Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.

Importance: Identifying measures that are associated with the cytosine-adenine-guanine (CAG) expansion in individuals before diagnosis of Huntington disease (HD) has implications for designing clinical trials.

Objective: To identify the earliest features associated with the motor diagnosis of HD in the Prospective Huntington at Risk Observational Study (PHAROS).

Design, Setting, And Participants: A prospective, multicenter, longitudinal cohort study was conducted at 43 US and Canadian Huntington Study Group research sites from July 9, 1999, through December 17, 2009.

Fear of health insurance loss among individuals at risk for Huntington disease.

Genetic testing in Huntington disease, an inherited ultimately fatal neurodegenerative disorder, is infrequent despite wide availability. Factors influencing the decision to pursue testing are largely unknown. We conducted a prospective longitudinal observational study of 1,001 individuals in North America who were at risk for Huntington disease who had not pursued genetic testing prior to enrollment.

A study of chorea after tetrabenazine withdrawal in patients with Huntington disease.

Objective: To assess tetrabenazine (TBZ) efficacy by evaluating the change in Huntington disease-associated chorea resulting from TBZ treatment withdrawal.

Methods: Thirty patients treated in the long term were randomized to 1 of 3 groups assigned to withdraw from TBZ in a double-blind, staggered fashion during a 5-day period.

Results: The chorea scores of subjects withdrawn from TBZ treatment increased by 5.

Pramipexole vs levodopa as initial treatment for Parkinson disease: a 4-year randomized controlled trial.

Background: The best way to initiate dopaminergic therapy for early Parkinson disease remains unclear.

Objective: To compare initial treatment with pramipexole vs levodopa in early Parkinson disease, followed by levodopa supplementation, with respect to the development of dopaminergic motor complications, other adverse events, and functional and quality-of-life outcomes.

Design: Multicenter, parallel-group, double-blind, randomized controlled trial.

Preempting genetic discrimination and assaults on privacy: report of a symposium.

At a symposium in June, 2002, biomedical researchers, clinicians, legal experts, policymakers, and representatives of the insurance industry and the advocacy community gathered to address issues of genetic privacy and discrimination; and to identify research, legal, and policy gaps needing to be filled. They concluded that over the next decade, as more genetic information becomes available and the public becomes more aware of individual risks, concerns about privacy and discrimination will become increasingly important. Documented cases of genetic discrimination are rare and largely anecdotal, yet individuals with genetic conditions harbor significant fears about discrimination.