45 documents found, page 1 of 5
Living with Transthyretin-Related Familial Amyloid Polyneuropathy—TTR-FAP: Gene...
Oliveira, Carla Roma; Sousa, Liliana; Sá Couto, Pedro; Sequeiros, Jorge; Mendes, ÁlvaroGenerativity is a main adulthood developmental task, centred on the concern to contribute for the wellbeing of younger generations, and has been associated with improved health and wellbeing. Generativity, nevertheless, has not been explored in persons with rare late-onset neurological diseases, such as transthyretin-related familial amyloid polyneuropathy (TTR-FAP). This study aims at examining generativity in...
Rare disease associations in Portugal: an importante source of psychosocial sup...
Costa, Catarina; Alonso, Isabel; Sequeiros, Jorge; Paneque, MilenaThis study aimed to characterize the development of Portuguese patient associations, mostly on rare diseases, as a relevant source of psychosocial support for patients and their families. Participants represented 23 patients’ associations or delegations, with which interviews were carried out. Recordings were transcribed and analyzed using the thematic analysis method. Three conceptual categories emerged in the...
Molecular characterization of Portuguese patients with hereditary cerebellar at...
Santos, Mariana; Damásio, Joana; Carmona, Susana; Neto, João Luís; Dehghani, Nadia; Correia Guedes, Leonor; Barbot, Clara; Barros, José; Brás, José© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).; Hereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, a...
Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case r...
Damásio, Joana; Sardoeira, Ana; Araújo, Maria; Carvalho, Isabel; Sequeiros, Jorge; Barros, JoséBackground: Friedreich ataxia is the most frequent hereditary ataxia worldwide. Subclinical visual and auditory involvement has been recognized in these patients, with co-occurrence of severe blindness and deafness being rare. Case report: We describe a patient, homozygous for a 873 GAA expansion in the FXN gene, whose first symptoms appeared by the age of 8. At 22 years-old he developed sensorineural deafness,...
Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular B...
Santos, Mariana; Damásio, Joana; Kun-Rodrigues, Celia; Barbot, Clara; Sequeiros, Jorge; Brás, José; Alonso, Isabel; Guerreiro, RitaHomozygous variants in MAG, encoding myelin-associated glycoprotein (MAG), have been associated with complicated forms of hereditary spastic paraplegia (HSP). MAG is a glycoprotein member of the immunoglobulin superfamily, expressed by myelination cells. In this study, we identified a novel homozygous missense variant in MAG (c.124T>C; p.Cys42Arg) in a Portuguese family with early-onset autosomal recessive cere...
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...
Proposal of a Portuguese Tool for Quality Assessment of Genetic Counselling: a ...
Paneque, Milena; Costa, Catarina; Lemos, Carolina; Alves-Ferreira, Miguel; Sequeiros, Jorge; Lemos, Marina SerraIntroduction: The lack of tools for quality assessment of genetic counselling is recognized in national and international studies. The correlation of quality of healthcare practice with greater satisfaction of patients and affected families is also well established. The present study describes the development and validation of the first Portuguese scale for quality assessment of genetic counselling practice. It...
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...
Risk perception in subjects at-risk for Familial Amyloidotic Polyneuropathy: Pe...
Leite, Ângela; Dinis, Maria Alzira Pimenta; Sequeiros, Jorge; Paúl, ConstançaThe aims of this study are to know if subjects at-risk were aware of their 50% risk for Familial Amyloidotic Polyneuropathy (FAP); to know the value of the subjective risk; to understand the association between sociodemographic characteristics and risk perception, and between the risk status and the subjective perception of risk. 174 subjects 50% atrisk for FAP were tested. 52.9% subjects at-risk were aware of ...