Huntington's disease: A decade beyond gene discovery

Current Neurology and Neuroscience Reports

Volumn 3, Issue 4, 2003, Pages 279-284

  Hogarth, Penelope ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR STIMULATING AGENT; AMANTADINE; HISTONE DEACETYLASE INHIBITOR; HUNTINGTIN; LAMOTRIGINE; MINOCYCLINE; REMACEMIDE; RILUZOLE; UBIDECARENONE;

AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; CLINICAL TRIAL; COGNITIVE DEFECT; DEGENERATIVE DISEASE; DISEASE COURSE; DRUG MECHANISM; GENE FUNCTION; GENE MUTATION; HUMAN; HUNTINGTON CHOREA; MEDICAL RESEARCH; MENTAL DISEASE; MOTOR DYSFUNCTION; NONHUMAN; PATHOGENESIS; REVIEW; ANIMAL; GENE THERAPY; GENETICS; METHODOLOGY; PATHOPHYSIOLOGY;

ANIMALS; CLINICAL TRIALS; GENE THERAPY; HUMANS; HUNTINGTON DISEASE;

EID: 0141610594     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-003-0003-3     Document Type: Review

References (46)

1. Huntington G: On chorea. The Medical & Surgical Reporter 1872, 26:320-321.
2. The Huntington's Disease Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993, 72:971-983.
3. Schoenfeld M, Myers RH, Cupples LA, et al.: Increased rate of suicide among patients with Huntington's disease. J Neurol Neurosurg Psychiatry 1984, 47:1283-1287.
4. Folstein SE, Chase GA, Wahl WE, et al.: Huntington disease in Maryland: clinical aspects of racial variation. Am J Hum Genet 1987, 41:168-179.
5. Lipe H, Schultz A, Bird TD: Risk factors for suicide in Huntington's disease: a retrospective case controlled study. Am J Med Genet 1993, 48:231-233.
6. Rosenblatt A, Leroi I: Neuropsychiatry of Huntington's disease and other basal ganglia disorders. Psychosomatics 2000, 41:24-30.
7. Rubinsztein DC, Leggo J, Coles R, et al.: Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 1996, 59:16-22.
8. Almquist E, Elterman D, MacLeod P, Hayden M: High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin Neurogenet 2001, 60:198-205.
9. Rubinsztein DC, Amos W, Leggo J, et al.: Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nat Genet 1994, 7:525-530.
10. Panas M, Avramopoulos D, Karadima G, et al.: Apolipoprotein E and presenilin-1 genotypes in Huntington's disease. J Neurol 1999, 246:574-577.
11. 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.
12. 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 U S A 1997, 94:3872-3876.
13. MacDonald ME, Vonsattel JF, Shrinidhi J, et al.: Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology 1999, 53:1330-1332.
14. Carter RJ, Hunt MJ, Morton AJ: Environmental stimulation increases survival in mice transgenic for exon 1 of the Huntington's disease gene. Mov Disord 2000, 15:925-937.
15. Hockly E, Cordery PM, Woodman B, et al.: Environmental enrichment slows disease progression in R6/2 Huntington's disease mice. Ann Neurol 2002, 51:235-242.
16. Menalled LB, Chesselet MF: Mouse models of Huntington's disease. Trend Pharmacol Sci 2002, 23:32-39.
17. Jackson GR, Salecker I, Dong X, et al.: Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons. Neuron 1998, 21:633-642.
18. Faber PW, Alter JR, MacDonald ME, Hart AC: Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron. Proc Natl Acad Sci U S A 1999, 96:179-184.
19. Duyao MP, Auerbach AB, Ryan A, et al.: Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 1995, 269:407-410.
20. Nasir J, Floresco SB, O'Kusky JR, et al.: Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 1995, 81:811-823.
21. 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.
22. 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.
23. Becher NF, Kotzuk JA, Sharp AH, et al.: Intranuclear neuronal inclusions in Huntington's disease and DRPLA: correlation between the density of inclusions and IT- 15 CAG triplet repeat length. Neurobiol Dis 1998, 4:387-397.
24. Kahlem P, Terre C, Green H, Djian P: Peptides as glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: relevance to diseases of the nervous system. Proc Natl Acad Sci U S A 1996, 93:14580-14585.
25. Perutz MF, Johnson T, Suzuki M, Finch JT: Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc Natl Acad Sci U S A 1994, 91:5355-5358.
26. Sandou F, Finkbeiner S, Devys D, Greenberg ME: Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 1998, 95:55-66.
27. Ambrose CM, Duyao MP, Barnes G, et al.: Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Somatic Cell Mol Genet 1994, 20:27-38.
28. Gervais FG, Singaraja R, Xanthoudakis S, et al.: Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi. Nature Cell Biol 2002, 4:95-105.
29. Bence NF, Sampat RM, Kopito RR: Impairent of the ubiquitin-proteasome system by protein aggregation. Science 2001, 292:1552-1555.
30. 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, 9:1259-1270.
31. Cha JH: Transcriptional dysregulation in Huntington's disease. Trend Neurosci 2000, 23:387-392.
32. Steffan JS, Bodai L, Pallos J, et al.: Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. Nature 2001, 413:739-743.
33. Hackham AS, Singaraja R, Zhang T, et al.: In vitro evidence for both the nucleus and cytoplasmas subcellular sites of pathogenesis in Huntington's disease. Hum Mol Genet 1999, 8:25-33.
34. Dragatsis I, Efstratiadis A, Zeitlin A: Mouse mutant embros lacking huntingtin are rescued from lethality by wild-type extraembryonic tissues. Development 1998, 125:1529-1539.
35. Leavitt BR, Guttman JA, Hodgson JG, et al.: Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo. Am J Hum Genet 2001, 68:313-324.
36. Zuccato C, Ciammola A, Rigamonti D, et al.: Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science 2001, 293:493-498.
37. Perry TL, Wright JM, Hansen S, et al.: Failure of aminooxyacetic acid therapy in Huntington disease. Neurology 1980, 30(7 Pt 1):772-775.
38. Shoulson I, Goldblatt D, Charlton M, Joynt RJ: Huntington's disease: treatment with muscimol, a GABA-mimetic drug. Ann Neurol 1978; 4:279-284.
39. Tell G, Bohlen P, Schechter PJ, et al.: Treatment of Huntington disease with gamma-acetylenic GABA an irreversible inhibitor of GABA-transaminase: increased CSF GABA and homocarnosine without clinical amelioration. Neurology 1981, 31:207-211.
40. Kieburtz K, and the Huntington Study Group: A randomized placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease (CARE-HD). Neurology 2001, 57:376-397.
41. Kremer B, Clark CM, Almqvist EW, et al.: Influence of lamotrigine on progression of early Huntington disease: a randomized clinical trial. Neurology 1999, 53:1000-1011.
42. Rosas HD, Koroshetz WJ, Jenkins BG, et al.: Riluzole therapy in Huntington's disease (HD). Mov Disord 1999, 14:326-330.
43. Seppi K, Mueller J, Bodner T, et al.: Riluzole in Huntington's disease (HD): an open label study with one year follow up. J Neurol 2001, 248:866-869.
44. Verhagen Metman L, Morris MJ, Farmer C, et al.: Huntington's disease: a randomized, controlled trial using the NMDA-antagonist amantadine. Neurology 2002, 59:694-699.
45. Ona VO, Li M, Vonsattel JP, et al.: Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease. Nature 1999, 399:263-267.
46. Chen M, Ona VO, Li M, et al.: Minocycline inhibits caspase-1 and caspase-3 expression and delays mortality in a transgenic mouse model of Huntington disease. Nat Med 2000, 6:797-801.