Prion disease is a rare, fatal, and often rapidly progressive neurodegenerative disease. Ten
to fifteen percent of cases are caused by autosomal dominant gain-of-function variants in the …

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

This study is the first to explore the psychosocial experience of young Portuguese adults at
genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR …

Until recently, systemic amyloidoses were regarded as ineluctably disabling and life‐
threatening diseases. However, this field has witnessed major advances in the last decade …

The availability and cost of next‐generation sequencing (NSG) now allow testing large
numbers of genes simultaneously. However, the gold standard for predictive testing has …

Huntington disease (HD) is a rare progressive neurological disease, with no cure, inherited
in an autosomal dominant fashion, significantly impacting family relations, health and well …

Background: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a
clinically heterogeneous and progressive condition. Evaluation of its progression will …

This paper reports accounts from people at-risk for, or affected by, Machado-Joseph
disease, and their family members, about their decisions not to seek pre-symptomatic …

Genetic diseases are a family matter, requiring adjustment and management from the family
system, particularly when the diagnosis is recent. Literature has evidenced the importance of …

Las Ataxias Hereditarias (AH) abarcan un grupo heterogéneo de entidades genéticas que
clínicamente comparten marcha con amplia base de sustentación, incoordinación motriz …