Future directions in research with presymptomatic individuals carrying the gene for Huntington's disease.
Presymptomatic individuals carrying the gene for Huntington's disease (HD) provide researchers with a unique opportunity of learning more about the neuropathophysiology, symptom onset, behavioural functioning, and mediating factors of this fatal disease. In this review, we attempt to demonstrate that research over the last 8 years, since the isolation of the gene, has remained at large controversial. Although we are aware of some of the factors that can influence age at onset and disease progression, we are still unable to determine exactly when an individual will develop HD symptoms, and how fast these symptoms will progress. In an era rapidly advancing with respect to therapeutic intervention that could forestall the onset and progression of HD, systematic research with improved inclusion criteria is paramount. A greater understanding of the time course of the disease would be beneficial not only in monitoring the effectiveness of future treatments, but also in determining the most appropriate time to administer them. Finally, we present various ethical considerations, as well as put forward various recommendations that could assist in better diagnosing preclinical deficits in presymptomatic individuals.
Georgiou-Karistianis
Nellie
N
Department of Psychology, Monash University, Vic, Clayton, Australia.
Smith
Eleanor
E
Bradshaw
John L
JL
Chua
Phyllis
P
Lloyd
John
J
Churchyard
Andrew
A
Chiu
Edmond
E
D017668:Age of Onset; D018450:Disease Progression; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000941:ethics / Q000639:trends; D006801:Humans; D006816:Huntington Disease / Q000235:genetics / Q000503:physiopathology*