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) …

Objective To understand contemporary genetic counseling and testing practices for late-
onset neurodegenerative diseases (LONDs), and identify whether practices address the …

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 …

Background Low uptake of presymptomatic testing and medically assisted reproduction in
families impacted by neurogenetic diseases prompted us to investigate how reproductive …

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 …

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 …

Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder
and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic …

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 …

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 …

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 …