Presymptomatic ALS genetic counseling and testing

Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal

Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST) can be used to identify persons at risk of developing the disease. Gen...

Presymptomatic Imaging in ALS

The failure of many therapeutic trials in ALS may be the consequence of a diagnostic delay, where the affected neuronal structures can no longer be rescued, and the absence of pre-clinical biomarkes prevents any possibility for primary prevention of this disease. Neuroimaging studies of presymptomatic individuals carrying monogenetic abnormalities such as mutations in superoxide dismutase 1, TA...

Genetic testing in ALS

OBJECTIVE To determine the degree of consensus among clinicians on the clinical use of genetic testing in amyotrophic lateral sclerosis (ALS) and the factors that determine decision-making. METHODS ALS researchers worldwide were invited to participate in a detailed online survey to determine their attitudes and practices relating to genetic testing. RESULTS Responses from 167 clinicians fro...

Ethical and Genetic Aspects regarding Presymptomatic Testing for Neurodegenerative Diseases.

Neurodegenerative diseases, such as Alzheimer's dementia, Huntington's chorea, Parkinson's disease or spinocerebellar ataxia, manifests into adulthood with an insidious onset, slowly of progressive symptoms. All of these diseases are characterized by presimptomatic stages that preceded with many years of clinical debut. In Parkinson's disease, more than half of the dopaminergic neurons of the b...

A roadmap for genetic testing in ALS.