Huntington's disease and other choreas

Journal of Neurology

Volumn 245, Issue 11, 1998, Pages 709-716

  Quinn, Niall ^a   Schrag, Anette ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Benign hereditary chorea; Chorea; Dentatorubro pallidoluysian atrophy (DRPLA); Huntington's disease; Neuroacanthocytosis

Indexed keywords

AMITRIPTYLINE; ANTIDEPRESSANT AGENT; ANTIOXIDANT; CLOMIPRAMINE; HALOPERIDOL; LUPUS ANTICOAGULANT; NEUROLEPTIC AGENT; PROCYCLIDINE; SCAVENGER; SEROTONIN UPTAKE INHIBITOR; TETRABENAZINE; UBIDECARENONE;

ACANTHOCYTOSIS; ACQUIRED IMMUNE DEFICIENCY SYNDROME; CHOREA; CHOREA MINOR; CLINICAL FEATURE; CLINICAL TRIAL; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DEPRESSION; DRUG INDUCED DISEASE; FAMILY HISTORY; GENETIC ANALYSIS; HUMAN; HUNTINGTON CHOREA; MOTOR DYSFUNCTION; NERVE GRAFT; NONHUMAN; PERIODIC PARALYSIS; PHENOTYPE; POLYCYTHEMIA VERA; PREGNANCY; PRIORITY JOURNAL; REVIEW; SYSTEMIC LUPUS ERYTHEMATOSUS; TARDIVE DYSKINESIA; THYROTOXICOSIS; VASCULAR DISEASE;

AUTOIMMUNE DISEASES; CHOREA; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; HUNTINGTON DISEASE; PREGNANCY; PREGNANCY COMPLICATIONS; VASCULAR DISEASES;

EID: 0031692241     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150050272     Document Type: Review

References (76)

1. Baraitser M, Burn J, Fazzone TA (1983) Huntington's chorea arising as a fresh mutation. J Med Genet 20:459-475
2. Bassen FA, Kornzweig AL (1950) Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 5:381-387
3. Broholm J, Cassiman J-J, Crauford D, Falek A, Farmer-Little C, Hayden M, Kapp R, Krahnen K, Martinez-Descals A, Mol M, Myrianthopoulos N, Petit H, Quaid K, De Somviele C, Taylor E, Tyler A, Walker R, Went L, Wexler N (1994) Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology 44:1533-1536
4. Burke JR, Wingfield MS, Lewis KE, Roses AN, Lee JE, Hulette C, Pericak-Vance MA, Vance JM (1994) The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet 7:521-524
5. Burke JR, Enghild JJ, Martin ME, Jou YS, Myers RM, Roses AD, Vance JM, Strittmatter WJ (1996) Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nat Med 2: 347-350
6. Critchley EM, Clark DB, Wikler A (1968) Acanthocytosis and neurological disorder without abetalipoproteiemia. Arch Neurol 18:134-140
7. Davies SW, Turmaine M, Cozens BA, Di Figlia M, Sharp AH, Ross CA, Scherzinger E, Wanker EE, Mangiarini L, Bates GP (1997) Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90:537-548
8. Davis MB, Bateman D, Quinn NP, Marsden CD, Harding AE (1994) Mutation analysis in patients with possible but apparently sporadic Huntington's disease. Lancet 344:714-717
9. Dewey RB, Jankovic J (1989) Hemiballism-hemichorea. Clinical and pharmacologic findings in 21 patients. Arch Neurol 46:862-867
10. Dijk JG van, Velde EA van der, Roos RAC, Bruyn GW (1986) Juvenile Huntington disease. Hum Genet 73: 235-239
11. Farrer LA, Conneally PM (1985) A genetic model for age at onset in Huntington's disease. Am J Hum Genet 37: 350-357
12. Friedman JH (1990) A case of senile chorea. Mov Disord 5:251-253
13. Garcia Ruiz PJ, Gomez-Tortosa E, Barrio A del, Benitez J, Morales B, Vela L, Castro A, Requena I (1997) Senile chorea: a multicenter prospective study. Acta Neurol Scand 95:180-183
14. Gibb WRG, Less AJ (1989) Tendency to late recurrence following rheumatic chorea. Neurology 39:999
15. Gourfinkel-An I, Cancel G, Trottier Y, Devys D, Tora L, Lutz Y, Imbert G, Saudou F, Stevanin G, Agki Y, Brice A, Mandel J-L, Hirsch EC (1997) Differential distribution of the normal and mutated forms of huntingtin in the human brain. Ann Neurol 42:712-719
16. Gu M, Cooper JM, Gash M, Mann VM, Javoy-Agid F, Schapira AH (1996) Mitochondiral defect in Huntington's disease caudate nucleus. Ann Neurol 39:385-389
17. Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Oltina K, Wallace MR; Sakaguchi AY, et al (1983) A polymorphic DNA marker genetically linked to Huntingion's disease. Nature 306:234-238
18. Haerer AF, Currier RD, Jackson JF (1966) Hereditary nonprogressive chorea of early onset. Neurology 16: 307
19. Hardie RJ, Pullon HWH, Harding AE, Owen JS, Pires M, Daniels GL, Imai Y, Misra VP, King RH, Jacobs JM, et al (1991) Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 114:13-49
20. Huntington Study Group (1996) Unified Huntington's Disease Rating Scale: reliability and consistency. Mov Disord 11:136-142
21. 1H-NMR spectroscopy. Neurology 43: 2689-2695
22. Kalchman MA, Graham RK, Xia G, Koide HB, Hodgson JG, Graham KC, Goldberg YP, Gietz RD, Pickart CM, Hayden MR (1996) Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. J Biol Chem 271:19384-19385
23. Kalchman MA, Koide HB, McCutcheon K, Graham RK, Nichol K, Nishiyama K, Kazemi-Esfarjani P, Lynn FC, Wellington C, Metzler M, Goldberg YP, Kanazawa I, Gietz RD, Hayden MR (1997) HIP1, a human homologue of S. cerevisiae S1a2p, interacts with membrane-associated huntingtin in the brain. Nat Genet 16:44-53
24. Klein C, Wenning GK, Quinn NP, Marsden CD (1996) Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov Disord 11: 217-220
25. Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, et al (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13
26. Komure O, Sano A, Nishino N, Yamauchi N, Ueno S, Kondoh K, Sano N, Takahashi M, Murayama N, Kondo I, Nagafuchi S, Yamada M, Kanazawa I (1995) DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 45:143-149
27. Koroshetz WJ, Jenkins BG, Rosen BR, Beal MF (1997) Energy metabolism defects in Huntington's disease and effects of coenzyme Q10. Ann Neurol 41:160-165
28. Koshy B, Matilla T, Burright EN, Merry DE, Fischbeck KH, Orr HT, Zoghbi HY (1996) Spinocerebellar ataxia type-I and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. Hum Mol Genet 5:1311-1318
29. Kremer B, Goldberg P, Andrew SE, Theilmann J, Telenius H, Zeisler J, Squitieri F, Lin B, Bassett A, Almqvist E, et al (1994) A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. New Engl J Med 330: 1401-1406
30. 18FDG and computed tomographic scan. Ann Neurol 12:425-434
31. Kurth MC, Kopyov OV, Jacques DB, Caviness JN, Duma M, Eagle S, Liebermann N (1997) Safety of fetal tissue transplantation for Huntington's disease. Neurology 48[Suppl 2]:A138
32. Kyllerman M, Forsgren L, Sanner G, Holmgren G, Wahlstrom J, Drugge U (1990) Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. Mov Disord 5:270-279
33. Landwehrmeyer GB, McNeil SM, Dure LS, Ge P, Aizawa H, Huang Q, Ambrose CM, Duyao MP, Bird ED, Bonilla E, et al (1995) Huntington's disease gene: regional and cellular expression in brain of normal and affected individuals. Ann Neurol 37: 218-230
34. Lasker AG, Zee DS, Hain TC, Folstein SE, Singer HS (1987) Saccades in Huntington's disease: initiation defects and distractibility. Neuroloy 37:364-370
35. Levine IM, Estes JW, Looney JM (1968) Hereditary neurological disorder with acanthocytosis. Arch Neurol 19:403-409
36. Li YJ, Li SH, Sharp AH, Nucifora FC Jr, Schilling G, Lanahan A, Worley P, Snyder SH, Ross CA (1995) A huntingtin-associated protein enriched in brain with implications for pathology. Nature 378:398-402
37. MacMillan JC, Morrison PJ, Nevin NC, Shaw DJ, Harper PS, Quarrell OW, Snell RG (1993) Identification of an expanded CAG repeat in the Huntington's disease gene (IT 15) in a family reported to have benign hereditary chorea. J Med Genet 30:1012-1013
38. Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C, Lawton M, Trottier Y, Lehrach H, Davies SW, Bates GP (1996) Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87:493-506
39. Myers RH, Sax DS, Schoenfeld M (1985) Late onset of Huntington's disease. J Neurol Neurosurg Psychiatry 48:530-534
40. η repeat in sporadic Huntington's disease. Nat Genet 5: 168-173
41. Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, et al (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12q. Nat Genet 6:14-18
42. Naito H, Oyanagi S (1982) Familial myoclonus epilepsy and choreoathetosis: hereditary dentotorubral-pallidoluysian atrophy. Neurology 32: 798-807
43. Nielsen JE, Sorensen SA, Hasholt L, Nørremølle A (1996) Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family. Mov Disord 11:533-541
44. Parker WD, Boyson SJ, Luder AS, Parks JK (1990) Evidence for a deficit in NADH: ubiquinone oxidoreductase (complex I) in Huntington's disease. Neurology 40:1231-1234
45. Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, Vig P, Mandel JL, Fischbeck KH, Pittman RN (1997) Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19:333-344
46. Penney JB, Young AB, Shoulson I, Starosta-Rubenstein S, Snodgrass SR, Sanchez-Ramos J, Ramos-Arroyo M, Gomez F, Penchaszadeh G, Alvir J, et al (1990) Huntington's disease in Venezuela: 7 years in follow-up on symptomatic and asymptomatic individuals. Mov Disord 5:93-99
47. Potter NT, Meyer MA, Zimmerman AW, Eisenstadt ML, Anderson IJ (1995) Molecular and clinical findings in a family with dentatorubro-pallidoluysian atrophy. Ann Neurol 37: 273-277
48. Quinn N, Brown R, Crauford D, Goldman S, Hodges J, Kieburtz K, Lindvall O, MacMillan J, Roos R (1996) Core Assessment Program for Intracerebral Transplantation in Huntington's Disease (CAPIT-HD). Mov Disord 11: 143-150
49. Quinn NP (1993) Benign hereditary chorea or hereditary idiopathic dystonia? Mov Disord 8:401-402
50. Quinn NP, Rothwell JC, Thompson PD, Marsden CD (1988) Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. Adv Neurol 50:391-401
51. Ranen NG, Peyser CE, Coyle JT, Bylsma FW Sherr M, Day L, Folstein MF, Brandt J, Ross CA, Folstein SE (1996) A controlled trial of idebenone in Huntington's disease. Mov Disord 11:549-554
52. Rinne JO, Daniel SE, Scaravilli F, Pires M, Harding AE, Marsden CD (1994) The neuropathological features of neuroacanthocytosis. Mov Disord 9: 297-304
53. Roizin L, Stellar S, Liu JC (1979) Neuronal nuclear-cytoplasmic changes in Huntington's chorea: electron microscopic investigations. Adv Neurol 23: 95-122
54. Roos RAC, Hermans J, Vegter-van der Vlis M, Ommen GJB van, Bruyn GW (1993) Duration of illness in Huntington's disease is not related to age at onset. J Neurol Neurosurg Psychiatry 56: 98-100
55. Rubinsztein DC, Leggo J, Coles R, Almqvist E, Biancalana V, Cassiman J-J, Chotai K, Connarty M, Crauford D, Curtis A, Curtis D, Davidson MJ, Differ AM, Dode C, Dodge A, Frontali M, Ranen NG, Stine OC, Sherr M, Abbott MH, Franz ML, Graham CA, Harper PS, Hedreen JC, Hayden MR, et al (1996) Phenotypic characterisation of individuals with 30-40 CAG repeats in the Huntington's disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 59:16-22
56. Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Nemeth AH, Farrall M, Monaco AP (1997) Chorea-acanthocytosis: genetic linkage of chromosome 9q21. Am J Hum Genet 61:899-908
57. Sapp E, Schwarz C, Chase K, Bhide PG, Young AB, Penney J, Vonsattel JP, Aronin N, DiFiglia M (1997) Huntingtin localization in brains of normal and Huntington's disease patients. Ann Neurol 42:604-612
58. Schady W, Meara RJ (1988) Hereditary progressive chorea without dementia. J Neurol Neurosurg Psychiatry 51:295-297
59. Shinotoh H, Calne DB, Snow B, Hayward M, Kremer B, Theilmann J, Hayden MR (1994) Normal CAG repeat length in the Huntington's disease gene in senile chorea. Neurology 44:2183-2184
60. Shoulson I (1986) On chorea. Clin Neuropharmacol 9[Suppl 2]:S85-S89
61. Siesling S, Zwinderman AH, Vugt JPP van, Kieburtz K, Roos RA (1997) A shortened version of the motor section of the unified Huntington's Disease Rating Scale. Mov Disord 12:229-234
62. Simpson SA, Harding AE (1993) Predictive testing for Huntington's disease: after the gene. J Med Genet 30: 1036-1038
63. Sjaastad O, Sulg I, Refsum S (1983) Benign familal myoclonus-like movements, partly of early onset. J Neural Transm [Suppl] 19:291-303
64. Smith JK, Gonda VE, Malamud N (1958) Unusual form of cerebellar ataxia. Combined dentato-rubral and pallido-Luysian degeneration. Neurology 8:205-209
65. Spitz MC, Jankovic J, Killian JM (1985) Familial tic disorder, parkinsonism motor neuron disease and acanthocytosis: a new syndrome. Neurology 35:366-370
66. Steiger MJ, Pires M, Scaravilli F, Quinn NP, Marsden CD (1992) Hemiballism and chorea in a patient with parkinsonism due to a multisystem degeneration. Mov Disord 7: 71-77
67. Swash M, Schwartz MS, Carter ND, Heath R, Leak M, Rogers KL (1983) Benign X-linked myopathy with acanthocytes (McLeod syndrome): its relationship to X-linked muscular dystrophy. Brain 106:717-733
68. The Huntington's Disease Collobarotive Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983
69. Thompson PD, Berardelli A, Rothwell JC, Day BL, Dick JP, Benecke R, Marsden CD (1988) The coexistence of bradykinesia and chorea in Huntington's disease and its implications for theories of basal ganglia control of movement. Brain 111:223-244
70. Titica J, van Bogaert L (1946) Heredo-degenerative hemiballismus. Brain 69: 251-263
71. Van Vugt JPP, Siesling S, Vergeer M, Velde EA van der, Roos RAC (1997) Clozapine versus placebo in Huntington's disease: a double blind randomized comparative study. J Neurol Neurosurg Psychiatry 63:35-39
72. Vidakovic A, Dragasevic N, Kostic V (1994) Hemiballism: report of 25 cases. J Neurol Neurosurg Psychiatriy 57:945-949
73. Vonsattel J-P, Myers RH, Stevens TJ, Ferrante RJ, Bird ED, Richardson EP (1985) Neuropathological classification of Huntington's disease. J Neuropath Exp Neurol 44:559-577
74. Warner TT, Williams LD, Walker RWH, Flinter F, Robb SA, Bundey SE, Honavar M, Harding AE (1995) A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families. Ann Neurol 37:452-459
75. Wexler NS, Young AB, Tanzi RE, Travers H, Starosta-Rubinstein S, Penney JB, Snodgrass SR, Shoulson I, Gomez F, Ramos-Arroyo MA, et al (1987) Homozygotes for Huntington's disease. Nature 326:194-197
76. Xuereb JH, MacMillan JC, Snell R, Davies P, Harper PS (1996) Neuropathological diagnosis and CAG repeat expansion in Huntington's disease. J Neurol Neurosurg Psychiatry 60:78-81