• Publications
  • Influence
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
TLDR
Sib pair and parent–child analysis revealed that the CAG repeat demonstrates only mild instability, and significant associations were also found between repeat length and age of death and onset of other clinical features. Expand
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
Huntington disease is associated with an unstable and expanded (CAG) trinucleotide repeat. We have analysed the CAG expansion in different tissues from 12 affected individuals. All tissues examinedExpand
Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects
TLDR
The existence of an intermediate allele in parental alleles of 30–38 CAG repeats in the HD gene which is greater than usually seen in the general population but below the range seen in patients with HD is shown. Expand
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.
TLDR
It is demonstrated that sex of the transmitting parent is the major determinant for CAG intergenerational changes in the HD gene, and similar paternal sex effects are seen in the evolution of new mutations for HD from intermediate alleles and for large expansions on affected chromosomes. Expand
The Psychological Consequences of Predictive Testing for Huntington’s Disease
TLDR
A large number of participants in the Canadian program of genetic testing to predict the risk of Huntington's disease were followed prospectively in three groups according to their test results: the increased-risk group, the decreased- risk group, and the group with no change in risk. Expand
The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size.
TLDR
A large cohort of affected and asymptomatic at-risk persons with CAG expansion is analyzed, finding that only a proportion of those with a CAG repeat length of 36-41 showed signs or symptoms of HD within a normal life span. Expand
A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats.
TLDR
CAG trinucleotide expansion is the molecular basis of Huntington's disease worldwide and is a highly sensitive and specific marker for inheritance of the disease mutation. Expand
DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence.
TLDR
The findings suggest that, in addition to European emigration, new mutations make a contribution to geographical variation of prevalence rates and is consistent with a multistep model of HD developing from normal chromosomes with higher CAG repeat lengths. Expand
Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.
TLDR
It is demonstrated that the sex of transmitting parent is the major influence on trinucleotide expansion and clinical features in juvenile Huntington disease. Expand
Proceed with care: direct predictive testing for Huntington disease.
TLDR
Protocols for direct predictive testing for adult and prenatal assessment are described, on the basis of the experience of the Canadian Collaborative Study on Predictive Testing (CCSPT), to provide approaches to providing predictive testing in the patient's own community. Expand
...
1
2
3
4
5
...