The presymptomatic phase of Huntington disease.

نویسندگان

  • A Durr
  • M Gargiulo
  • J Feingold
چکیده

Huntington disease is a neurodegenerative disorder transmitted as an autosomal dominant trait. It is the first neurological disease for which presymptomatic testing has been available for 20years in France. Follow-up of mutation carriers provided a better understanding of the presymptomatic phase of the disease and will change medical practice. Studying this phase led to the identification of clinical, imaging and plasma markers prior to motor onset, which will allow finding the optimal window for preventive treatment and follow-up of its efficacy.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

At-risk persons' attitudes toward presymptomatic and prenatal testing of Huntington disease in Michigan.

One hundred fifty-five individuals at 50% risk of inheriting Huntington disease (HD) were given a questionnaire surveying their sociodemographic characteristics, experience with HD, and attitudes toward presymptomatic and prenatal testing in HD. About two-thirds (63.2%) of the persons indicated they would take a presymptomatic test even if no specific treatment was available. Although one-half ...

متن کامل

Non-disclosing preimplantation genetic diagnosis for Huntington disease.

OBJECTIVES Individuals at risk for Huntington disease face difficult decisions regarding their reproductive options. Most do not wish to pass on the gene for Huntington disease to their children, but may not be prepared themselves to undergo presymptomatic testing and learn their genetic status. For these reasons, many at-risk individuals with a family history of HD would choose a method of gen...

متن کامل

Diffusion tensor imaging of brain white matter in Huntington gene mutation individuals.

Objective To evaluate the role of the involvement of white matter tracts in huntingtin gene mutation patients as a potential biomarker of the progression of the disease. Methods We evaluated 34 participants (11 symptomatic huntingtin gene mutation, 12 presymptomatic huntingtin gene mutation, and 11 controls). We performed brain magnetic resonance imaging to assess white matter integrity using...

متن کامل

National symposium on problems of presymptomatic testing for Huntington's disease, Cardiff.

Presymptomatic testing for Huntington's disease has given rise to several ethical problems relating to such issues as confidentiality, the privacy of the individual, the testing of minors and informed consent in connection with blood sample donation. A multidisciplinary conference of staff from genetic centres involved with presymptomatic testing was organised in Cardiff to discuss these and ot...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:
  • Revue neurologique

دوره 168 11  شماره 

صفحات  -

تاریخ انتشار 2012