Rodent genetic models of Huntington disease

Neurobiology of Disease

Volumn 32, Issue 1, 2008, Pages 1-9

  Heng, Mary Y ^a,b   Detloff, Peter J ^c   Albin, Roger L ^a,b,d  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d Education   (United States)

Author keywords

Mouse; Polyglutamine; Striatum

Indexed keywords

HUNTINGTIN;

ANIMAL MODEL; ARTIFICIAL CHROMOSOME; CONTROLLED STUDY; GENE EXPRESSION; GENETIC MODEL; HUNTINGTON CHOREA; NEUROPATHOLOGY; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; RAT; REVIEW;

ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; HUNTINGTON DISEASE; MICE; MODELS, GENETIC; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; RATS;

EID: 51349162486     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nbd.2008.06.005     Document Type: Review

References (80)

1. Andresen J.M., 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. 71 (2007) 295-301
2. Andrew S.E., et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat. Genet. 4 (1993) 398-403
3. Antonini A., et al. Striatal glucose metabolism and dopamine D2 receptor binding in asymptomatic gene carriers and patients with Huntington's disease. Brain 119 Pt 6 (1996) 2085-2095
4. Aylward E.H., et al. Rate of caudate atrophy in presymptomatic and symptomatic stages of Huntington's disease. Mov. Disord. 15 (2000) 552-560
5. Aylward E.H., et al. Onset and rate of striatal atrophy in preclinical Huntington disease. Neurology. 63 (2004) 66-72
6. Aylward E.H., et al. Onset and rate of striatal atrophy in preclinical Huntington disease. Neurology. 63 (2004) 66-72
7. Becher M.W., et al. Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length. Neurobiol. Dis. 4 (1998) 387-397
8. Beglinger L.J., et al. White matter volume and cognitive dysfunction in early Huntington's disease. Cogn. Behav. Neurol. 18 (2005) 102-107
9. Benn C.L., et al. Glutamate receptor abnormalities in the YAC128 transgenic mouse model of Huntington's disease. Neuroscience. 147 (2007) 354-372
10. Cao C., et al. Progressive deterioration of reaction time performance and choreiform symptoms in a new Huntington's disease transgenic ratmodel. Behav. Brain Res. 170 (2006) 257-261
11. Carter R.J., et al. Characterization of progressive motor deficits in mice transgenic for the human Huntington's disease mutation. J. Neurosci. 19 (1999) 3248-3257
12. Cha J.H., et al. Altered neurotransmitter receptor expression in transgenic mouse models of Huntington's disease. Philos. Trans. R. Soc. Lond. B. Biol. Sci. 354 (1998) 981-989
13. Cha J.H., et al. Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human huntington disease gene. Proc. Natl. Acad. Sci. U. S. A. 95 (1998) 6480-6485
14. Cha J.H., et al. Altered neurotransmitter receptor expression in transgenic mouse models of Huntington's disease. Philos. Trans. R. Soc. Lond. B. Biol. Sci. 354 (1999) 981-989
15. Conneally P.M. Huntington disease: genetics and epidemiology. Am. J. Hum. Genet. 36 (1984) 506-526
16. Davies S.W., Turmaine M., Cozens B.A., DiFiglia M., Sharp A.H., Ross C.A., Scherzinger E., Wanker E.E., Mangiarini L., and Bates G.P. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90 (1997) 537-548
17. DiFiglia M., et al. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277 (1997) 1990-1993
18. Duff K., et al. Psychiatric symptoms in Huntington's disease before diagnosis: the predict-HD study. Biol. Psychiatry. 62 (2007) 1341-1346
19. Ferrante R.J., et al. Therapeutic effects of coenzyme Q10 and remacemide in transgenic mouse models of Huntington's disease. J. Neurosci. 22 (2002) 1592-1599
20. Gray M., et al. Full-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice. J. Neurosci. 28 (2008) 6182-6195
21. Gusella J.F., and MacDonald M.E. Huntington's disease: CAG genetics expands neurobiology. Curr. Opin. Neurobiol. 5 (1995) 656-662
22. Halliday G.M., et al. Regional specificity of brain atrophy in Huntington's disease. Exp. Neurol. 154 (1998) 663-672
23. Harper P.S. The epidemiology of Huntington's disease. Hum. Genet. 89 (1992) 365-376
24. Heng M.Y., et al. Longitudinal evaluation of the Hdh(CAG)150 knock-in murine model of Huntington's disease. J. Neurosci. 27 (2007) 8989-8998
25. Hickey M.A., et al. Early behavioral deficits in R6/2 mice suitable for use in preclinical drug testing. Neurobiol. Dis. 20 (2005) 1-11
26. Hodgson J.G., Agopyan N., Gutekunst C.A., Leavitt B.R., LePiane F., Singaraja R., Smith D.J., Bissada N., McCutcheon K., Nasir J., Jamot L., Li X.J., Stevens M.E., Rosemond E., Roder J.C., Phillips A.G., Rubin E.M., Hersch S.M., and Hayden M.R. A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron 23 (1999) 181-192
27. Huntington Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72 (1993) 971-983
28. Huntington Study Group. A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease. Neurology 57 (2001) 397-404
29. Hurlbert M.S., et al. Mice transgenic for an expanded CAG repeat in the Huntington's disease gene develop diabetes. Diabetes. 48 (1999) 649-651
30. Johnson S.A., et al. Beyond disgust: impaired recognition of negative emotions prior to diagnosis in Huntington's disease. Brain 130 (2007) 1732-1744
31. Kennedy L., Shelbourne P.F., and Dewar D. Alterations in dopamine benzodiazepine receptor binding precede overt neuronal pathology in mice modelling early Huntington disease pathogenesis. Brain Res. 1039 (2005) 14-21
32. Kremer B., et al. A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N. Engl. J. Med. 330 (1994) 1401-1406
33. Kuhn 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. 16 (2007) 1845-1861
34. Landwehrmeyer G.B., et al. Huntington's disease gene: regional and cellular expression in brain of normal and affected individuals. Ann. Neurol. 37 (1995) 218-230
35. Langbehn D.R., et al. A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin. Genet. 65 (2004) 267-277
36. Lin C.H., et al. Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum. Mol. Genet. 10 (2001) 137-144
37. Lione L.A., et al. Selective discrimination learning impairments in mice expressing the human Huntington's disease mutation. J. Neurosci. 19 (1999) 10428-10437
38. Maat-Schieman M.L., et al. Distribution of inclusions in neuronal nuclei and dystrophic neurites in Huntington disease brain. J. Neuropathol. Exp. Neurol. 58 (1999) 129-137
39. Mangiarini L., et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87 (1996) 493-506
40. Meade C.A., et al. Cellular localization and development of neuronal intranuclear inclusions in striatal and cortical neurons in R6/2 transgenic mice. J. Comp. Neurol. 449 (2002) 241-269
41. Menalled L.B. Knock-in mouse models of Huntington's disease. NeuroRx. 2 (2005) 465-470
42. Menalled L.B., et al. Early motor dysfunction and striosomal distribution of huntingtin microaggregates in Huntington's disease knock-in mice. J. Neurosci. 22 (2002) 8266-8276
43. Menalled L.B., et al. Time course of early motor and neuropathological anomalies in a knock-in mouse model of Huntington's disease with 140 CAG repeats. J. Comp. Neurol. 465 (2003) 11-26
44. Mihm M.J., et al. Cardiac dysfunction in the R6/2 mouse model of Huntington's disease. Neurobiol. Dis. 25 (2007) 297-308
45. Morton A.J., et al. Progressive formation of inclusions in the striatum and hippocampus of mice transgenic for the human Huntington's disease mutation. J. Neurocytol. 29 (2000) 679-702
46. Morton A.J., et al. A combination drug therapy improves cognition and reverses gene expression changes in a mouse model of Huntington's disease. Eur. J. Neurosci. 21 (2005) 855-870
47. Ordway J.M., et al. Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse. Cell 91 (1997) 753-763
48. Orr H.T., and Zoghbi H.Y. Trinucleotide repeat disorders. Annu. Rev. Neurosci. 30 (2007) 575-621
49. Pal A., et al. Regulation of endosome dynamics by Rab5 and Huntingtin-HAP40 effector complex in physiological versus pathological conditions. Methods. Enzymol. 438 (2008) 239-257
50. Penney Jr. J.B., et al. Huntington's disease in Venezuela: 7 years of follow-up on symptomatic and asymptomatic individuals. Mov. Disord. 5 (1990) 93-99
51. Reddy P.H., Williams M., Charles V., Garrett L., Pike-Buchanan L., Whetsell Jr. W.O., and Tagle D.A. Behavioral abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA. Nat. Genet. 20 (1998) 198-202
52. Ribchester R.R., et al. Progressive abnormalities in skeletal muscle and neuromuscular junctions of transgenic mice expressing the Huntington's disease mutation. Eur. J. Neurosci. 20 (2004) 3092-3114
53. Rosas H.D., Hevelone N.D., Zaleta A.K., Greve D.N., Salat D.H., and Fischl B. Regional cortical thinning in preclinical Huntington disease and its relationship to cognition. Neurology 65 (2005) 745-747
54. Rosas H.D., et al. Regional and progressive thinning of the cortical ribbon in Huntington's disease. Neurology 58 (2002) 695-701
55. Rosas H.D., et al. Cerebral cortex and the clinical expression of Huntington's disease: complexity and heterogeneity. Brain 131 (2008) 1057-1068
56. Rubinsztein D.C., 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. 59 (1996) 16-22
57. Schilling G., Becher M.W., Sharp A.H., Jinnah H.A., Duan K., Kotzuk J.A., Slunt H.H., Ratovitski T., Cooper J.K., Jenkins N.A., Copeland N.G., Price D.L., Ross C.A., and Borchelt D.R. Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin. Hum. Mol. Genet. 8 (1999) 397-407
58. Semaka A., et al. Predictive testing for Huntington disease: interpretation and significance of intermediate alleles. Clin. Genet. 70 (2006) 283-294
59. Seneca S., et al. Early onset Huntington disease: a neuronal degeneration syndrome. Eur. J. Pediatr. 163 (2004) 717-721
60. Sharp A.H., et al. Widespread expression of Huntington's disease gene (IT15) protein product. Neuron. 14 (1995) 1065-1074
61. Shelbourne P.F., Killeen N., Hevner R.F., Johnston H.M., Tecott L., Lewandoski M., Ennis M., Ramirez L., Li Z., Iannicola C., Littman D.R., and Myers R.M. A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioral abnormalities in mice. Hum. Mol. Genet. 8 (1999) 763-774
62. Slow E.J., van Raamsdonk J., Rogers D., Coleman S.H., Graham R.K., Deng Y., Oh R., Bissada N., Hossain S.M., Yang Y.Z., Li X.J., Simpson E.M., Gutekunst C.A., Leavitt B.R., and Hayden M.R. Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease. Hum. Mol. Genet. 12 (2003) 1555-1567
63. Solomon A.C., et al. Verbal episodic memory declines prior to diagnosis in Huntington's disease. Neuropsychologia 45 (2007) 1767-1776
64. Stack E.C., et al. Chronology of behavioral symptoms and neuropathological sequela in R6/2 Huntington's disease transgenic mice. J. Comp. Neurol. 490 (2005) 354-370
65. Stine O.C., et al. Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. Hum. Mol. Genet. 2 (1993) 1547-1549
66. Strong T.V., et al. Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues. Nat. Genet. 5 (1993) 259-265
67. Sun Y., et al. Polyglutamine-expanded huntingtin promotes sensitization of N-methyl-d-aspartate receptors via post-synaptic density 95. J. Biol. Chem. 276 (2001) 24713-24718
68. Tallaksen-Greene S.J., et al. Neuronal intranuclear inclusions and neuropil aggregates in HdhCAG(150) knockin mice. Neuroscience. 131 (2005) 843-852
69. Van Raamsdonk J.M., et al. Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease. Hum. Mol. Genet. 14 (2005) 3823-3835
70. Van Raamsdonk J.M., et al. Cognitive dysfunction precedes neuropathology and motor abnormalities in the YAC128 mouse model of Huntington's disease. J. Neurosci. 25 (2005) 4169-4180
71. von Horsten S., et al. Transgenic rat model of Huntington's disease. Hum. Mol. Genet. 12 (2003) 617-624
72. Vonsattel J.P., et al. Neuropathological classification of Huntington's disease. J. Neuropathol. Exp. Neurol. 44 (1985) 559-577
73. Warby, S., et al., 2008. Huntington disease. www.genetests.org.
74. Weeks R.A., et al. Striatal D1 and D2 dopamine receptor loss in asymptomatic mutation carriers of Huntington's disease. Ann. Neurol. 40 (1996) 49-54
75. Wheeler V.C., et al. Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum. Mol. Genet. 9 (2000) 503-513
76. Wheeler V.C., et al. Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum. Mol. Genet. 11 (2002) 633-640
77. Willner, P., 1991. Neuromethods. 18.
78. Woodman B., et al. The Hdh(Q150/Q150) knock-in mouse model of HD and the R6/2 exon 1 model develop comparable and widespread molecular phenotypes. Brain Res. Bull. 72 (2007) 83-97
79. Yu Z.X., et al. Mutant huntingtin causes context-dependent neurodegeneration in mice with Huntington's disease. J. Neurosci. 23 (2003) 2193-2202
80. Zuccato C., et al. Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes. Nat. Genet. 35 (2003) 76-83