M, Crotti A et al. Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes. Nat Genet 2003; 35:76-83. (Pubitemid 37048599)
201. Zuccato C, Belyaev N, Conforti P et al. Widespread disruption of repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy at its target genes in Huntington's disease. J Neurosci 2007; 27:6972-6983. (Pubitemid 47015906)
202. Rigamonti D, Bolognini D, Mutti C et al. Loss of huntingtin function complemented by small molecules acting as re1/nrse silencer modulators. J Biol Chem 2007.
203. Simmons DA, Rex CS, Palmer L et al. Up-regulating BDNF with an ampakine rescues synaptic plasticity and memory in Huntington's disease knockin mice. Proc Natl Acad Sci USA 2009; 106:4906-4911.
204. Taniura H, Sng JC, Yoneda Y. Histone modifications in the brain. Neurochemistry International 2007; 51:85-91. (Pubitemid 47176700)
205. Steffan JS, Bodai L, Pallos J et al. Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. Nature 2001; 413:739-743. (Pubitemid 33009952)
206. Hockly E, Richon VM, Woodman B et al. Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease. Proc Natl Acad Sci USA 2003; 100:2041-2046. (Pubitemid 36254570)
207. Ferrante RJ, Kubilus JK, Lee J et al. Histone deacetylase inhibition by sodium butyrate chemotherapy ameliorates the neurodegenerative phenotype in Huntington's disease mice. J Neurosci 2003; 23:9418-9427. (Pubitemid 37323042)
208. Gardian G, Browne SE, Choi DK et al. Neuroprotective effects of phenylbutyrate in the N171-82Q transgenic mouse model of Huntington's disease. J Biol Chem 2005; 280:556-563. (Pubitemid 40165021)
209. Thomas EA, Coppola G, Desplats PA et al. The HDAC inhibitor 4b ameliorates the disease phenotype and transcriptional abnormalities in Huntington's disease transgenic mice. Proc Natl Acad Sci USA 2008; 105:15564-15569.
210. Pallos J, Bodai L, Lukacsovich T et al. Inhibition of specific HDACs and sirtuins suppresses pathogenesis in a Drosophila model of Huntington's disease. Hum Mol Genet 2008; 17:3767-3775.
211. Sadri-Vakili G, Bouzou B, Benn CL et al. Histones associated with downregulated genes are hypo-acetylated in Huntington's disease models. Hum Mol Genet 2007.
212. Ryu H, Lee J, Hagerty SW et al. ESET/SETDB1 gene expression and histone H3 (K9) trimethylation in Huntington's disease. Proc Natl Acad Sci USA 2006; 103:19176-19181. (Pubitemid 350002846)
213. Yang L, Mei Q, Zielinska-Kwiatkowska A et al. An ERG (ets-related gene)-associated histone methyltransferase interacts with histone deacetylases 1/2 and transcription corepressors mSin3A/B. Biochem J 2003; 369:651-657. (Pubitemid 36246249)
214. Stack EC, Del Signore SJ, Luthi-Carter R et al. Modulation of Nucleosome Dynamics in Huntington's Disease. Hum Mol Genet 2007.
215. Roze E, Betuing S, Deyts C et al. Mitogen- and stress-activated protein kinase-1 deficiency is involved in expanded-huntingtin-induced transcriptional dysregulation and striatal death. FASEB J 2008; 22:1083-1093. (Pubitemid 351519963)
216. Kim MO, Chawla P, Overland RP et al. Altered histone monoubiquitylation mediated by mutant huntingtin induces transcriptional dysregulation. J Neurosci 2008; 28:3947-3957.
217. Rothman SM, Olney JW. Excitotoxicity and the NMDA receptor-still lethal after eight years. Trends Neurosci 1995; 18:57-58.
218. Cull-Candy S, Brickley S, Farrant M. NMDA receptor subunits: Diversity, development and disease. Curr Opin Neurobiol 2001; 11:327-335. (Pubitemid 32524098)
219. Dingledine R, Borges K, Bowie D et al. The glutamate receptor ion channels. Pharmacol Rev 1999; 51:7-61. (Pubitemid 29113865)
220. 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)
221. Sanberg PR, Calderon SF, Giordano M et al. The quinolinic acid model of Huntington's disease: Locomotor abnormalities. Exp Neurol 1989; 105:45-53. (Pubitemid 19198876)
222. Ferrante RJ, Kowall NW, Cipolloni PB et al. Excitotoxin lesions in primates as a model for Huntington's disease: Histopathologic and neurochemical characterization. Exp Neurol 1993; 119:46-71. (Pubitemid 23074242)
223. Cepeda C, Hurst RS, Calvert CR et al. Transient and progressive electrophysiological alterations in the corticostriatal pathway in a mouse model of Huntington's disease. J Neurosci 2003; 23:961-969. (Pubitemid 36206187)
224. Stack EC, Dedeoglu A, Smith KM et al. Neuroprotective effects of synaptic modulation in Huntington's disease R6/2 mice. J Neurosci 2007; 27:12908-12915. (Pubitemid 350159593)
225. Behrens PF, Franz P, Woodman B et al. Impaired glutamate transport and glutamate-glutamine cycling: Downstream effects of the Huntington mutation. Brain 2002; 125:1908-1922.
226. Shin JY, Fang ZH, Yu ZX et al. Expression of mutant huntingtin in glial cells contributes to neuronal excitotoxicity. J Cell Biol 2005; 171:1001-1012.
227. Hassel B, Tessler S, Faull RL et al. Glutamate uptake is reduced in prefrontal cortex in Huntington's disease. Neurochem Res 2007.
228. Zeron MM, Hansson O, Chen N et al. Increased sensitivity to N-methyl-D-aspartate receptor-mediated excitotoxicity in a mouse model of Huntington's disease. Neuron 2002; 33:849-860. (Pubitemid 34246352)
229. Starling AJ, Andre VM, Cepeda C et al. Alterations in N-methyl-D-aspartate receptor sensitivity and magnesium blockade occur early in development in the R6/2 mouse model of Huntington's disease. J Neurosci Res 2005; 82:377-386. (Pubitemid 41552488)
230. 2+-dependent depolarization of rat and human mitochondria: Relevance to Huntington's disease. Archives of Biochemistry and Biophysics 2003; 410:1-6. (Pubitemid 36268790)
231. Panov AV, Gutekunst CA, Leavitt BR et al. Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nature Neuroscience 2002; 5:731-736. (Pubitemid 34827590)
232. 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; 101:241-249. (Pubitemid 46426480)
233. Sun Y, Savanenin A, Reddy PH et al. Polyglutamine-expanded huntingtin promotes sensitization of N-methyl-D-aspartate receptors via postsynaptic density 95. J Biol Chem 2001; 276:24713-24718.
234. Roche KW, Standley S, McCallum J et al. Molecular determinants of NMDA receptor internalization. Nature Neuroscience 2001; 4:794-802. (Pubitemid 32702511)
235. Fan MM, Fernandes HB, Zhang LY et al. Altered NMDA receptor trafficking in a yeast artificial chromosome transgenic mouse model of Huntington's disease. J Neurosci 2007; 27:3768-3779. (Pubitemid 46557661)
236. Metzler M, Gan L, Wong TP et al. NMDA receptor function and NMDA receptor-dependent phosphorylation of huntingtin is altered by the endocytic protein HIP1. J Neurosci 2007; 27:2298-2308. (Pubitemid 46340973)
237. Tang TS, Tu H, Chan EY et al. Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1. Neuron 2003; 39:227-239. (Pubitemid 36897546)
238. Tang TS, Tu H, Orban PC et al. HAP1 facilitates effects of mutant huntingtin on inositol 1,4,5-trisphosphate- induced Ca release in primary culture of striatal medium spiny neurons. Eur J Neurosci 2004; 20:1779-1787. (Pubitemid 39471571)
239. Tang TS, Guo C, Wang H et al. Neuroprotective effects of inositol 1,4,5-trisphosphate receptor C-terminal fragment in a Huntington's disease mouse model. J Neurosci 2009; 29:1257-1266.
240. 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)
241. O'Suilleabhain P, Dewey RB Jr. A randomized trial of amantadine in Huntington disease. Arch Neurol 2003; 60:996-998. (Pubitemid 36858360)
242. Ondo WG, Mejia NI, Hunter CB. A pilot study of the clinical efficacy and safety of memantine for Huntington's disease. Parkinsonism Relat Disord 2007; 13:453-454. (Pubitemid 47446371)
243. Shen YC. Lamotrigine in motor and mood symptoms of Huntington's disease. World J Biol Psychiatry 2008; 9:147-149.
244. Reynolds DS, Carter RJ, Morton AJ. Dopamine modulates the susceptibility of striatal neurons to 3-nitropropionic acid in the rat model of Huntington's disease. J Neurosci 1998; 18:10116-10127. (Pubitemid 28543785)
245. Benchoua A, Trioulier Y, Diguet E et al. Dopamine determines the vulnerability of striatal neurons to the N-terminal fragment of mutant huntingtin through the regulation of mitochondrial complex II. Hum Mol Genet 2008; 17:1446-1456. (Pubitemid 351627341)
246. Cyr M, Sotnikova TD, Gainetdinov RR et al. Dopamine enhances motor and neuropathological consequences of polyglutamine expanded huntingtin. FASEB J 2006; 20:2541-2543.
247. Charvin D, Vanhoutte P, Pages C et al. Unraveling a role for dopamine in Huntington's disease: The dual role of reactive oxygen species and D2 receptor stimulation. Proc Natl Acad Sci USA 2005; 102:12218-12223. (Pubitemid 41291155)
248. Tang TS, Chen X, Liu J et al. Dopaminergic signaling and striatal neurodegeneration in Huntington's disease. J Neurosci 2007; 27:7899-7910. (Pubitemid 47173323)
249. Charvin D, Roze E, Perrin V et al. Haloperidol protects striatal neurons from dysfunction induced by mutated huntingtin in vivo. Neurobiol Dis 2008; 29:22-29. (Pubitemid 350182435)
250. Jakel RJ, Maragos WF. Neuronal cell death in Huntington's disease: A potential role for dopamine. Trends Neurosci 2000; 23:239-245. (Pubitemid 30331108)
251. Petersen AA, Larsen KE, Behr GG et al. Brain-derived neurotrophic factor inhibits apoptosis and dopamine-induced free radical production in striatal neurons but does not prevent cell death. Brain Res Bull 2001; 56:331-335. (Pubitemid 33062357)
252. Garcia M, Charvin D, Caboche J. Expanded huntingtin activates the c-Jun terminal kinase/c-Jun pathway prior to aggregate formation in striatal neurons in culture. Neuroscience 2004; 127:859-870. (Pubitemid 39099551)
253. Apostol BL, Simmons DA, Zuccato C et al. CEP-1347 reduces mutant huntingtin-associated neurotoxicity and restores BDNF levels in R6/2 mice. Mol Cell Neurosci 2008; 39:8-20.
254. 2+ signaling and apoptosis of striatal neurons in the YAC mouse model of Huntington's disease. Neurobiol Dis 2008; 31:80-88.
255. Cepeda C, Ariano MA, Calvert CR et al. NMDA receptor function in mouse models of Huntington disease. J Neurosci Res 2001; 66:525-539. (Pubitemid 33032321)
256. Zeron MM, Fernandes HB, Krebs C et al. Potentiation of NMDA receptor-mediated excitotoxicity linked with intrinsic apoptotic pathway in YAC transgenic mouse model of Huntington's disease. Mol Cell Neurosci 2004; 25:469-479. (Pubitemid 38366412)
257. Paoletti P, Vila I, Rife M et al. Dopaminergic and glutamatergic signaling crosstalk in Huntington's disease neurodegeneration: The role of p25/cyclin-dependent kinase 5. J Neurosci 2008; 28:10090-10101.
258. Anne SL, Saudou F, Humbert S. Phosphorylation of huntingtin by cyclin-dependent kinase 5 is induced by DNA damage and regulates wild-type and mutant huntingtin toxicity in neurons. J Neurosci 2007; 27:7318-7328. (Pubitemid 47037570)
259. Luo S, Vacher C, Davies JE et al. Cdk5 phosphorylation of huntingtin reduces its cleavage by caspases: Implications for mutant huntingtin toxicity. J Cell Biol 2005; 169:647-656. (Pubitemid 41002857)
260. Kaminosono S, Saito T, Oyama F et al. Suppression of mutant Huntingtin aggregate formation by Cdk5/ p35 through the effect on microtubule stability. J Neurosci 2008; 28:8747-8755.
261. de Almeida LP, Ross CA, Zala D et al. Lentiviral-mediated delivery of mutant huntingtin in the striatum of rats induces a selective neuropathology modulated by polyglutamine repeat size, huntingtin expression levels and protein length. J Neurosci 2002; 22:3473-3483. (Pubitemid 37465753)
262. Gauthier LR, Charrin BC, Borrell-Pages M et al. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell 2004; 118:127-138. (Pubitemid 38902819)
263. Sinadinos C, Burbidge-King T, Soh D et al. Live axonal transport disruption by mutant huntingtin fragments in Drosophila motor neuron axons. Neurobiol Dis 2009.
264. Szebenyi G, Morfini GA, Babcock A et al. Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron 2003; 40:41-52. (Pubitemid 37229083)
265. Borrell-Pages M, Zala D, Humbert S et al. Huntington's disease: From huntingtin function and dysfunction to therapeutic strategies. Cell Mol Life Sci 2006; 63:2642-2660. (Pubitemid 44800717)
266. Smith R, Brundin P, Li JY. Synaptic dysfunction in Huntington's disease: A new perspective. Cell Mol Life Sci 2005; 62:1901-1912. (Pubitemid 41261838)
267. Colin E, Zala D, Liot G et al. Huntingtin phosphorylation acts as a molecular switch for anterograde/ retrograde transport in neurons. EMBO J 2008; 27:2124-2134.
268. Dompierre JP, Godin JD, Charrin BC et al. Histone deacetylase 6 inhibition compensates for the transport deficit in Huntington's disease by increasing tubulin acetylation. J Neurosci 2007; 27:3571-3583. (Pubitemid 46515140)
269. Borrell-Pages M, Canals JM, Cordelieres FP et al. Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase. J Clin Invest 2006; 116:1410-1424.
270. del Toro D, Canals JM, Gines S et al. Mutant huntingtin impairs the postGolgi trafficking of brain-derived neurotrophic factor but not its Val66Met polymorphism. J Neurosci 2006; 26:12748-12757. (Pubitemid 44904570)
271. Yanai A, Huang K, Kang R et al. Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function. Nature Neuroscience 2006; 9:824-831.
272. Ohyama T, Verstreken P, Ly CV et al. Huntingtin-interacting protein 14, a palmitoyl transferase required for exocytosis and targeting of CSP to synaptic vesicles. J Cell Biol 2007; 179:1481-1496.
273. Romero E, Cha GH, Verstreken P et al. Suppression of neurodegeneration and increased neurotransmission caused by expanded full-length huntingtin accumulating in the cytoplasm. Neuron 2008; 57:27-40.
274. Hamilton JM, Wolfson T, Peavy GM et al. Rate and correlates of weight change in Huntington's disease. Journal of Neurology, Neurosurgery and Psychiatry 2004; 75:209-212. (Pubitemid 38183525)
275. Djousse L, Knowlton B, Cupples LA et al. Weight loss in early stage of Huntington's disease. Neurology 2002; 59:1325-1330. (Pubitemid 35285981)
276. Arenas J, Campos Y, Ribacoba R et al. Complex I defect in muscle from patients with Huntington's disease. Ann Neurol 1998; 43:397-400. (Pubitemid 28113606)
277. Turner C, Cooper JM, Schapira AH. Clinical correlates of mitochondrial function in Huntington's disease muscle. Mov Disord 2007.
278. Jenkins BG, Rosas HD, Chen YC et al. 1H NMR spectroscopy studies of Huntington's disease: Correlations with CAG repeat numbers. Neurology 1998; 50:1357-1365. (Pubitemid 28240352)
279. Mochel F, Charles P, Seguin F et al. Early energy deficit in Huntington disease: Identification of a plasma biomarker traceable during disease progression. PLoS ONE 2007; 2:e647.
280. Beal MF, Brouillet E, Jenkins BG et al. Neurochemical and histologic characterization of striatal excitotoxic lesions produced by the mitochondrial toxin 3-nitropropionic acid. J Neurosci 1993; 13:4181-4192. (Pubitemid 23299942)
281. Benchoua A, Trioulier Y, Zala D et al. Involvement of mitochondrial complex II defects in neuronal death produced by N-terminus fragment of mutated huntingtin. Mol Biol Cell 2006; 17:1652-1663. (Pubitemid 44011583)
282. Fernandes HB, Baimbridge KG, Church J et al. Mitochondrial sensitivity and altered calcium handling underlie enhanced NMDA-induced apoptosis in YAC128 model of Huntington's disease. J Neurosci 2007; 27:13614-13623. (Pubitemid 350278271)
283. 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)
284. Weydt P, Pineda VV, Torrence AE et al. Thermoregulatory and metabolic defects in Huntington's disease transgenic mice implicate PGC-1alpha in Huntington's disease neurodegeneration. Cell Metab 2006; 4:349-362. (Pubitemid 44645069)
285. Chang DT, Rintoul GL, Pandipati S et al. Mutant huntingtin aggregates impair mitochondrial movement and trafficking in cortical neurons. Neurobiol Dis 2006; 22:388-400.
286. 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)
287. Wang H, Lim PJ, Karbowski M et al. Effects of overexpression of huntingtin proteins on mitochondrial integrity. Hum Mol Genet 2009; 18:737-752.
288. Lesort M, Chun W, Johnson GV et al. Tissue transglutaminase is increased in Huntington's disease brain. J Neurochem 1999; 73:2018-2027. (Pubitemid 29491816)
289. Karpuj MV, Garren H, Slunt H et al. Transglutaminase aggregates huntingtin into nonamyloidogenic polymers and its enzymatic activity increases in Huntington's disease brain nuclei. Proc Natl Acad Sci USA 1999; 96:7388-7393. (Pubitemid 29299671)
290. Dedeoglu A, Kubilus JK, Jeitner TM et al. Therapeutic effects of cystamine in a murine model of Huntington's disease. J Neurosci 2002; 22:8942-8950. (Pubitemid 35379064)
291. Battaglia G, Farrace MG, Mastroberardino PG et al. Transglutaminase 2 ablation leads to defective function of mitochondrial respiratory complex I affecting neuronal vulnerability in experimental models of extrapyramidal disorders. J Neurochem 2007; 100:36-49. (Pubitemid 46090773)
292. Mastroberardino PG, Iannicola C, Nardacci R et al 'Tissue' transglutaminase ablation reduces neuronal death and prolongs survival in a mouse model of Huntington's disease. Cell Death Differ 2002; 9:873-880. (Pubitemid 35023603)
293. Bailey CD, Johnson GV. Tissue transglutaminase contributes to disease progression in the R6/2 Huntington's disease mouse model via aggregate-independent mechanisms. J Neurochem 2005; 92:83-92. (Pubitemid 40193511)
294. Lee JM, Ivanova EV, Seong IS et al. Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism. PLoS Genet 2007; 3:e135.
295. Schilling G, Coonfield ML, Ross CA et al. Coenzyme Q10 and remacemide hydrochloride ameliorate motor deficits in a Huntington's disease transgenic mouse model. Neurosci Lett 2001; 315:149-153. (Pubitemid 33079072)
296. Smith KM, Matson S, Matson WR et al. Dose ranging and efficacy study of high-dose coenzyme Q10 formulations in Huntington's disease mice. Biochim Biophys Acta 2006; 1762:616-626. (Pubitemid 43903119)
297. Ferrante RJ, Andreassen OA, Dedeoglu A et al. Therapeutic effects of coenzyme Q10 and remacemide in transgenic mouse models of Huntington's disease. J Neurosci 2002; 22:1592-1599. (Pubitemid 35386278)
298. Dedeoglu A, Kubilus JK, Yang L et al. Creatine therapy provides neuroprotection after onset of clinical symptoms in Huntington's disease transgenic mice. J Neurochem 2003; 85:1359-1367. (Pubitemid 36702548)
299. Andreassen OA, Dedeoglu A, Ferrante RJ et al. Creatine increase survival and delays motor symptoms in a transgenic animal model of Huntington's disease. Neurobiol Dis 2001; 8:479-491. (Pubitemid 32566138)
300. A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease. Neurology 2001; 57:397-404.
301. Puri BK, Leavitt BR, Hayden MR et al. Ethyl-EPA in Huntington disease: A double-blind, randomized, placebo-controlled trial. Neurology 2005; 65:286-292. (Pubitemid 41022376)
302. Verbessem P, Lemiere J, Eijnde BO et al. Creatine supplementation in Huntington's disease: A placebo-controlled pilot trial. Neurology 2003; 61:925-930. (Pubitemid 37248646)