Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease

Neurology

Volumn 46, Issue 1, 1996, Pages 208-213

  Higgins, J J ^a   Nee, L E ^a   Vasconcelos, O ^a   Ide, S E ^b   Lavedan, C ^b   Goldfarb, L G ^a   Polymeropoulos, M H ^b  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ATAXIA; AUTOSOMAL DOMINANT INHERITANCE; GENE MUTATION; GENETIC LINKAGE; HUMAN; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; NEUROPATHOLOGY; PRIORITY JOURNAL; UNITED STATES;

EID: 0029991809     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.46.1.208     Document Type: Article

References (28)

1. Orr HT, Chung M, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 1993;4:221-226.
2. Gispert S, Twells R, Orozco G, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet 1993;4:295-299.
3. Ranum LPW, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet 1994;8:280-284.
4. Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to chromosome 14q. Nature Genet 1994;4:300-304.
5. Stevanin G, Le Guerm E, Ravisé N, et al. A third locus for autosomal dominant cerebellar ataxia type 1 maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 1994;54:11-20.
6. Gardner K, Alderson K, Galster B, Kaplan C, Leppert M, Ptacek L. Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred [abstract]. Neurology 1994;44(suppl 2):361.
7. Kawaguchi Y, Toshihiro O, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994;8:221-228.
8. Rosenberg RN. Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord 1992;7:193-203.
9. Takiyama Y, Oyanagi S, Kawashima S, et al. A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology 1994;44:1302-1308.
10. Bale AE, Bale SJ, Schlesinger SL, McFarland HF. Linkage analysis in spinopontine atrophy: correlation of HLA linkage with phenotypic findings in hereditary ataxia. Am J Hum Genet 1987;27:592-602.
11. Fourcher E, Barbeau A. Field testing of an ataxia scoring and staging system. Can J Neurol Sci 1980;7:39-344.
12. Campanella G, Filla A, DeFalco F, Mansi D, Durivage A, Barbeau A. Friedreich's ataxia in the south of Italy: a clinical and biochemical survey of 23 patients. Can J Neurol Sci 1980; 7:351-357.
13. DeFalco FA, Mansi D, Ventola F, Filla A, Campanella G. Proposta di una scheda di rilevamento clinico delle heredoatassie spinocerebellari. Acta Neurol (Napoli) 1979;39:103-109.
14. Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72:971-983.
15. 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.
16. LaSpada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Meiotic instability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genet 1993;4:301-304.
17. Strong TV, Tagle DA, Valdes JM, et al. Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissue. Nature Genet 1993;5:259-265.
18. Lima L, Coutinho P. Clinical criteria for diagnosis of Machado-Joseph disease: a report of a non-Azorean Portuguese family. Neurology 1980;30:319-322.
19. Rosenberg RN, Nyhan WL, Bay C, Shore P. Autosomal dominant striatonigral degeneration: a clinical, pathologic and biochemical study of a new genetic disorder. Neurology 1976; 26:703-714.
20. Woods BT, Schaumburg HH. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinicopathologic entity. J Neurol Sci 1972;17:149-166.
21. Sakai T, Ohta M, Ishino H. Joseph disease in a non-Portuguese family. Neurology 1983;33:74-80.
22. Yuasa T, Ohama E, Harayama H, et al. Joseph's disease: clinical and pathologic studies in a Japanese family. Ann Neurol 1986;19:152-157.
23. Boller F, Segarra JM. Spino-pontine degeneration. Eur Neurol 1969;2:356-373.
24. Pogacar S, Ambler M, Conklin WJ, et al. Dominant spinopontine atrophy. Report of two additional members of family W. Arch Neurol 1978;35:156-162.
25. Taniguchi R, Konigsmark BW. Dominant spino-pontine atrophy. Report of a family through three generations. Brain 1971;94:349-358.
26. Snell RG, MacMillan JC, Cheadle JP, et al. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genet 1993;4:393-397.
27. Goldfarb LG, Petersen RB, Tabatan M, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 1992; 258:806-808.
28. Sequieros J, Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. Adv Neurol 1993;61:139-153.