Perspectives towards predictive testing in Huntington disease
نویسندگان
چکیده
منابع مشابه
Perspectives towards predictive testing in Huntington disease.
OBJECTIVE Genetic counseling for individuals undergoing presymptomatic testing is lacking in India although testing is easily available. This has an impact on family members of Huntington's disease (HD), an autosomal dominant disease, wherein the age at onset of symptoms varies. AIM We examine if attitudes differ towards presymptomatic testing for HD amongst HD family members, physicians and ...
متن کاملHuntington ' s disease : who decides ? Selection for presymptomatic testing for
I was interested to read the report of Goodship et al (J Med Genet 1995;32:746-8) of monozygotic (MZ) twins with a 22ql deletion who were discordant for cardiac defects. I have recently met a similar family where all the affected members have had a 22ql deletion detected by FISH. Twin 1 has a typical facial appearance of the velocardiofacial syndrome (figure) with nasal speech but no cardiac de...
متن کاملPredictive testing and Alzheimer disease.
Authors’ Disclosures or Potential Conflicts of Interest: Upon manuscript submission, all authors completed the author disclosure form. Disclosures and/or potential conflicts of interest: Employment or Leadership: None declared. Consultant or Advisory Role: G.S. Baird, Beckman Coulter. Stock Ownership: None declared. Honoraria: None declared. Research Funding: None declared. Expert Testimony: No...
متن کاملOptimal Expectations and Limited Medical Testing: Evidence from Huntington Disease
We use novel data to study genetic testing among individuals at risk for Huntington disease (HD), a hereditary disease with limited life expectancy. Although genetic testing is perfectly predictive and carries little economic cost, pre-symptomatic testing is rare. Testing rates increase with increases in ex ante risk of having HD. Untested individuals express optimistic beliefs about their heal...
متن کاملMilestones in huntington disease.
There have been extraordinary advances in our knowledge of the underlying gene, the protein it encodes, various models of disease, and potential targets for effective therapies for Huntington disease. Huntington disease research has increased exponentially in the past 25 years, and we now understand many of the molecular mechanisms underlying the disease. Still, more work needs to be done befor...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neurology India
سال: 2006
ISSN: 0028-3886
DOI: 10.4103/0028-3886.28105