Psychological consequences of genetic testing for spinocerebellar ataxia in the Japanese

European Journal of Neurology

Volumn 4, Issue 6, 1997, Pages 593-600

  Abe, K ^a   Itoyama, Y ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Genetic testing; Machado Joseph disease; SCA1; Spinocerebellar ataxia

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ANXIETY; ARTICLE; ATAXIA; CONTROLLED STUDY; FAMILY; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUNTINGTON CHOREA; JAPAN; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PSYCHOLOGICAL ASPECT; SOCIAL DESIRABILITY; WELLBEING;

EID: 0031468484     PISSN: 13515101     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1468-1331.1997.tb00411.x     Document Type: Article

References (26)

1. Abe K, Aoki M and Itoyama Y (1995) Differential diagnosis of early stage Huntington's disease from dentatorubralpallidoluysian atropy by DNA analysis. European Journal of Neurology, 2, 239-240.
2. Abe K, Aoki M, Ikeda M, Watanabe M, Sakuma R, Hirai S and Itoyama Y (1996) Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations. Journal of Neurological Science, 136, 108-116.
3. Aoki M, Ogasawara M, Matsubara Y, Narisawa K, Nakamura S, Itoyama Y and Abe K (1993) Mild ALS in Japan associated with novel SOD mutation. Nature Genetics, 5, 323-324.
4. Aoki M, Ogasawara M, Matsubara Y, Narisawa K, Nakamura S, Itoyama Y and Abe K (1994) Familial ALS in Japan associated with H46R mutation in Cu, Zn SOD gene. Journal of Neurological Science, 126, 77-83.
5. Aoki M, Abe K, Houi K, Ogasawara M, Matsubara Y, Kobayashi T, Mochio S, Narisawa K and Itoyama Y (1995) Variance of age at onset in a Japanese family with ALS associated with a novel Cu/Zn SOD mutation. Annals of Neurology, 37, 676-679.
6. Crowne DP (1960) A new scale of social desirability independent of psychopathology. Journal of Consulting Psychology, 24, 349-354.
7. Deng H-X, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung WY, Getzoff ED, Hu P, Herzfeldt B, Roos RP, Warner C, Deng G, Soriano E, Smyth C, Parge HE, Ahmed A, Roses AD, Hallewell RA, Pericak-Vance MA and Siddique T (1993) Amyotrophic lateral sclerosis and structural defects in Cu/Zn superoxide dismutase. Science, 261, 1047-1051.
8. Goldberg YP, Andrew SE, Clarke LA and Hayden MR (1993) A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease. Human Molecular Genetics, 2, 635-636.
9. Hersh S, Jones R, Koroshetz W and Quaid K (1994) The neurogenetics genie: Testing for the Huntington's disease mutation. Neurology, 44, 1369-1373.
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. Ikeda M, Abe K, Aoki M, Ogasawara M, Kameya T, Watanabe M, Shoji M, Hirai S and Itoyama Y (1995a) A novel point mutation in the Cu/Zn SOD gene in a patient with familial ALS. Human Molecular Genetics, 4, 491-492.
12. Ikeda M, Abe K, Aoki M, Sahara M, Watanabe M, Shoji M, St. George-Hyslop PH, Hirai S and Itoyama Y (1995b) Variable clinical symptoms in familial ALS with a novel point mutation in the Cu/Zn SOD gene. Neurology, 45, 2038-2042.
13. International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea (1994) Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology, 44, 1533-1536.
14. Kameya T, Abe K, Aoki M, Sahara M, Tobita M, Konno H and Itoyama Y (1995) Analysis of spinocerebellar ataxia type 1-related CAG trinucleotide expansion in Japan. Neurology, 45, 1587-1594.
15. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S and Kakizuka A (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genetics, 8, 221-228.
16. Kessler S, Field T, Worth L and Mosbarger H (1987) Attitudes of persons at risk for Huntington's disease toward predictive testing. American Journal of Medicine and Genetics, 26, 259-270.
17. Markel DS, Young, AB, Penney JB (1987) At-risk persons' attitudes toward presymptomatic and prenatal testing of Huntington's disease in Michigan. American Journal of Medicine and Genetics, 26, 295-305.
18. Mastromauro C, Myers RH and Berkman B (1987) Attitudes toward presymptomatic testing in Huntington's disease. American Journal of Medicine and Genetics, 26, 271-282.
19. Mizuguchi K (1991) State-trait anxiety inventory. In: The Japanese version of STAI testing (Eds K Mizuguchi, J Shimonaka and H Nakasato). Tokyo, Sankyobo. pp 10-12.
20. Nance MA, Sevenich EA and Schut LJ (1994) Knowledge of genetics and attitudes toward genetic testing in two hereditary ataxia (SCA1) kindreds. American Journal of Medicine and Genetics, 54, 242-248.
21. Orr HT, Chung M-y, Banfi S, Kwiatkowski Jr. TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LPW and Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genetics, 4, 221-226.
22. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, Rahmani Z, Krizus A, McKenna-Yasek D, Cayabyab A, Gaston SM, Berger R, Tanzi RE, Halperin JJ, Herzfeldt B, Van den Bergh R, Hung WY, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericak-Vance MA, Haines J, Rouleau GA, Gusella JS, Horvitz HR and Brown Jr RH (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature, 363, 59-62.
23. Spielberger CD, Gorsuch RL and Lushene RE (1970) STAI manual. Palo Alto, CA, Consulting Psychologist Press, pp. 23-49.
24. The Research Committee of CNS Degenerative Disease (1994) Guideline of the diagnosis for HD. In: Annual Report of The Research Committee of CNS Degenerative Disease of the Ministry of Health and Welfare of Japan (Ed. N Yanagisawa). Tokyo, The Ministry of Health and Welfare. pp 11-12.
25. Watanabe M, Abe K, Aoki M, Kameya T, Shoji M, Ikeda M, Ikeda Y, lizuka T, Hirai S and Itoyama Y (1996) Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease. Journal of Neurology Science, 136, 101-107.
26. Wiggins S, Whyte P, Huggins M, Adam S, Theilmann J, Bloch M, Sheps SB, Schechter MT and Hayden MR (1992) The psychological consequences of predictive testing for Huntington's disease. New England Journal of Medicine, 327, 1401-1405.