Dentatorubal and pallidoluysian atrophy (DRPLA): Clinical and neuropathological findings in genetically confirmed North American and European pedigrees

Movement Disorders

Volumn 12, Issue 4, 1997, Pages 519-530

  Becher, M W ^a   Rubinsztein, D C ^b   Leggo, J ^b   Wagster, M V ^a   Stine, O C ^a   Ranen, N G ^a   Franz, M L ^a   Abbott, M H ^a   Sherr, M ^a   MacMillan, J C ^c   Barron, L ^d   Porteous, M ^d   Harper, P S ^c   Ross, C A ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Dentate nucleus; Dentatorubral and pallidoluysian atrophy; Huntington's disease

Indexed keywords

ADULT; ANTICIPATION; ARTICLE; ATAXIA; AUTOSOMAL DOMINANT DISORDER; CHOREA; CHROMOSOME 12; CLINICAL ARTICLE; CLINICAL FEATURE; DEGENERATIVE DISEASE; DEMENTIA; DENTATORUBROPALLIDOLUYSIAN ATROPHY; FEMALE; GENETIC ANALYSIS; HUMAN; HUNTINGTON CHOREA; INFANT; MALE; MYOCLONUS SEIZURE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; ATROPHY; BRAIN; BRAIN DISEASE; CASE REPORT; CAUCASIAN; CHILD; DENTATE GYRUS; DIFFERENTIAL DIAGNOSIS; ETHNOLOGY; GENETICS; GLOBUS PALLIDUS; MIDDLE AGED; MOTOR DYSFUNCTION; NEGRO; NERVE DEGENERATION; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; RED NUCLEUS; REVIEW; TRINUCLEOTIDE REPEAT; UNITED KINGDOM; UNITED STATES;

ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; ATROPHY; BRAIN; BRAIN DISEASES; CHILD; CHROMOSOMES, HUMAN, PAIR 12; DENTATE GYRUS; DIAGNOSIS, DIFFERENTIAL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GLOBUS PALLIDUS; GREAT BRITAIN; HUMANS; INFANT; MALE; MIDDLE AGED; MOVEMENT DISORDERS; NERVE DEGENERATION; PEDIGREE; PHENOTYPE; RED NUCLEUS; TRINUCLEOTIDE REPEATS; UNITED STATES;

EID: 0030610409     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.870120408     Document Type: Article

References (76)

1. Smith JK. Dentatorubropallidoluysian atrophy. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 21. Amsterdam: North-Holland, 1975:519-34.
2. Titica J, Van Bogaert L. Heredo-degenerative hemiballismus. A contribution to the question of primary atrophy of the corpus Luysii. Brain 1946;69:251-63.
3. Andre-Van Leeuwen M, Van Bogaert L. Hereditary ataxia with optic atrophy of the retrobulbar neuritis type, and latent pallidoluysian degeneration. Brain 1949;72:340-63.
4. Verhaart WJC. Degeneration of the brain stem reticular formation, other parts of the brain stem and the cerebellum. An example of heterogeneous systemic degeneration of the central nervous system. J Neuropathol Exp Neurol 1958;17:382-91.
5. Smith JK, Gonda VE, Malamud N. Unusual form of cerebellar ataxia. Combined dentato-rubral and pallido-luysian degeneration. Neurology 1958;8:205-9.
6. Neumann MA. Combined degeneration of globus pallidus and dentate nucleus and their projections. Neurology 1959;9:430-8.
7. Naito H, Oyanagi S. Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurology 1982;32:798-807.
8. Goto I, Tobimatsu S, Ohta M, Hosokawa S, Shibasaki H, Kuroiwa Y. Dentatorubro-pallidoluysian degeneration: clinical, neuro-ophthalmologic, biochemical, and pathologic studies on autosomal dominant form. Neurology 1982;32:1395-9.
9. Iizuka R, Hirayama K, Maehara K. Dentato-rubro-pallidoluysian atrophy: a clinico-pathological study. J Neurol Neurosurg Psychiatry 1984;47:1288-98.
10. Takahashi H, Ohama E, Naito H, et al. Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathologic variants in a family. Neurology 1988;38:1065-70.
11. Tomoda A, Ikezawa M, Ohtani Y, Miike T, Kumamoto T. Progressive myoclonus epilepsy: dentato-rubro-pallidoluysian atrophy (DRPLA) in childhood. Brain Dev 1991;13:266-9.
12. Uyama E, Kondo I, Uchino M, et al. Dentatorubralpallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family. J Neurol Sci 1995;130:146-53.
13. Kanazawa I, Sasaki H, Muramoto O, et al. Studies on neurotransmitter markers and striatal neuronal cell density in Huntington's disease and dentatorubropallidoluysian atrophy. J Neurol Sci 1985;70:151-65.
14. Kondo I, Ohta H, Yazaki M, Ikeda J-E, Gusella JF, Kanazawa I. Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus. J Med Genet 1990;27:105-8.
15. Sano A, Yamauchi N, Kakimoto Y, et al. Anticipation in hereditary dentatorubral-pallidoluysian atrophy. Hum Genet 1994;93:699-702.
16. 16: Farmer TW, Wingfield MS, Lynch SA, et al. Ataxia, chorea, seizures and dementia. Pathologic features of a newly defined familial disorder. Arch Neurol 1989;46:774-9.
17. Farmer TW, Wingfield MS, Jacobson PL, Katchinoff BL, Lynch SA, Curnes JT. Neuroimaging of a new familial disorder. Ataxia, chorea, seizures, and dementia. J Neuroimag 1991;l:123-8.
18. Farmer TW, Hulette CM, Vogel FS. In reply: Haw River syndrome or dentato-rubro-pallido-luysian atrophy? Arch Neurol 1992;49:13.
19. HD Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-83.
20. Ross CA, McInnis MG, Margolis RL, Li S-H. Genes with triplet repeats: candidate mediators of neuropsychiatrie disorders. Trends Neurosci 1993;16:254-60.
21. La Spada AR, Paulson HL, Fishbeck KH. Trinucleotide repeat expansion in neurological disease. Ann Neurol 1994;36:814-22.
22. Ross CA. When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 1995;15:493-6.
23. Li S-H, McInnis MG, Margolis RL, Antonarakis SE, Ross CA. Novel triplet repeat containing genes in human brain: loning, expression, and length polymorphisms. Genomics 1993;16:572-9.
24. Nagafuchi S, Yanagisawa H, Sato K, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 1994;6:14-8.
25. Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet 1994;6:9-13.
26. Nagafuchi S, Yanagisawa H, Ohsaki E, et al. Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nature Genet 1994;8:177-82.
27. Loev SJ, Margolis RL, Young WS, et al. Cloning and expression of the rat atrophin-1 (DRPLA disease gene) homologue. Neurobiol Dis 1995;2:129-38.
28. Schmitt I, Epplen JT, Reiss O. Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat. Hum Mol Genet 1995;4:1619-24.
29. Margolis RL, Li S-H, Young WS, et al. DRPLA gene (atrophin-1) sequence and mRNA expression in human brain. Mol Brain Res 1996;36;219-26.
30. Komure O, Sano A, Nishino N, et al. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 1995;45:143-9.
31. Ikeuchi T, Koide R, Tanaka H, et al. Dentatorubralpallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 1995;37:769-75.
32. Miwa S. Triplet repeats strike again. Nature Genet 1994;6:3-4.
33. Pfeiffer RF, McComb RD. Dentatorubro-pallidoluysian atrophy of the myoclonus epilepsy type with posterior column degeneration. Mov Disord 1990;5:134-8.
34. Warner TT, Lennox GG, Janota I, Harding AE. Autosomaldominant dentatorubropallidoluysian atrophy in the United Kingdom, Mov Disord 1994;9:289-96.
35. Warner TT, Williams L, Harding AE. DRPLA in Europe. Nature Genet 1994;6:225.
36. Warner TT, Williams LD, Walker RWH, et al. A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families. Ann Neurol 1995;37:452-9.
37. Norremolle A, Nielsen JE, Sorensen SA, Hasholt L. Elongated CAG repeats of the B37 gene in a Danish family with dentatorubro-pallido-luysian atrophy. Hum Genet 1995;95:313-8.
38. Burke JR, Wingfield MS, Lewis KE, et al. The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nature Genet 1994;7:521-4.
39. Folstein SE, Leigh JR, Parhad IM, Folstein MF. The diagnosis of Huntington's disease. Neurology 1986;36:1279-83.
40. Folstein SE, Chase G, Wahl WE, McDonnell AM, Folstein MF. Huntington disease in Maryland: clinical aspects of racial variation. Am J Hum Genet 1987;41:168-79.
41. Folstein SE. Huntington's disease. A disorder of families. Baltimore: Johns Hopkins Press, 1989.
42. Folstein MF, Folstein SE, McHugh PR. "Mini-Mental State": a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;2:189-98.
43. Folstein SE, Jensen B, Leigh RJ, Folstein MF. The measurement of abnormal movement: methods developed for Huntington's disease. Neurobehav Toxicol Teratol 1983;5:605-9.
44. Duyao M, Ambrose C, Myers R, et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet 1993;4:387-92.
45. MacMillan JC, Snell RG, Tyler A, et al. Molecular analysis and clinical correlations of the Huntington's disease mutation. Lancet 1993;342:954-8.
46. Rubinsztein DC, Barton DE, Davison BCC, Ferguson-Smith MA. Analysis of the Huntington gene reveals a trinucleotide-length polymorphism in the region of the gene that contains wo CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number. Hum Mol Genet 1993;2:1713-5.
47. Snell RG, MacMillan JC, Cheadle JP, et al. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genet 1993;4:393-7.
48. Stine OC, Pleasant N, Franz ML, Abbott MH, Folstein SE, Ross CA. Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. Hum Mol Genet 1993;2:1547-9.
49. Kremer B, Goldberg P, Andrew SE, et al. A worldwide study of the Huntington's disease mutation. N Engl J Med 1994; 330:1401-6.
50. Warner JP, Barron LB, Brock DJP. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded in Huntington's disease chromosomes. Mol Cell Probes 1993;7:235-9.
51. Nakano T, Iwabuchi K, Yagishita S, Amano N, Akagi M, Yamamoto Y. An autopsy case of dentatorubropallidoluysian atrophy (DRPLA) clinically diagnosed as Huntington's chorea [Japanese]. Brain Nerve 1985;39:767-74.
52. Iwabuchi K, Amano N, Yokoi S, Nakano T, Yagishita S. Two familial cases of dentato-rubro-pallidoluysian atrophy with pseudo-Huntington's chorea [Japanese]. Clin Neurol 1985; 25:1052-60.
53. Potter NT, Meyer MA, Zimmerman AW, Eisenstadt ML, Anderson IJ. Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy. Ann Neurol 1995;37:273-7.
54. Gross KB, Skrivanek JA, Carlson KC, Kaufman DM. Familial amyotrophic chorea with acanthocytosis. New clinical and laboratory investigations. Arch Neurol 1985;42:753-6.
55. Zweig RM, Koven SJ, Hedreen JC, Maestri NE, Kazazian HH Jr, Folstein SE. Linkage to the Huntington's disease locus in a family with unusual clinical and pathological features. Ann Neurol 1989;26:78-84.
56. Albin RL, Young AB, Penney JB. The functional anatomy of basal ganglia disorders. Trends Neurosci 1989;12:366-75.
57. Hedreen JC, Folstein SE. Early loss of neostriatal striosome neurons in Huntington's disease. J Neuropathol Exp Neurol 1995;54:105-20.
58. Harper PS. Huntington's disease. London: Saunders, 1991.
59. Cancel G, Durr A, Stevanin G, et al. Is DRPLA also linked to 14q? Nature Genet 1994;6:8.
60. Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet 1993;4:300-6.
61. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions n a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994;8:221-8.
62. Stevanin G, LeGuern E, Ravise N, et al. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 1994;54:11-20.
63. Takiyama Y, Oyanagi S, Kawashima S, et al. A clinical and pathologic study of a large Japanese family with MachadoJoseph disease tightly linked to the DNA markers on chromosome 14q. Neurology 1994;44:1302-8.
64. Singer C. Haw River syndrome or dentato-rubro-pallidoluysian atrophy? Arch Neurol 1992;49:13.
65. Trottier Y, Devys D, Imbert G, et al. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nature Genet 1995;10:104-10.
66. Green H. Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell 1993; 74:955-6.
67. Perutz MF, Johnson T, Suzuki M, Finch JT. Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc Natl Acad Sci USA 1994;91:5355-8.
68. Housman D. Gain of glutamines, gain of function? Nature Genet 1995;10:3-4.
69. Strong TV, Tagle DA, Valdes JM, et al. Widespread expression of the human and rat Huntington's disease gene in brain and nonneuronal tissues. Nature Genet 1993;5:259-65.
70. Li S-H, Schilling G, Young WS III, et al. Huntington's disease gene (IT-15) is widely expressed in human and rat tissues. Neuron 1993;11:985-93.
71. Sharp AH, Loev SJ, Schilling G, et al. Widespread expression of Huntington's disease gene (IT15) protein product. Neuron 1995;14:1065-74.
72. DiFiglia M, Sapp E, Chase K, et al. Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 1995;14:1075-81.
73. Gutekunst C-A, Levey AI, Heilman CJ, et al. Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies. Proc Natl Acad Sci USA 1995;92:8710-4.
74. Persichetti F, Ambrose CM, Ge P, et al. Normal and expanded Huntington's disease gene alleles produce distinguishable proteins due to translation across the CAG repeat. Mol Med 1995;1:379-83.
75. Yazawa I, Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nature Genet 1995;10:99-103.
76. Li X-J, Li S-H, Sharp AH, et al. A Huntington-associated protein enriched in brain with implications for pathology. Nature 1995;23:398-402.