Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease

Neurogenetics

Volumn 2, Issue 1, 1998, Pages 1-17

  Kanazawa, Ichiro ^a  

^a UNIVERSITY OF TOKYO   (Japan)

Author keywords

Anticipation; Atrophin 1; CAG repeat disease; Dentatorubral pallidoluysian atrophy; Naito Oyanagi disease

Indexed keywords

ACTIN; ADENOSINE TRIPHOSPHATE; ATROPHIN 1; DNA; GENE PRODUCT; GLUTAMINE; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; HUNTINGTIN; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT DISORDER; CELL DEATH; CHROMOSOME 12P; CLINICAL FEATURE; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DIFFERENTIAL DIAGNOSIS; ELECTROENCEPHALOGRAPHY; GENE; HISTOPATHOLOGY; HUMAN; MOSAICISM; NONHUMAN; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVIEW; TRINUCLEOTIDE REPEAT;

ATROPHY; BRAIN; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; HUMANS; JAPAN; MYOCLONIC EPILEPSIES, PROGRESSIVE; NERVE TISSUE PROTEINS; TRINUCLEOTIDE REPEATS;

ATAXIA;

EID: 0032427148     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480050046     Document Type: Review

References (126)

1. Ross CA, Becher MW, Colomer V, Engelender S, Wood JD, Sharp AH (1997) Huntington's disease and dentatorubral-pallidoluysian atrophy: proteins, pathogenesis and pathology. Brain Pathol 7:1003-1016
2. Ross CA, Margolis RL, Rosenblatt A, Ranen NG, Becher MW, Aylward E (1997) Huntington disease and the related disorder, dentatorubral-pallidoluysian atrophy (DRPLA). Medicine (Baltimore) 76:305-338
3. Tsuji S (1997) Molecular genetics of triplet repeats: unstable expansion of triplet repeats as a new mechanism for neurodegenerative diseases. Intern Med 36:3-8
4. Titica J, Bogaert L van (1946) Heredo-degenerative hemiballismus. Brain 69:251-263
5. Smith JK, Gonda VE, Malamud N (1958) Unusual form of cerebellar ataxia. Combined dentato-rubral and pallido-luysian degeneration. Neurology 8:205-209
6. Neumann MA (1959) Combined degeneration of globus pallidus and dentate nucleus and their projections. Neurology 9:430-438
7. Smith JK (1975) Dentatorubropallidoluysian atrophy. In: Vinken PJ, Bruyn G (eds) Handbook of clinical neurology, vol 21. Elsevier, Amsterdam, pp 519-534
8. Naito H, Izawa K, Kurosaki T, Kaji S, Sawa M (1972) Progressive myoclonus epilepsy with Mendelian dominant heredity (in Japanese). Psychiatr Neurol Jpn 74:871-897
9. Oyanagi S, Naito H (1977) A clinico-pathological study on four autopsy cases of degenerative type of myoclonus epilepsy with Medelian dominant heredity (in Japanese). Psychiatr Neurol Jpn 79:113-129
10. Oyanagi S, Tanaka M, Naito H, Shirakawa K, Saito K, Nakamura N, Ohama E (1976) A neuropathological study of 8 autopsy cases of degenerative type of myoclonus epilepsy - with special reference to latent combination of degeneration of pallido-luysian system (in Japanese). Shinkei Shinpo 20:410-424
11. Oyanagi S (1978) On pathology of the chorea - with reference to hereditary paludal and dentate system atrohpy proposed by us (in Japanese). Saishin Igaku 33:236-242
12. Takahata N, Ito K, Yoshimura Y, Nishihori K, Suzuki H (1978) Familial chorea and myoclonus epilepsy. Neurology 28:913-919
13. Naito H, Oyanagi S (1982) Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurology 32:798-807
14. Goto I, Tobimatsu S, Ohta M, Hosokawa S, Shibasaki H, Kuroiwa Y (1982) Dentatorubro-pallidoluysian atrophy: clinical, neuro-ophthalmologic, biochemical, and pathologic studies on autosomal dominant form. Neurology 32:1395-1399
15. Hirayama K (1981) Clinicopathological study of dentatorubropallidoluysian atrophy. I. Its clinical form and analysis of symptomatology (in Japanese). Shinkei Shinpo 25:725-736
16. Iizuka R, Hirayama K, Maehara K (1984) Dentato-rubropallido-luysian atrophy: a clinico-pathological study. J Neurol Neurosurg Psychiatry 47:1288-1298
17. Iizuka R, Hirayama K (1986) Dentato-rubro-pallido-luysian atrophy. In: Vinken PJ, Bruyn GW, Klawans HL (eds) Handbook of clinical neurology, Vol 49. Extrapyramidal disorders. Elsevier, Amsterdam, pp 437-443
18. Naito H (1990) The clinical picture and classification of dentato-rubral-pallidoluysian atrophy (DRPLA) (in Japanese). Shinkei Naika 32:450-456
19. Naito H (1995) Clinical picture of DRPLA (in Japanese). No-to- Shinkei 47:931-938
20. 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
21. Ikeuchi T, Onodera O, Oyake M, Koide R, Tanaka H, Tsuji S (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
22. Ikeuchi T, Koide R, Tanaka H, Onodera O, Igarashi S, Takahashi H, Kondo R, Ishikawa A, Tomoda A, Miike T, Sato K, Ihara Y, Hayabara T, Isa F, Tanabe H, Tokiguchi S, Hayashi M, Shimizu N, Ikurta F, Naito H, Tsuji S (1995) Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 37:769-775
23. Ikeuchi T, Koide R, Onodera O, Tanaka H, Oyake M, Takano H, Tsuji S (1995) Dentatorubral-pallidoluysian atrophy (DRPLA). Clin Neurosci 3:23-27
24. Inazuki G, Baba K, Naito H (1989) Electroencephalographic findings of hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Jpn J Psychiatry Neurol 43:213-220
25. Hattori H, Higuchi Y, Okuno T, Asano R, Fukumoto M, Kondo I (1997) Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy. Epilepsia 38:271-274
26. Saitoh S, Momoi MY, Yamagata T, Miyao M, Suwa K (1998) Clinical and electroencephalographic findings in juvenile type DRPLA. Pediatr Neurol 18:265-268
27. Tokiguchi S, Naito H, Nagai H, Kurashima A, Tsuchiya T, Ito J, Wakabayashi M, Morita M (1987) CT findings of hereditary dentatorubral-pallidoluysian atrophy (DRPLA) (in Japanese). CT-Kenkyu 9:665-672
28. Ihara Y, Namba R, Nobukuni K, Kawai K, Kuroda S (1991) Relation between cerebral white matter damage on CT and MRI and clinical data in DRPLA (pseudo-Huntington form) (in Japanese). Rinsho-Shinkei 31:815-820
29. Mizoi Y, Segawa F, Kamada K, Sunohara N, Nakayama H, Akashi T (1994) Investigation of involvement of cerebral white matter in DRPLA - including MRI perfusion study (in Japanese). No-to-Shinkei 46:145-151
30. Miyazaki M, Kato T, Hashimoto T, Harada M, Kondo I, Kuroda Y (1995) MR of childhood-onset dentatorubral-pallidoluysian atrophy. Am J Neuroradiol 16:1834-1836
31. Uyama E, Kondo I, Uchino M, Fukushima T, Murayama N, Kuwano A, Inokuchi N, Ohtani Y, Ando M (1995) Dentato-rubral-pallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family. J Neurol Sci 130:146-153
32. Otsuka H, Harada M, Hieda M, Takahashi M, Miyoshi K, Miyazaki M, Kondo I, Nishitani H (1996) Magnetic resonance studies of dentato-rubro-pallido-luysian atrophy - Correlation with clinical severity and age of onset (in Japanese). No-to-Shinkei 48:818-823
33. Koide R, Onodera O, Ikeuchi T, Kondo R, Tanaka H, Tokiguchi S, Tomoda A, Miike T, Isa F, Beppu H, Shimizu N, Watanabe Y, Horikawa Y, Shimohama T, Hirota K, Ishikawa A, Tsuji S (1997) Atrophy of the cerebellum and brain-stem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings. Neurology 49:1605-1612
34. 2-weighted MRI signals in the globus pallidus in juvenile-type of dentatorubral and pallidoluysian atrophy. Neuropediatrics 25:234-237
35. Imamura A, Sugai K, Watanabe S, Hamada F, Kurashige T, Takashima S (1994) High intensity in the globus pallidus on proton and T2-weighted MRI in a case of dentato-rubro-pallido-luysian atrophy of myoclonus epilepsy type. Acta Pediatr Jpn 36:527-530
36. Fujii K, Takanashi J, Saito Y, Tamai K, Kondo I, Sugita K, Iimi H (1997) A family of dentatorubral-pallidoluysian atrophy: clinical and neuroradiologic studies (in Japanese). No-to-Hattatsu 29:298-302
37. Nakano T, Iwabuchi K, Yagishita S, Amano N, Akagi M, Yamamoto Y (1985) An autopsy case of dentatorubropallidoluysian atrophy (DRPLA) clinically diagnosed as Huntington's chorea (in Japanese). No-to-Shinkei 37:767-774
38. Iwabuchi K, Amano N, Yokoi S, Nakano T, Yagishita S (1985) Two familial cases of dentato-rubro-pallido-luysian atrophy with pseudo-Huntington's chorea (in Japanese). Rinsho-Shinkei 25:1052-1060
39. Iwabuchi K, Amano N, Yagishita S, Sakai H, Yokoi S (1987) A clinicopathological study on familial cases of dentatorubropallidoluysian atrophy (DRPLA) (in Japanese). Rinsho-Shinkei 27:1002-1012
40. Morioka E, Nakatsu T, Kuroda S, Yamamoto M, Hosokawa K, Otsuki S (1987) An autopsy case of dentatorubropallidoluysian atrophy showing marked atrophy of the brain stem (in Japanese). No-to-Shinkei 39:769-773
41. Takeda S, Takahashi H, Ikuta F (1992) Dentatorubropallidoluysian atrophy (DRPLA): comparative pathological study on clinical groups classified into juvenile, early adult and late adult types (in Japanese). No-to-Shinkei 44: 111-116
42. Takahashi H, Yamada M, Takeda S (1995) Neuropathology of dentatorubral-pallidoluysian atrophy and Machado-Joseph disease (in Japanese). No-to-Shinkei 47:947-953
43. Yagishita S, Inoue M (1997) Clinicopathology of spinocerebellar degeneration: its correlation to the unstable CAG repeat of the affected gene. Pathol Int 47:1-15
44. Matsumoto R, Nakano I, Arai N, Oda M, Yagishita S, Hashizume Y (1998) Loss of the dentate nucleus neurons is associated with torpedo formation: a morphometric study in progressive supranuclear palsy and dentatorubro-pallidoluysian atrophy. Acta Neuropathol (Berl) 95:149-153
45. Takahashi H, Ohama E, Naito H, Takeda S, Nakashima S, Makufuchi T, Ikuta F (1988) Hereditary dentatorubral-pallidoluysian atropohy: clinical and pathologic variants in a family. Neurology 38:1065-1070
46. Mizutani Y, Kondo T (1996) A clinico-pathological biochemical study of four autopsy cases of dentatorubropallidoluysian atrophy: with special reference to choreic movement. Neuropathology 16:56-64
47. Bergmann M, Gullotta F, Gohler D (1990) Dentatus-Ruber-Pallidum-Luysium-Atrophie bei einem Säugling. Klin Pediatr 202:361-364
48. Miyashita K, Inuzuka T, Ishikawa A, Kondo H, Kawakami A, Takeda S, Ikuta F, Yuasa T (1992) Hereditary dentatorubropallidoluysian atrophy - clinical variants in a family and degeneration of cerebral white matter in a proband (in Japanese). No-to-Shinkei 44:279-284
49. Arai K (1995) White matter damage in dentatorubropallidoluysian atrophy: a radiological and neuropathological study. Neuropathology 15:154-162
50. Tuchiya K, Oyanagi S, Ikeda K (1995) Dentatorubropallidoluysian atrophy: clinico-pathological study of eight autopsy cases with special reference to the clinicopathological correlation between pyramidal sign and involvement of the pyramidal tract. Neuropathology 15:145-153
51. Mizukami K, Sasaki M, Shiraishi H, Koizumi J, Ogata T, Kosaka K (1982) An autopsied case of dentatorubropallidoluysian atrophy with atypical pathological features. Jpn J Psychiatry Neurol 46:749-754
52. Farmer TW, Wingfield MS, Lynch SA, Vogel FS, Huelette C, Katchinoff B, Jacobson PL (1989) Ataxia, chorea, seizures and dementia. Pathologic features of a newly defined familial disorder. Arch Neurol 46:774-779
53. Pfeiffer RF, McComb RD (1990) Dentatorubro-pallidoluysian atrophy of the myoclonus epilepsy type with posterior column degeneration. Mov Disord 5:134-138
54. Kanazawa I (1981) Regional distribution of markers for neurotransmitters in the basal ganglia of 'choreic' disorders. In: Katsuki S, Tsubaki T, Toyokura Y (eds) International Congress Series no. 568, Neurology. Excerpta Medica, Amsterdam, pp 220-232
55. Kanazawa I, Sasaki H, Muramoto O, Matsushita M, Mizutani T, Iwabuchi K, Ikeda T, Takahata N (1985) Studies on neurotransmitter markers and striatal neuronal cell density in Huntington's disease and dentatorubropallidoluysian atrophy. J Neurol Sci 70:151-165
56. Nakanishi N, Iwabuchi K, Murakami N, Kurosawa T, Ikeda T, Takahata N, Kanazawa I (1990) Studies on neurotransmitter markers in dentatorubropallidoluysina atrophy, with special reference to the relationship between those markers and neuronal cell density in the cerebellar and the basal ganglial systems (in Japanese). Shinkei-Shinpo 34:156-165
57. Lloyd KG, Hornykiewicz O (1973) L-Glutamic acid decarboxylase in Parkinson's disease - effect of L-dopa therapy. Nature 243:521-523
58. Yoshimoto H, Sahara M, Tanaka K, Ikeuchi T, Koide R, Tsuji S (1995) A sporadic denta-torubral-pallidoluysian atrophy (DRPLA) diagnosed by gene analysis (in Japanese). Rinsho-Shinkei 35:201-203
59. Shimizu N, Yamami T, Nakayama M, Ikeuchi T, Koide R, Tsuji S (1996) A sporadic case of dentatorubral pallidoluysian atrophy (DRPLA) with CAG repeat expansion but no clinical abnormalities in the father. J Neurol Neurosurg Psychiatry 61:113-114
60. Horikawa H, Futamura N, Uetakagaito M (1996) A sporadic case of dentatorubral-pallidoluysian atrophy (DRPLA) having an elderly age of onset (in Japanese). Rhinsho-Shinkei 36:584-586
61. Shimohata T, Ishiguro H, Makino K, Takano H, Tanaka H, Tsuji S, Hirota K (1998) Sporadic cases of dentatorubralpallidoluysian atrophy associated with maternal transmission. Neurology 50:282-283
62. Sano A, Yamauchi N, Kakimoto Y, Komure O, Kawai J, Hazama F, Kuzume K, Sano N, Kondo I (1994) Anticipation in hereditary dentatorubralpallidoluysian atrophy. Hum Genet 93:699-702
63. Kondo I, Kanazawa I (1990) Exclusive mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus. J Med Genet 27:105-108
64. Li SH, Mclnnis MG, Margolis RL, Antonarakis SE, Ross CA (1993) Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 16:572-579
65. Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, Saito M, Tomoda A, Naito H, Ikuta F, Tsuji S (1994) Unstable expansion of CAG repeat in hereditary dentatorubralpallidoluysian atrophy (DRPLA). Nat Genet 6:9-13
66. Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, Tanaka Y, Kikushima H, Umino K, Kurosawa H, Furukawa T, Nihei K, Inoue T, Sano A, Komure O, Takahashi M, Yoshizawa T, Kanazawa I, Yamada M (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 6:14-18
67. Kuwano A, Morimoto Y, Nagai T, Fukushima Y, Ohashi H, Hasegawa T, Kondo I (1996) Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping. Hum Genet 97:95-98
68. Takano T, Yamanouchi Y, Nagafuchi S, Yamada M (1996) Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p13.31 by fluorescence in situ hybridization. Genomics 32:171-172
69. Nagafuchi S, Yanagisawa H, Ohsaki E, Shirayama T, Tadokoro K, Inoue T, Yamada M (1994) Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nat Genet 8:177-182
70. Onodera O, Oyake M, Takano H, Ikeuchi T, Igarashi S, Tsuji S (1995) Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expression of the expanded alleles in the CNS. Am J Hum Genet 57:1050-1060
71. Schmitt I, Epplen JT, Riess O (1995) Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat. Hum Mol Genet 4:1619-1624
72. Loev SJ, Margolis RL, Young WS, Li SH, Schilling G, Ashworth RG, Ross CA (1995) Cloning and expression of the rat atrophin-1 (DRPLA disease gene) homologue. Neurobiol Dis 2:129-138
73. Oyake M, Onodera O, Shiroishi T, Takano H, Takahashi Y, Kominami R, Moriwaki K, Ikeuchi T, Igarashi S, Tanaka H, Tsuji S (1997) Molecular cloning of murine homologue dentatorubral-pallidoluysian atrophy (DRPLA) cDNA: strong conservation of a polymorphic CAG repeat in the murine gene. Genomics 40:205-207
74. n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing. J Med Genet 33:168-170
75. Aoki M, Abe K, Kameya T, Watanabe M, Itoyama Y (1994) Maternal anticipation of DRPLA. Hum Mol Genet 3:1197-1198
76. Aoki M, Abe K, Tobita M, Kameya T, Watanabe M, Itoyama Y (1996) Reduction of CAG expansions in cerebellar cortex and spinal cord of DRPLA. Clin Genet 50:199-201
77. Murata K, Matsumura R, Nakamuro T, Ichikawa S, Takayanagi T (1997) A family with dentato-rubro-pallido-luysian atrophy (DRPLA): an intergenerational construction of the CAG repeat (in Japanese). Rinsho-Shinkei 37:127-130
78. Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontali M, Folstein S, Ross C, Franz M, Abbott M, Gray J, Conneally P, Young A, Penny J, Hollingsworth Z, Shoulson I, Lazzarini A, Falek A, Koroshetz W, Sax D, Bird E, Vonsattel J, Bonilla E, Alvir J, Conde JB, Cha JH, Dure L, Gomez F, Ramos M, Sanchez-Ramos J, Snodgrass S, Young M de, Wexler N, Moscowitz C, Penchaszadeh G, MacFarlane H, Anderson M, Jenkins B, Srinidhi J, Barnes G, Gusella J, MacDonald M (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 4:387-392
79. Telenius H, Kremer B, Golberg YP, Theilmann J, Andrew SE, Zeisler J, Adam S, Greenberg C, Ives EJ, Clarke LA, Hayden MR (1994) Somatic and gonadal mosaicism of Huntington disease gene CAG repeat in brain and sperm. Nat Genet 6:409-414
80. Takiyama Y, Sakoe K, Soutome M, Namekawa M, Ogawa T, Nakano I, Igarashi S, Oyake M, Tanaka H, Tsuji S, Nishizawa M (1997) Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability. Hum Mol Genet 6:1063-1968
81. Burke JR, Ikeuchi T, Koide R, Tsuji S, Yamada M, Paricak-Vance MA, Vance JM (1994) Dentatorubral-pallidolysian atrophy and Haw River syndrome. Lancet 344:1711-1712
82. Burke JR, Wingfield MS, Lewis KE, Roses AD, 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
83. Potter NT, Yanagisawa H, Yamada M (1996) Different origins of expanded repeats for Haw River syndrome and dentatorubral-pallidoluysian atrophy. Lancet 347:1271
84. Sato K, Kashihara K, Okada S, Ikeuchi T, Tsuji S, Shomori T, Morimoto K, Hayabara T (1995) Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? Neurology 45:1934-1936
85. Kurohara K, Kuroda Y, Maruyama H, Kawakami H, Yukitake M, Matswui M, Nakamura S (1997) Homozygosity for an allele carrying intermediate CAG repeats in the dentatorubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia. Neurology 48:1087-1090
86. Warner TT, Williams L, Harding AE (1994) DRPLA in Europe. Nat Genet 6:225
87. Warner TT, Lennox GG, Janota I, Harding AE (1994) Autosomal-dominant dentatorubro-pallidoluysian atrophy in the United Kingdom. Mov Disord 9:289-296
88. Norremolle A, Nielsen JE, Sorensen SA, Hasholt L (1995) Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy. Hum Genet 95:313-318
89. Nielsen JE, Sorensen SA, Hasholt L, Norremolle A (1995) Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family. Mov Disord 11:533-541
90. Warner TT, Williams LD, Walker RWH, Hinter 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
91. Connarty M, Dennis NR, Patch C, Macpherson JN, Harvey JF (1996) Molecular re-investigation of patients with Huntington's disease in Wessex revealed a family with dentatorubral and pallidoluysian atrophy. Hum Genet 97:76-78
92. Becher MW, Rubinsztein DC, Leggo J, Wagster MV, Stine OC, Ranen NG, Franz ML, Abbott MH, Sherr M, MacMillan JC, Barron L, Porteous M, Harper PS, Ross CA (1997) Dentato-rubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees. Mov Disord 12:519-530
93. Leggo J, Dalton A, Morrison PJ, Dodge A, Connarty M, Kotze MJ, Rubinsztein DC (1997) Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in UK. J Med Genet 34:982-985
94. Potter NT, Meyer MA, Zimmerman AW, Eisenstadt ML, Anderson IJ (1995) Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy. Ann Neurol 37:273-277
95. Deka R, Miki T, Yin SJ, McGarvey ST, Shriver MD, Bunker CH, Raskin S, Hundrieser J, Ferrell RE, Chakraborty R (1995) Normal CAG repeat variation at the DRPLA locus in world populations. Am J Hum Genet 57:508-511
96. Yanagisawa H, Fujii K, Nagafuchi S, Nakahori Y, Nakagome Y, Akane A, Nakamura M, Sano A, Komure O, Kondo I, Jin DK, Sorensen SA, Potter NT, Young SR, Nakamura K, Nukina N, Nagao Y, Tadokoro K, Okuyama T, Miyashita T, Inoue T, Kanazawa I, Yamada M (1996) A unique origin and multistep process for the generation of expanded DRPLA triplet repeats. Hum Mol Genet 5:373-379
97. Ueno S, Kondoh K, Kotani Y, Komure O, Kuno S, Kawai J, Hazama F, Sano A (1995) Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Hum Mol Genet 4:663-666
98. Takano H, Onodera O, Takahashi H, Igarashi S, Yamada M, Oyake M, Ikeuchi T, Koide R, Tanaka H, Iwabuchi K, Tsuji S (1996) Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability. Am J Hum Genet 58:1212-1222
99. Tanaka F, Sobue G, Doyu M, Ito Y, Yamamoto M, Shimada N, Yamamoto K, Riku S, Hashizume T (1996) Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeat in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. J Neurol Sci 135:43-50
100. Hashida S, Goto J, Kurisaki H, Mizusawa H, Kanazawa I (1997) Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Josepf disease, and spinocerebellar ataxia type 1. Ann Neurol 41:505-511
101. Sato T, Oyaka M, Nakamura K, Nakao K, Fukusima Y, Onodera O, Igarashi S, Takano H, Kikugawa K, Ishida Y, Shimohata T, Koide R, Ikeuchi T, Tanaka H, Futamura N, Matsumura R, Takayanagi T, Tanaka A, Sobue G, Komure O, Takahashi M, Sano A, Goto J, Kanazawa I, Katsuki M, Tsuji S (1999) Transgenic mice harboring a full-length human mutant DRPLA gene reveal CAG repeat instability. Hum Mol Genet (in press)
102. Ito Y, Tanaka F, Tamamoto M, Doyu M, Nagamatsu M, Riku S, Mitsuma T, Sobue G (1998) Somatic mosaicism of the expanded CAG trinucleotide repeat in mRNAs for responsible gene of Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA), and spinal and bulbar muscular atrophy (SBMA). Neurochem Res 23:25-32
103. Margolis RL, Li SH, Young WS, Wagster MV, Stine OC, Kidwai AS, Ashworth RG, Ross CA (1996) DRPLA gene (atrophin 1) sequence and mRNA expression in human brain. J Neurol Sci 36:219-226
104. Nishiyama K, Nakamura K, Murayama S, Yamada M, Kanazawa I (1997) Regional and cellular expression of the dentatorubral-pallidoluysian atrophy gene in brains of normal and affected individuals. Ann Neurol 41:599-605
105. Yazawa I, Nukina N, Hashida S, Goto J, Yamada M, Kanazawa I (1995) Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nat Genet 10:99-103
106. Yazawa I, Nukina N, Ichikawa Y, Kanazawa I (1996) Dentatorubral-pallidoluysian atrophy proteins in lymphoblastoid cells. Neurology 47:586-588
107. Knight SP, Richardson MM, Osmand AP, Stakkestad A, Potter NT (1997) Expression and distribution of the dentatorubral-pallidoluysian atrophy gene product (atrophin 1/ drplap) in neuronal and non-neuronal tissues. J Neurol Sci 146:19-26
108. Yazawa I, Nukina N, Goto J, Kurisaki H, Hebisawa A, Kanazawa I (1997) Expression of dentatorubral-pallidoluysian atrophy (DRPLA) proteins in patients. Neurosci Lett 225:53-56
109. Yazawa I, Hazeki N, Kanazawa I (1998) Expanded glutamine repeat enhances complex formation of dentatorubral-pallidoluysian atrophy (DRPLA) protein in human brains. Biochem Biophy Res Commun (in press)
110. Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherrington 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
111. 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
112. Wood JD, Yuan J, Margolis RL, Colomer V, Duan K, Kyshi J, Kaminsky Z, Kleiderlein JJ, Sharp AH, Ross CA (1998) Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins. Mol Cell Neurosci 11:149-160
113. Li XJ, Li SH, Sharp AH, Nucifora FC, Schilling G, Lanahan SH, Ross CA (1995) A huntingtin-associated protein enriched in brain with implications for pathology. Nature 378:398-42
114. Perutz MF, Johnson T, Suzuki M, Finch JT (1994) Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc Natl Acad Sci USA 91:5355-5358
115. Davies SW, Turmaine M, Cozens BA, DiFiglia 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
116. 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
117. Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, Zoghbi HY, Orr HT (1997) Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 389:971-974
118. Igarashi S, Koide R, Shimohata T, Yamada M, Hayashi Y, Takano H, Date H, Oyake M, Sato T, Sato A, Egawa S, Ikeuchi T, Tanaka H, Nakano R, Tanaka K, Hozumi I, Inuzuka T, Takahashi H, Tsuji S (1998) Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat Genet 18:111-117
119. Reddy PH, Williams M, Charles V, Garrett L, Pike-Buchanan L, Whetsel WO, Miller G, Tagle DA (1998) Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA. Nat Genet 20:198-202
120. Klement IA, Skinner PJ, Kaytor NM, Yi H, Hersch SM, Clark HB, Zoghbi HY, Orr HT (1998) Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 95:41-53
121. Saudou F, Finkbeiner S, Devys D, Greenberg ME (1998) Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 20:55-66
122. Goldberg YP, Nicholson DW, Rasper DM, Kalchman MA, Koide HB, Graham RK, Bromm M, Kazemi-Esfarjani P, Thornberry NA, Vaillancourt JP, Hayden MR (1996) Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet 13:442-49
123. Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A (1996) Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 13:196-202
124. Miyashita T, Okamura-Ohno Y, Mito Y, Nagafuchi S, Yamada M (1997) Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis. J Biol Chem 272:29238-29242
125. Kahlem P, Terre C, Green H, Djian P (1996) Peptides containing glutamine repeats as substrates for transglutaminase-catalysed cross-linking: relevance to diseases of the nervous system. Proc Natl Acad Sci USA 93:14580-14585
126. Kahlem P, Green H, Djian P (1998) Transglutaminase action imitates Huntington's disease: selective polymerization of Huntingtin containing expanded polyglutamine. Mol Cell 1:595-601