Huntington Disease课件.ppt

Huntington DiseaseAn overview Huntington Disease (HD) This presentation includes: Clinical classification and features. Structure and molecular basis of the HD gene. Clinical photographs showing involuntary movements in HD, and brain tissue of normal and affected patients. Pedigree of an HD family. Probability of inheriting the HD gene change. Advantages and disadvantages of predictive testing for HD. Huntington Disease (HD) Clinical Classification Movement/Cognitive/Psychiatric disorder Mean onset age 35-55 years. Prevalence Incidence 1 in 10,000. Genetic Testing Diagnostic Presymptomatic – counselling protocol. Huntington Disease (HD) Physical features: - involuntary movements - weight loss - abnormal gait - speech swallowing difficulties. Psychiatric Manifestations: - personality changes - depression - aggression - early onset dementia. Fig. 3.7 ?Scion Publishing Ltd Fig. 1.7 ?Scion Publishing Ltd Advantages of predictive testing for Huntington disease Uncertainty of gene status removed. If negative: concerns about self and offspring reduced. If positive: make plans for the future arrange surveillance/treatment if any inform children/decide whether to have children. Disadvantages of predictive testing for Huntington disease If positive: removes hope introduces uncertainty (if and when) known risk to offspring impact on self/partner/family/friends potential problems with insurance/mortgage. If negative: expectations of a ‘good’ result ‘survivor’ guilt. ? 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health www.geneticseducation.nhs.uk This PowerPoint file contains a number of slides that may be useful for teaching of genetics concepts. You may use these slides and their contents for non-commercial educational purposes. Structure of the Huntington disease gene Short vertical bars represent exons. Huntington disease - a triplet repeat disease CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG CAG …... CAG 11-3