Ethical, social, and cultural issues related to clinical genetic testing and counseling in low-and middle-income countries: a systematic review
A Zhong, B Darren, B Loiseau, LQB He, T Chang… - Genetics in …, 2021 - nature.com
Purpose We performed a systematic review of the ethical, social, and cultural issues
associated with delivery of genetic services in low-and middle-income countries (LMICs) …
associated with delivery of genetic services in low-and middle-income countries (LMICs) …
[HTML][HTML] Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review
Objective To understand contemporary genetic counseling and testing practices for late-
onset neurodegenerative diseases (LONDs), and identify whether practices address the …
onset neurodegenerative diseases (LONDs), and identify whether practices address the …
Comprehensive study of early features in spinocerebellar ataxia 2: delineating the prodromal stage of the disease
L Velázquez-Pérez, R Rodríguez-Labrada… - The Cerebellum, 2014 - Springer
The prodromal phase of spinocerebellar ataxias (SCAs) has not been systematically
studied. Main findings come from a homogeneous SCA type 2 (SCA2) population living in …
studied. Main findings come from a homogeneous SCA type 2 (SCA2) population living in …
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities
L Pierron, ST Du Montcel, A Heinzmann… - Journal of Medical …, 2023 - jmg.bmj.com
Background Low uptake of presymptomatic testing and medically assisted reproduction in
families impacted by neurogenetic diseases prompted us to investigate how reproductive …
families impacted by neurogenetic diseases prompted us to investigate how reproductive …
Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in Portugal
Introdução: Em 1995 foi iniciado em Portugal um protocolo nacional para o aconselhamento
genético e teste pré-sintomático de doenças neurológicas de início tardio. Inicialmente, foi …
genético e teste pré-sintomático de doenças neurológicas de início tardio. Inicialmente, foi …
Neurorehabilitation improves the motor features in prodromal SCA2: a randomized, controlled trial
L Velázquez‐Pérez, JC Rodríguez‐Diaz… - Movement …, 2019 - Wiley Online Library
Background The search for early interventions is a novel approach in spinocerebellar
ataxias, but there are few studies supporting this notion. This article aimed to assess the …
ataxias, but there are few studies supporting this notion. This article aimed to assess the …
[HTML][HTML] Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal
L Schuler-Faccini, CM Osorio, F Romariz… - … and Molecular Biology, 2014 - SciELO Brasil
Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder
and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic …
and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic …
Ethical issues in neurogenetics
WR Uhlmann, JS Roberts - Handbook of clinical neurology, 2018 - Elsevier
Many neurogenetic conditions are inherited and therefore diagnosis of a patient will have
implications for the patient's relatives and can raise ethical issues. Predictive genetic testing …
implications for the patient's relatives and can raise ethical issues. Predictive genetic testing …
Genetics health professionals' views on quality of genetic counseling service provision for presymptomatic testing in late-onset neurological diseases in Portugal: core …
Quality assessment of genetic counseling practice for improving healthcare is a challenge
for genetic services worldwide; however, there is scarce literature regarding quality issues in …
for genetic services worldwide; however, there is scarce literature regarding quality issues in …
SCA2 predictive testing in Cuba: challenging concepts and protocol evolution
T Cruz-Mariño, Y Vázquez-Mojena… - Journal of community …, 2015 - Springer
Abstract Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by a
CAG repeat expansion in the ATXN2 gene. Cuba has the highest prevalence (6.57 cases/10 …
CAG repeat expansion in the ATXN2 gene. Cuba has the highest prevalence (6.57 cases/10 …