5 documents found, page 1 of 1
Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological ...
Paneque, Milena; Félix, Joana; Mendes, Álvaro; Lemos, Carolina; Lêdo, Susana; Silva, João; Sequeiros, JorgeIntroduction: 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 hereditary ataxias, to Huntington’s disease and to familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin gene. The aim of th...
Long-term predictors for psychological outcome of pre-symptomatic testing for l...
Lêdo, Susana; Ramires, Ana; Leite, Ângela; Dinis, Maria Alzira Pimenta; Sequeiros, JorgeThis longitudinal study aimed at determining predicting variables for middle and long-term psychological disturbance due pre-symptomatic testing (PST) for two late-onset neurological diseases, Huntington disease (HD) and TTR (transthyretin protein) familial amyloid polyneuropathy (FAP) Val30Met (now classified as Val50Met). 196 clinical records of persons who performed PST at least three years ago and answered ...
Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term p...
Lêdo, Susana; Leite, Ângela; Souto, Teresa; Dinis, Maria Alzira Pimenta; Sequeiros, JorgeBackground. Over the past 20 years, studies have revealed that the communication of a pre-symptomatic test (PST) result for autosomal dominant late-onset diseases, such as Huntington's disease (HD), doesn’t cause psychological disturbance. This cross-sectional study investigated the middle- (4 years) to long-term (7 and 10 years) psychological impact in individuals who agreed to perform the pre-symptomatic test...
Depression as the Middle- and Long-Term Impact for Pre-Symptomatic Testing of L...
Lêdo, Susana; Leite, Angela; Souto, Teresa; Dinis, Maria Alzira Pimenta; Sequeiros, JorgeThis 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 disease (MJD) and familial amyloidotic polyneuropathy (FAP) TTR V30M. It included 203 subjects: 170 (83.7%) underwent the PST for FAP, 29 (14.3%) for HD and 4 (2%) f...
Mid- and long-term anxiety levels associated with presymptomatic testing of Hun...
Lêdo, Susana; Leite, Ângela; Souto, Teresa; Dinis, Maria Alzira Pimenta; Sequeiros, JorgeOBJECTIVE: 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 polyneuropathy (FAP) TTR V30M - in a Portuguese sample. METHODS: This cross-sectional study included 203 participants: 170 (83.7%) underwent pre-symptomatic testing for ...