The genetic defect causing Huntington's disease: Repeated in other contexts?

Molecular Medicine

Volumn 3, Issue 4, 1997, Pages 238-246

  Gusella, James F ^a,b   Persichetti, Francesca ^b   MacDonald, Marcy E ^b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

GENETIC ANALYSIS; GENOTYPE; HUMAN; HUNTINGTON CHOREA; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SHORT SURVEY; TRINUCLEOTIDE REPEAT;

EID: 0030948716     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03401677     Document Type: Short Survey

References (92)

1. Martin JB, Gusella JF. (1986) Huntington's disease. Pathogenesis and management. N. Engl. J. Med. 315: 1267-1276.
2. Harper PS. (1992) The epidemiology of Huntington's disease. Hum. Genet. 89: 365-376.
3. Vonsattel JP, Myers RH, Stevens TJ, et al. (1985) Neuropathological classification of Huntington's disease. J. Neuropathol. Exp. Neurol. 44: 559-577.
4. Graveland GA, Williams RS, DiFiglia M. (1985) Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington's disease. Science 227: 770-773.
5. de la Monte SM, Vonsattel JP, Richardson EP, Jr. (1988) Morphometric demonstration of atrophic changes in the cerebral cortex, white matter, and neostriatum in Huntington's disease. J. Neuropathol. Exp. Neurol. 47: 516-525.
6. Hedreen JC, Peyser CE, Folstein SE, et al. (1991) Neuronal loss in layers V and VI of cerebral cortex in Huntington's disease. Neurosci. Lett. 133: 257-261.
7. Gusella JF, Wexler NS, Conneally PM, et al. (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306: 234-238.
8. Gusella JF, Tanzi RE, Anderson MA, et al. (1984) DNA markers for nervous system diseases. Science 225: 1320-1326.
9. Gilliam TC, Tanzi RE, Haines JL, et al. (1987) Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell 50: 565-571.
10. Huntington's Disease Collaborative Research Group. (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72: 971-983.
11. Gusella JF, MacDonald ME. (1993) Hunting for Huntington's disease. Mol. Genet. Med. 3: 139-158.
12. Ambrose CM, Duyao MP, Barnes G, et al. (1994) Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat. Somat. Cell Mol. Genet. 20: 27-38.
13. Persichetti F, Srinidhi J, Kanaley L, et al. (1995) Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains. Neurobiol. Dis. 1: 159-166.
14. Bozza A, Malagu S, Calzolari E, et al. (1995) Expansion of a (CAG)n repeat region in a sporadic case of HD. Acta Neurol. Scand. 92: 132-134.
15. Davis MB, Bateman D, Quinn NP, et al. (1994) Mutation analysis in patients with possible but apparently sporadic Huntington's disease. Lancet 344: 714-717.
16. Durr A, Dode C, Hahn V, et al. (1995) Diagnosis of "sporadic" Huntington's disease. J. Neurol. Sci. 129: 51-55.
17. Goldberg YP, Kremer B, Andrew SE, et al. (1993) Molecular analysis of new mutations for Huntington's disease: Intermediate alleles and sex of origin effects. Nat. Genet. 5: 174-179.
18. Myers RH, MacDonald ME, Koroshetz WJ, et al. (1993) De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat. Genet. 5: 168-173.
19. Myers RH, MacDonald ME, Gusella JF. (1993) Discrepancy resolved. Nat. Genet. 5: 215.
20. Kremer B, Goldberg P, Andrew SE, et al. (1994) A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N. Engl. J. Med. 330: 1401-1406.
21. Andrew SE, Goldberg YP, Kremer B, et al. (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat. Genet. 4: 398-403.
22. Andrew SE, Goldberg YP, Kremer B, et al. (1994) Huntington disease without CAG expansion: Phenocopies or errors in assignment? Am. J. Hum. Genet. 54: 852-863.
23. Barron LH, Warner JP, Porteous M, et al. (1993) A study of the Huntington's disease associated trinucleotide repeat in the Scottish population. J. Med. Genet. 30: 1003-1007.
24. Claes S, Van Zand K, Legius E, et al. (1995) Correlations between triplet repeat expansion and clinical features in Huntington's disease. Arch. Neurol. 52: 749-753.
25. Craufurd D, Dodge A. (1993) Mutation size and age at onset in Huntington's disease. J. Med. Genet. 30: 1008-1011.
26. De Rooij KE, De Koning Gans PA, Skraastad MI, et al. (1993) Dynamic mutation in Dutch Huntington's disease patients: Increased paternal repeat instability extending to within the normal size range. J. Med. Genet. 30: 996-1002.
27. Dode C, Durr A, Pecheux C, et al. (1993) Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis. C. R. Acad. Sci. III. 316: 1374-1380.
28. Duyao M, Ambrose C, Myers R, et al. (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat. Genet. 4: 387-392.
29. Illarioshkin SN, Igarashi S, Onodera O, et al. (1994) Trinucleotide repeat length and rate of progression of Huntington's disease. Ann. Neurol. 36: 630-635.
30. Kieburtz K, MacDonald M, Shih C, et al. (1994) Trinucleotide repeat length and progression of illness in Huntington's disease. J. Med. Genet. 31: 872-874.
31. Lucotte G, Aouizerate A, Loreille O, et al. (1994) Trinucleotide repeat elongation in the huntingtin gene in Huntington's disease patients from 85 French families. Genet Couns. 5: 321-328.
32. Masuda N, Goto J, Murayama N, et al. (1995) Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease. J. Med. Genet. 32: 701-705.
33. Meszaros K, Willinger U, Heiden AM, et al. (1994) Huntington chorea: (CAG)n repeats on gene IT 15 in Austria (in German). Wien Klin. Wochenschr. 106: 671-672.
34. Norremolle A, Riess O, Epplen JT, et al. (1993) Trinucleotide repeat elongation in the huntingtin gene in Huntington disease patients from 71 Danish families. Hum. Mol. Genet. 2: 1475-1476.
35. Norremolle A, Sorensen SA, Fenger K, et al. (1995) Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease. Clin. Genet. 47: 113-117.
36. Novelletto A, Persichetti F, Sabbadini G, et al. (1994) Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum. Mol. Genet. 3: 93-98.
37. Snell RG, MacMillan JC, Cheadle JP, et al. (1993) Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease [see comments]. Nat. Genet. 4: 393-397.
38. Soong BW, Wang JT. (1995) A study on Huntington's disease associated trinucleotide repeat within the Chinese population. Proc. Natl. Sci. Counc. Repub. China B 19: 137-142.
39. Trottier Y, Biancalana V, Mandel JL. (1994) Instability of CAG repeats in Huntington's disease: Relation to parental transmission and age of onset. J. Med. Genet. 31: 377-382.
40. Whitefield JE, Williams L, Snow K, et al. (1996) Molecular analysis of the Huntington's disease gene in New Zealand. N. Z. Med. J. 109: 27-30.
41. Xuereb JH, MacMillan JC, Snell R, et al. (1996) Neuropathological diagnosis and CAG repeat expansion in Huntington's disease. J. Neurol. Neurosurg. Psychiatry 60: 78-81.
42. Zuhlke C, Riess O, Schroder K, et al. (1993) Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin. Hum. Mol. Genet. 2: 1467-1469.
43. Gusella JF, MacDonald ME. (1995) Huntington's disease. Semin. Cell Biol. 6: 21-28.
44. Furtado S, Suchowersky O, Rewcastle B, et al. (1996) Relationship between trinucleotide repeats and neuropathological changes in Huntington's disease. Ann. Neurol. 39: 132-136.
45. Brandt J, Bylsma FW, Gross R, et al. (1996) Trinucleotide repeat length and clinical progression in Huntington's disease. Neurology 46: 527-531.
46. Andrade MA, Bork P. (1995) HEAT repeats in the Huntington's disease protein [letter]. Nat. Genet. 11: 115-116.
47. Baxendale S, Abdulla S, Elgar G, et al. (1995) Comparative sequence analysis of the human and pufferfish Huntington's disease genes. Nat. Genet. 10: 67-76.
48. Barnes GT, Duyao MP, Ambrose CM, et al. (1994) Mouse Huntington's disease gene homolog (Hdh). Somat. Cell Mol. Genet. 20: 87-97.
49. Lin B, Nasir J, MacDonald H, et al. (1994) Sequence of the murine Huntington disease gene: Evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat. Hum. Mol. Genet. 3: 85-92 [Erratum in Hum. Mol. Genet. (1994) 3: 530].
50. Schmitt I, Bachner D, Megow D, et al. (1995) Expression of the Huntington disease gene in rodents: Cloning the rat homologue and evidence for down-regulation in non-neuronal tissues during development. Hum. Mol. Genet. 4: 1173-1182.
51. Gusella JF, MacDonald ME. (1996) Trinucleotide instability: A repeating theme in human inherited disorders. Annu. Rev. Med. 47: 201-209.
52. Fischbeck KH. (1995) The expanded trinucleotide repeat in Kennedy's disease. Proc. Assoc. Am. Physicians 107: 228-230.
53. Brooks BP, Fischbeck KH. (1995) Spinal and bulbar muscular atrophy: A trinucleotide-repeat expansion neurodegenerative disease. Trends Neurosci. 18: 459-461.
54. Burke JR, Wingfield MS, Lewis KE, et al. (1994) The Haw River syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat. Genet. 7: 521-524.
55. Ikeuchi T, Koide R, Onodera O, et al. (1995) Dentatorubral-pallidoluysian atrophy (DR-PLA). Molecular basis for wide clinical features of DRPLA. Clin. Neurosci. 3: 23-27.
56. Ikeuchi T, Onodera O, Oyake M, et al. (1995) Dentatorubral-pallidoluysian atrophy (DRPLA): Close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. Semin. Cell Biol. 6: 37-44.
57. Koide R, Ikeuchi T, Onodera O, et al. (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat. Genet. 6: 9-13.
58. Nagafuchi S, Yanagisawa H, Sato K, et al. (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat. Genet. 6: 14-18.
59. Zoghbi HY, Orr HT. (1995) Spinocerebellar ataxia type 1. Semin. Cell Biol. 6: 29-35.
60. Pulst SM, Nechiporuk A, Nechiporuk T, et al. (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat. Genet. 14: 269-276.
61. Sanpei K, Takano H, Igarashi S, et al. (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat. Genet. 14: 277-284.
62. Imbert G, Saudou F, Yvert G, et al. (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat. Genet. 14: 285-291.
63. Durr A, Stevanin G, Cancel G, et al. (1996) Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features. Ann. Neurol. 39: 490-499.
64. Cancel G, Abbas N, Stevanin G, et al. (1995) Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am. J. Hum. Genet. 57: 809-816.
65. Haberhausen G, Damian MS, Leweke F, et al. (1995) Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD). J. Neurol. Sci. 132: 71-75.
66. Kawaguchi Y, Okamoto T, Taniwaki M, et al. (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet. 8: 221-228.
67. Higgins JJ, Nee LE, Vasconcelos O, et al. (1996) Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology 46: 208-213.
68. Matilla T, McCall A, Subramony SH, et al. (1995) Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann. Neurol. 38: 68-72.
69. Schols L, Vieira-Saecker AM, Schols S, et al. (1995) Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. Hum. Mol. Genet. 4: 1001-1005.
70. Schols L, Amoiridis G, Langkafel M, et al. (1995) Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany. J. Neurol. Neurosurg. Psychiatry 59: 449-450.
71. Zhuchenko O, Bailey J, Bonnen P, et al. (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat. Genet. 15: 62-68.
72. Trottier Y, Lutz Y, Stevanin G, et al. (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378: 403-406.
73. Lindblad K, Savontaus ML, Stevanin G, et al. (1996) An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res. 6: 965-971.
74. MacLean HE, Choi WT, Rekaris G, et al. (1995) Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy). J. Clin. Endocrinol. Metab. 80: 508-516.
75. Kremer B, Squitieri F, Telenius H, et al. (1993) Molecular analysis of late onset Huntington's disease. J. Med. Genet. 30: 991-995.
76. Stine OC, Pleasant N, Franz ML, et al. (1993) Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. Hum. Mol. Genet. 2: 1547-1549.
77. Rubinsztein DC, Barton DE, Davison BC, et al. (1993) Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number. Hum. Mol. Genet. 2: 1713-1715.
78. Ranum LP, Chung MY, Banfi S, et al. (1994) Molecular and clinical correlations in spinocerebellar ataxia type I: Evidence for familial effects on the age at onset. Am. J. Hum. Genet. 55: 244-252.
79. Matilla T, Volpini V, Genis D, et al. (1993) Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Hum. Mol. Genet. 2: 2123-2128.
80. Dubourg O, Durr A, Cancel G, et al. (1995) Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations. Ann. Neurol. 37: 176-180.
81. Goldfarb LG, Vasconcelos O, Platonov FA, et al. (1996) Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann. Neurol. 39: 500-506.
82. Warner TT, Williams LD, Walker RW, et al. (1995) A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families. Ann. Neurol. 37: 452-459.
83. Komure O, Sano A, Nishino N, et al. (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.
84. Norremolle A, Nielsen JE, Sorensen SA, et al. (1995) Elongated CAG repeats of the B37 gene in a Danish family with dentato- rubro-pallido-luysian atrophy. Hum. Genet. 95: 313-318.
85. Ranum LP, Lundgren JK, Schut LJ, et al. (1995) Spinocerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am. J. Hum. Genet. 57: 603-608.
86. Maruyama H, Nakamura S, Matsuyama Z, et al. (1995) Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum. Mol. Genet. 4: 807-812.
87. Maciel P, Gaspar C, DeStefano AL, et al. (1995) Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am. J. Hum. Genet. 57: 54-61.
88. Lang AE, Rogaeva EA, Tsuda T, et al. (1994) Homozygous inheritance of the Machado-Joseph disease gene. Ann. Neurol. 36: 443-447.
89. Sato K, Kashihara K, Okada S, et al. (1995) Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? Neurology 45: 1934-1936.
90. Takiyama Y, Igarashi S, Rogaeva EA, et al. (1995) Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum. Mol. Genet. 4: 1137-1146.
91. Myers RH, Leavitt J, Farrer LA, et al. (1989) Homozygote for Huntington disease. Am. J. Hum. Genet. 45: 615-618.
92. Lerer I, Merims D, Abeliovich D, et al. (1996) Machado-Joseph disease: Correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur. J. Hum. Genet. 4: 3-7.