Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal

Autor: Milena Paneque, Joana Félix, Álvaro Mendes, Carolina Lemos, Susana Lêdo, João Silva, Jorge Sequeiros

Publikováno v: Acta Médica Portuguesa, Vol 32, Iss 4, Pp 295-304 (2019)

Introduction: The national protocol of genetic counselling and pre-symptomatic testing for late-onset neurological diseases began in Portugal in 1995. Initially, it was accessible only to adults at-risk for Machado-Joseph disease, but was later exten

Externí odkaz: https://doaj.org/article/27cabafc131b40fa93df83c667ad951b

Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal

Autor: Jorge Sequeiros, Milena Paneque, Álvaro Mendes, João Silva, Carolina Lemos, Susana Lêdo, Joana Félix

Publikováno v: Acta Médica Portuguesa, Vol 32, Iss 4, Pp 295-304 (2019)
Acta Médica Portuguesa; v. 32, n. 4 (2019): Abril; 295-304
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

The national protocol of genetic counselling and pre-symptomatic testing for late-onset neurological diseases began in Portugal in 1995. Initially, it was accessible only to adults at-risk for Machado-Joseph disease, but was later extended to other h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e80cd17df3b0410ace0ddef53cf2220
https://actamedicaportuguesa.com/revista/index.php/amp/article/view/10526

Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington's disease, Machado-Joseph disease, and familial amyloid polyneuropathy

Autor: Maria Alzira Pimenta Dinis, Teresa Souto, Ângela Leite, Susana Lêdo, Jorge Sequeiros

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Brazilian Journal of Psychiatry v.38 n.2 2016
Brazilian Journal of Psychiatry (São Paulo. 1999. Online)
Associação Brasileira de Psiquiatria (ABP)
instacron:ABP
Brazilian Journal of Psychiatry
Revista Brasileira de Psiquiatria, Volume: 38, Issue: 2, Pages: 113-120, Published: 05 FEB 2016
Brazilian Journal of Psychiatry, Iss 0 (2016)

Objective: To study anxiety as a variable of the mid- and long-term psychological impact of pre-symptomatic testing for three autosomal dominant late-onset disorders – Huntington’s disease (HD), Machado-Joseph disease (MJD) and familial amyloid p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506837ab2fa1db05b20e746ddeb3adce

Prenatal diagnosis of Machado–Joseph disease by direct mutation analysis

Autor: Manuela Fleming, Fátima Reto, Paula Coutinho, Marylène Rousseau, Susana Lêdo, Alice Lopes, Filomena Taborda, Patrícia Maciel, Ana Maria Fortuna, José Rocha, Guy A. Rouleau, Carlos Santos Jorge, Jorge Sequeiros

Publikováno v: Prenatal Diagnosis. 18:611-617

MJD is the most frequent dominant ataxia and an incapacitating disorder. Onset is most frequently during the reproductive years, and genetic counselling is its only means of prevention. The causative mutation—an expansion of a (CAG)n on chromosome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::54f2053619992f5a343a915a4276c67b
https://doi.org/10.1002/(sici)1097-0223(199806)18:6<611::aid-pd289>3.0.co

Depression as the Middle- and Long-Term Impact for Pre-Symptomatic Testing of Late-Onset Neurodegenerative Disorders

Autor: Jorge Sequeiros, Susana Lêdo, Teresa Souto, Angela Leite, Maria Alzira Pimenta Dinis

Publikováno v: Redalyc

This cross-sectional study investigated depression as the middle- (4 years) and long-term (7 and 10 years) psychological impact of pre-symptomatic testing (PST) for 3 autosomal dominant late-onset diseases: Huntington’s disease (HD), Machado-Joseph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c83598757eff01c742a4bfe2c366e4a
http://www.redalyc.org/articulo.oa?id=513754278011