Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal)

Community Genetics

Volumn 4, Issue 1, 2001, Pages 36-42

  Lima, Manuela ^a   Kay, T ^b   Vasconcelos, J ^b   Mota Vieira, L ^b   Gonzalez, C ^b   Peixoto, A ^b   Abade, A ^c   MacLeod, P ^e   Graca R ^d   Santos, J ^b  

^a UNIVERSITY OF THE AZORES   (Portugal)

^b HOSPITAL DO DIVINO ESPÍRITO SANTO   (Portugal)

^c UNIVERSITY OF COIMBRA   (Portugal)

^d Hospital Santo Espirito de Angra do Heroesmo   (Portugal)

^e VICTORIA GENERAL HOSPITAL   (Canada)

Author keywords

Azores; Genetic counselling; Machado Joseph disease; Predictive testing; Prenatal diagnosis; Reproductive decisions

Indexed keywords

ADULT; AGED; ARTICLE; ATTITUDE; FEMALE; GENE LOCATION; GENETIC COUNSELING; HIGH RISK POPULATION; HUMAN; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; MALE; MULTIGENE FAMILY; NERVE DEGENERATION; PORTUGAL; PREDICTION; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; ATLANTIC ISLANDS; BEHAVIOR; EMPIRICAL APPROACH; FAMILY HEALTH; GENETIC DISORDER; GENETIC SCREENING; GENETICS; GENETICS AND REPRODUCTION; PSYCHOLOGICAL ASPECT; QUESTIONNAIRE; REPRODUCTION;

EMPIRICAL APPROACH; GENETICS AND REPRODUCTION;

ATTITUDE TO HEALTH; AZORES; FAMILY HEALTH; FEMALE; GENETIC COUNSELING; GENETIC DISEASES, INBORN; GENETIC SCREENING; HUMAN; INTENTION; KNOWLEDGE, ATTITUDES, PRACTICE; MACHADO-JOSEPH DISEASE; MALE; PORTUGAL; PRENATAL DIAGNOSIS; QUESTIONNAIRES; REPRODUCTION;

EID: 17844362965     PISSN: 14222795     EISSN: None     Source Type: Journal    
DOI: 10.1159/000051154     Document Type: Article

References (23)

1. Machado disease - A hereditary ataxia in Portuguese emigrants to Massachusetts
2. Nigro-spino-dentatal degeneration with nuclear opthalmoplegia: A unique and partially treatable clinicopathological entity
3. Autosomal dominant striatonigral degeneration. A clinical, pathologic and biochemical study of a new genetic disorder
4. Autosomal dominant system degeneration in Portuguese families of the Azores Islands: A new disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions
5. Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non-Azorean Portuguese family
6. Epidemiology and clinical aspects of Machado-Joseph disease
7. The gene for Machado-Joseph disease maps to human chromosome 14q
8. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
9. Prevalence, geographical distribution and genealogical investigation of Machado-Joseph disease in the islands of the Azores (Portugal)
10. Attitudes of subjects at risk and their relatives toward genetic counseling in Huntington's chorea
11. Attitudes of persons at-risk for Huntington disease toward predictive testing
12. Attitudes toward pre-symptomatic testing in Huntington disease
13. Intended use of predictive testing by those at risk for Huntington disease
14. Predictive Testing for Huntington disease: II. Demographic characteristics, life-style patterns, attitudes and psychological assessments of the first fifty-one test candidates
15. Attitudes of at-risk and affected individuals regarding pre-symptomatic testing for autosomal dominant polycystic kidney disease
16. 'The stumbling disease': A case-study of stigma among Azorean-Portuguese
17. Genetic disease through the lens of culture: Contributions from Anthropology
18. Potential impact of predictive test on the gene frequency of Huntington disease
19. Uptake of presymptomatic predictive testing for Huntington disease
20. Understanding the decision to take the predictive test for Huntington disease
21. Prediction of psychological functioning one year after the predictive test for Hunting-ton's disease and impact of the test on reproductive decision making