Advances in Huntington's disease: Implications for experimental therapeutics

Current Opinion in Neurology

Volumn 11, Issue 4, 1998, Pages 357-362

  Feigin, Andrew ^a  

^a Movement Disorders Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; ANTIOXIDANT; CYTOSINE; GLUTAMIC ACID; GUANOSINE; HUNTINGTIN; IMMUNOPHILIN; NERVE GROWTH FACTOR; REMACEMIDE; UBIDECARENONE;

ARTICLE; CELL NUCLEUS INCLUSION BODY; DISEASE COURSE; GENE MUTATION; HUMAN; HUNTINGTON CHOREA; MITOCHONDRIAL RESPIRATION; NEUROTRANSMISSION; ONSET AGE; TRANSGENIC MOUSE; TRINUCLEOTIDE REPEAT;

AGE OF ONSET; ANIMALS; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; HUMANS; HUNTINGTON DISEASE; INCLUSION BODIES; MITOCHONDRIA; TRINUCLEOTIDE REPEATS;

EID: 0031719308     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199808000-00012     Document Type: Article

References (61)

1. Marshall FJ, Shoulson I. Clinical features and treatment of Huntington's disease. In: Watt RL, Koller WC (editors): Movement Disorders: Neurologic Principles and Practice. New York: McGraw-Hill Companies Inc; 1997. pp. 491-502.
2. Vonsattel JP, Myers RH, Stevens TJ, Ferrante RJ, Bird ED, Richardson EP Jr. Neuropathological classification of Huntington's disease. J Neuropathol Exp Neurol 1985; 44:559-577.
3. Farrer LA, Conneally PM. A genetic model for age at onset in Huntington's disease. Am J Hum Genet 1985; 37:350-357.
4. Adams P, Falek A, Arnold J. Huntington's disease in Georgia: age at onset. Am J Hum Genet 1988; 43:695-704.
5. Brandt J, Bylsma FW, Gross R, Stine OC, Ranen NG, Ross CA. Trinucleotide repeat length and clinical progression in Huntington's disease. Neurology 1996; 46:527-531.
6. Duyaomp, Ambrose CM, Myers RH, Novelletto A, Persichetti F. Trinucleotide repeat length: instability and age of onset in Huntington's disease. Nature Genet 1993; 4:387-392.
7. Gusella JF, MacDonald ME. CAG genetics expands neurobiology. Curr Opin Neurobiol 1995; 5:656-662.
8. Paulson HL, Fischbeck KH. Trinucleotide repeats in neurogenetic disorders. Annu Rev Neurosci 1996; 19:79-107.
9. Rubinsztein DC, Leggo J, Chiano M, Dodge A, Norbury G, Rosser E, Craufurd D. Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington's disease. Proc Natl Acad Sci 1997; 94: 3872-3876. The authors report that variations in the GluR6 kainate receptor genotype appear to account for some of the variation in the age of onset of Huntington's disease not accounted for by CAG repeat length.
10. Myers RH, Sax DS, Koroshetz WJ, Mastromauro C, Cupples LA, Kiely DK, et al. Factors associated with slow progression in Huntington's disease. Arch Neurol 1991; 48:800-804.
11. Feigin A, Kieburtz K, Bordwell K, Como P, Steinberg K, Sotack J, et al. Functional decline in Huntington's disease. Mov Dis 1995; 10:211-214.
12. Illarioshkin SN, Igarashi S, Onodera O, Markova ED, Nikolskaya NN, Tanaka H, et al. Trinucleotide repeat length and rate of progression of Huntington's disease. Ann Neurol 1994; 36:630.
13. Furtado S, Suchowersky O, Rewcasle NB, Graham L, Klimek ML, Garber A. Relationship between trinucleotide repeats and neuropathological changes in Huntington's disease. Ann Neurol 1996; 39:132-136.
14. Penney JB, Vonsattel J-P, MacDonald ME, Gusella JF, Myers RH. CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol 1997; 41:689-692.
15. 11C] Raclopride-PET studies of the Huntington's disease rate of progression: relevance of the trinucleotide repeat length. Ann Neurol 1998; 48:253-255. A cross-sectional positron emission tomography study demonstrating that the ratio of decreased RAC binding to age correlates with CAG repeat length, and that the slopes of the regression lines of RAC/age plotted against CAG repeat length are different in presymptomatic gene-positive individuals compared with symptomatic patients.
16. Kieburtz K, MacDonald M, Shih C, Feigin A, Steinberg K, Bordwell F, et al. Trinucleotide repeat length and progression of illness in Huntington's disease. J Med Genet 1994; 31:872.
17. Beal MR. Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illnesses? Ann Neurol 1992; 31:119-130.
18. Beal MF, Brouillet E, Jenkins BJ, Ferrante RJ, Kowall NW, Miller JM, et al. Neurochemical and histologic characterization of striatal excitotoxic lesions produced by the mitochondrial toxin 3-nitropropionic acid. J Neurosci 1993; 13:4181-4192.
19. Borlongan CV, Koutouzis TK, Freeman TB, Cahill DW, Sanberg PR. Behavioral pathology induced by repeated systemic injections of 3-nitropropionic acid mimics the motoric symptoms of Huntington's disease. Brain Res 1995; 697:254-257.
20. Kodsi MH, Swerdlow NR. Mitochondrial toxin 3-nitropropionic acid produces startle reflex abnormalities and striatal damage in rats that model some features of Huntington's disease. Neuroscience Letters 1997; 231:103-107.
21. Brennan W, Bird E, Aprille J. Regional mitochondrial respiratory activity in Huntington's disease brain. J Neurochem 1985; 44:1948-1950.
22. Parker WD Jr, Boyson SJ, Luder AS, Parks JK. Evidence for a defect in NADH: Ubiquinone oxidoreductase (complex 1) in Huntington's disease. Neurology 1990; 40:1231-1234.
23. Arenas J, Campos Y, Ribacoba R, Martin MA, Rubio JC, Ablanedo P, Cabello A. Complex I defect in muscle from patients with Huntington's disease. Ann Neurol 1998; 43:397-400.
24. 1H NMR spectroscopy. Neurology 1993; 43:2689-2695.
25. Harms L, Meierkord H, Timm G, Pfeiffer L, Ludolph AC. Decreased N-acetyl-aspartate/choline ratio and increased lactate in the frontal lobe of patients with Huntington's disease: a proton magnetic resonance spectroscopy study. J Neurol Neurosurg Psychiatry 1997; 62:27-30.
26. Albin R, Greenamyre J. Alternative excitotoxic hypotheses. Neurology 1992; 42:733-738
27. Greene J, Greenamyre J. Characterization of the excitotoxic potential of the reversible succinate dehydrogenase inhibitor malonate. J Neurochem 1995; 64:430-436.
28. Young AB, Greenamyre JT, Hollingsworth Z, Albin R, D'Amato C, Shoulson I, Penney JB. NMDA receptor losses in putamen from patients with Huntington's disease. Science 1988; 241:981-983.
29. Beal M, Ferrante R, Swartz K, Kowall N. Chronic quinolinic acid lesions in rats closely resemble Huntington's disease. Neurosci 1991; 11:1649-1659.
30. Arzberger T, Krampfl K, Leimgruber S, Weindl A. Changes of NMDA receptors subunit (NRI, NR2B) and glutamate transporter (GLT1) mRNA expression in Huntington's disease - an in situ hybridization study. J Neuropathol Exp Neurol 1997; 56:440-454.
31. Graveland GA, Williams RS, DiFiglis M. Evidence of degenerative and regenerative changes in neostriatal spiny neurons in Huntington's disease. Science 1985; 227:770-773.
32. Hersch SM, Ferrante RJ. Neuropathology and pathophysiology of Huntington's disease. In: Watts RL, Koller WC (editors): Movement Disorders: Neurologic Principles and Practice. New York: McGraw-Hill Companies Inc; 1997. pp. 503-518.
33. Strong TV, Tagle DA, Valdes JM, Elmer LW, Boehm K, Swaroop M, et al. Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues. Nature Genet 1993; 5:259-265.
34. Landwehrmeyer GB, McNeil SM, Dure LS IV, Ge P, Aizawa H, Huang Q, et al. Huntington's disease gene: regional and cellular expression in brain of normal and affected individuals. Ann Neurol 1995; 37:218-230.
35. Hoogeveen AT, Willemsen R, Meyer N, de Rooij KE, Roos RA, van Ommen GJ, Galjaard H. Characterization and localization of the Huntington's disease gene product. Hum Mol Genet 1993; 2:2069-2073.
36. Ferrante RJ, Gutekunst C-A, Persichetti F, McNeil SM, Kowall NW, Gusella JF, et al. Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum. J Neurosci 1997; 17:3052-3063.
37. Kosinski CM, Cha J-H, Young AB, Persichetti F, MacDonald M, Gusella JF, et al. Huntingtin immunoreactivity in the rat neostriatum: differential accumulation in projection and intemeurons. Exp Neurol 1997; 144:239-247. The authors demonstrate that there is differential neuronal huntingtin immunoreactivity with relatively little huntingtin staining in neurons that are spared in Huntington's disease.
38. Li X-J, Sharp AH, Li S-H, Dawson TM, Snyder SH, Ross CA. Huntingtin-associated protein (HAPI): discrete neuronal localization resemble those of neuronal nitric oxide synthase. Proc Natl Acad Sci USA 1996; 93:4839-4844.
39. Kalchman MA, Koide HB, McCutcheon K, Graham RK, Nichol K, Nishiyama K, et al. HIP1 a human homolog of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. Nature Genet 1997; 16:44-53.
40. Kalchman MA, Graham RK, Xia G, Koide HB, Hodgson JG, Graham KC, et al. Huntingtin is ubiquitinated and interacts with a specific abiquitin conjugated enzyme. J Biol Chem 1996; 271:19385-19394.
41. Burke JR, Enghild JJ, Margin ME, Joy Y-S, Myers RM, Roses AD, et al. Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nature Genet 1996; 2:347-350.
42. Bao J, Sharp AH, Wagster MV, Becher M, Shilling G, Ross CA, et al. Expansion of polyglutamine repeat in huntingtin leads to abnormal protein interactions involving calmodulin. Proc Natl Acad Sci USA 1996; 93:5037-5042.
43. Goldberg YP, Nicholson DW, Rasper DM, Kalchman MA, Koide HB, Graham RK, et al. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglulamine tract. Nature Genet 1996; 13:442-449.
44. Wexler NS, Young AB, Tanzi RE, Travers H, Starosta-Rubinstein S, Penney JB, et al. Homozygotes for Huntington's disease. Nature 1987; 326:194-197.
45. DiFiglia M, Sapp E, Chase K, Schwarz C, Meloni A, Young C, et al. Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 1995; 14:1075-1081.
46. Gutekunst CA, Levey AI, Heilman CJ, Whaley WL, Yi H, Nash NR, et al. Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies. Proc Natl Acad Sci USA 1992; 92:8710-8714.
47. Duyao MP, Auerbach AB, Ryan A, Persichetti F, Bames GT, McNeil SM, et al. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 1995; 269:407-410.
48. Nasir J, Floresco SB, O'Kusky JR, Diewert VM, Richman JM, Zeisler J, 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.
49. White JK, Auerbach W, Duyao MP, Vonsattel J-P, Gusella JF, Joyner AL, MacDonald ME. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nature Genet 1997; 17:404-410.
50. Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C, 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 1996; 87:493-506.
51. Bates GP, Mangiarini L, Amarbirpal M, Davies SW. Transgenic models of Huntington's disease. Hum Mol Genet 1997; 6:1633-1637.
52. Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, et al. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 1997; 90:537-548. The authors report the very important observation of NII in mice transgenic for exon 1 of the gene for Huntington's disease with an expanded CAG repeat, and demonstrate a temporal relationship between the appearance of NII and the development of nuclear membrane abnormalities and symptoms.
53. Scherzinger E, Lurz R, Turmaine M, Mangiarini L, Hollenbach B, Hasenbank R, et al. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 1997; 90:549-558. The authors demonstrate that deavage products of glutathione S-transferase-huntingtin fusion proteins produce amyloid-like plaques in vitro and in transgenic mice, and that cleavage is dependent upon an expansion of the polyglutamine portion of the huntingtin protein.
54. DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, Aronin N. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 1997; 277:1990-1993. The authors describe the presence of NII and dystrophic neurites in human brain with Huntington's disease, and note that the extent of these changes is influenced by polyglutamine expansion.
55. Martindale D, Hackam A, Wieczorek A, Ellerby L, Wellington C, McCutcheon K, et al. Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nature Genet 1998; 18:150-154. This paper presents further evidence that cleavage of huntingtin is required for pathogenesis and for the development of perinuclear aggregates and NII.
56. Kieburtz K, Feigin A, McDermott MP, Como P, Abwender D, Zimmerman C, et al. A controlled trial of remacemide hydrochloride in Huntington's disease. Mov Dis 1996; 11:273-277.
57. Feigin A, Kieburtz K, Como P, Hickey C, Claude K, Abwender D, et al. Assessment of coenzyme Q10 tolerability in Huntington's disease. Mov Dis 1996; 11:321-323.
58. 10. Ann Neurol 1997; 41:160-165.
59. Martinez-Serrano A, Bjorklund A. Protection of the neostriatum against excitotoxic damage by neurotrophin-producing, genetically modified neural stem cells. J Neurosci 1996; 16:4604-4616.
60. Araujo DM, Hilt DC. Glial cell line-derived neurotrophic factor attenuates the excitotoxin-induced behavioral and neurochemical deficits in a rodent model of Huntington's disease. Neurosci 1997; 81:1099-1110.
61. Steiner JP, Connolly MA, Valentine HL, Hamilton GS, Dawson TM, Hester L, Snyder SH. Neurotrophic actions of nonimmunosuppressive analogues of immunosuppressive drugs FK506, rapamycin and cyclosporin A. Nature Med 1997; 3:421-428.