HD Genetic Testing

Section 9 - HD Research/Studies
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Some  articles on studies in genetic testing and other findings for Huntington's Disease including  links to places to find current articles on HD research.
 
Absence of Unidentified CAG Repeat in HD-like phenotype- in patients with Huntington's disease a 2000 study
 
CAG Repeats In Sporadic Cases -CAG Repeats in a sporadic case of HD - Nine  studies between 1992 and 2000
 
CAG Repeat Influence/Onset Clinical Features-repeat influence clinical features at onset in Huntington's disease a 1998 study.
 
Clinical markers of early disease HD - Neuropsychological measures show impairment 2 years before the develop-ment of more manifest motor disease. Findings suggest that these brief cognitive measures administered over time may capture early striatal neural loss in HD.
 
Cognitive and Psychiatric Abnormalities - Excerpt from an article, Huntington's Disease: Bridging Clinical and Basic Neurobiology", written in 1999 describing the cognitive and psychiatric abnormalitites which may appear in Huntingotn's Disease.
 
Cognitive Testing Detects Early Huntington's Disease -"Accurate and early detection of mid- and late-life diseases is becoming more and more important as therapeutic options to slow disease progression or delay disease onset are identified"
 
Genetics of HD-Mode of Inheritence - Gene characteristics,  direct gene results, pre and post-test genetic counseling.
 
Genetic Study of A Huntington's Disease Phenocopy-Keywords: Huntington's disease (HD), MECP2 gene, mutation, linkage analysis, prion disease, prion protein (PrP), Rett syndrome (RTT), X-chromosome inactivation (XCI).
 
Genetic Testing & Age/Probability Chart - Athena: table of age-specific  risks for asymptomatic (as confirmed by neurological exam) individuals at a 50% prior risk of HD.
 
Scientific article discussing the gray zone in genetic testing for Huntington's Disease where the person, themself, may not get the disease but their offspring may still get it.
 
HD CAG Repeats & Psychiatric symptoms - Eight research studies on the psychiatric  and cognitive symptoms and HD
 
High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in the UK. Research articles and discussion on Hunt-Dis/view comments
 
A Huntington's Disease Pedigree Using Direct Genetic Testing
 
 
Mapping Modifier Genes for Huntington's Disease- University of Oxford collaboration with Prof Nancy Wexler of Columbia University, performing a linkage genome scan to map loci which may modify the expression of Huntington's Disease. 22 January, 2003
 
Maternal vs Paternal In Sporadic HD -Journal of Neurology, Neurosurgery, and Psychiatry-Maternal transmission in sporadic Huntington's disease
 

To describe the consequences of the identification of the Huntington's
disease (HD) mutation on predictive and prenatal testing.

Subtle changes among presymptomatic HD - Among Huntington's disease gene carriers, subtle cognitive and motor deficits precede the onset of sufficient neurological abnormality to warrant a clinical diagnosis of Huntington's disease.
 
Michelle Fox, the Genetic Counselor with UCLA Medical Center May 13,1999 Nightline discussion with Barbara Walters and other esteemed guests
 
Other Resources
 
From NINDS:
 
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