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Psychological Follow-up of Presymptomatic Genetic Testing for Spinocerebellar Ataxia Type 2 (SCA2) in Cuba

  September, 19 2007 20:23
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Psychological Follow-up of Presymptomatic Genetic Testing for Spinocerebellar Ataxia Type 2 (SCA2) in Cuba


Milena Paneque (1, 2, 4), Carolina Lemos (3), Karell Escalona (1), Lizandra Prieto (1), Rubén Reynaldo (1), Mercedes Velázquez (1), Judith Quevedo (1), Nieves Santos (1), Luis Enrique Almaguer (1), Luis Velázquez (1), Alda Sousa (1), Manuela Fleming (2,3) and Jorge Sequeiros (2,3) Author

Affiliations:(1) Clínica para Investigación y Rehabilitación de las Ataxias Hereditarias (CIRAH), Holguín, Cuba

(2) Centro de Genética Preditiva e Preventiva (CGPP) and UnIGENe, IBMC, Porto, Portugal.

(3) ICBAS, University of Porto, Porto, Portugal.(

(4) CGPP, IBMC, University of Porto, Rua do Campo Alegre, 823, 4150-180 Porto, Portugal.Published in Journal of Genetic Counseling (Vol. 16, No. 4, pp. 469-479, August 2007).


Presymptomatic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba started five years ago. We have now investigated the psychological impact of test results on 150 individuals at 50% risk for SCA2. In a prospective study, psychological instruments were used to evaluate depression, anxiety and family functioning (1) before testing and (2) one year after disclosure of the test result. One year after, anxiety and depression levels decreased both in carriers and non-carriers, but anxiety decreased significantly more in carriers. Pathological levels of anxiety were seen mostly in members of dysfunctional families, but decreased more in them than in other consultands. Presymptomatic testing thus seems to have been especially beneficial for these testees, possibly due to a greater gain from the psychosocial support received. It would be pertinent to evaluate now the impact of other psychosocial variables and perform longer-term longitudinal studies. Author Contact:

Milena Paneque


Email: panequita@yahoo.es

(C) Journal of Genetic Counseling.


Message posted by: Tressie Dalaya

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