Editor who approved publication: This review focuses on clinical diagnosis and both pharmacological and nonpharmacological therapeutic options in early stages of the autosomal dominant inherited neurodegenerative Huntington's disease HD. The available literature has been reviewed for motor, cognitive, and psychiatric alterations, which are the three major symptom domains of this devastating progressive disease. From a clinical point of view, one has to be aware that the HD phenotype can vary highly across individuals and during the course of the disease.
Predictive Testing Since the marker gene for HD was discovered in it has been possible for an "at risk" person 18 years or over to have a predictive test. Deciding whether to have the predictive test is a very personal choice.
It needs to be considered carefully because the implications vary for each person. The purpose of prenatal testing is to screen the foetus in order to avoid passing on the HD gene to the next generation. If the foetus is found to have a high risk of carrying the HD gene termination of the pregnancy can be considered by the parents.
Pre-implantation Genetic Diagnosis Pre-implantation genetic diagnosis is new form of prenatal testing that utilises advanced reproductive technology. It avoids the need for termination of a pregnancy where the foetus has inherited the HD gene. The embryos are then tested to see if they have the defective gene.
Only embryos which do not have the defective gene are then implanted in the female partner who it is hoped will become pregnant.
Originally written by Dennis H. The current edition was published in Is There A Test For Huntington's Disease (HD)?
Predictive Testing Since the marker gene for HD was discovered in it has been possible for an "at risk" person 18 years or over to have a predictive test. However, they have not responded to predictive testing in the negative manner that was feared when programs of predictive testing for Huntington's disease .
Huntington's disease was the first disease for which predictive testing was offered. People over 18 years old who have a family member affected with Huntington's disease but do not yet have symptoms of the disease are eligible for testing.
Studies, in addition to Richards and Williams , that found few negative effects of predictive testing on couple relationships: Codori AM, et al.
Psychological costs and benefits of predictive testing for Huntington’s disease. Am J Med Genet one area will affect the other areas.
For example, changes to cognition will have an effect on behavior. Common symptoms of HD are uncontrollable movements, abnormal balance when walking, slurred speech, difficulty swallowing, thinking difficulties, dysregulation of emotions and personality changes.
This is a simplified version of the protocol for predictive testing as used at the Alzheimer Disease Research Center at Columbia University, New York.
It is based on the protocol for Huntington disease developed at the Columbia University Medical Center Huntington's Disease Center of Excellence.