case4 - HUNTINGTON'S DISEASE Maud Delvoye Leentje De...

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HUNTINGTON’S DISEASE Maud Delvoye eentje De Puysseleyr Leentje De Puysseleyr Kristien De Puysseleyr Liesbeth Allais
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Case b A 35-year-old women is predisposed for Huntington’s disease and is concerned about the risk for this disease in her 3-year-old daughter. Therefore, she would like to have her daughter tested for the mutation. b What is Huntington’s disease? b What about testing her daughter? b How should she be advised?
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What is Huntington’s disease? ymptoms b Symptoms B Genetics B The Huntingtin Protein B Mutant Huntingtin Protein
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What is Huntington’s disease? b Rare inherited progressive neurodegenerative disorder b Autosomal Dominant b Terminal and no proven cure ariation in onset age b Variation in onset age b Average: 40 years b Below 20 years B juvenile HD b Prevalence b Western Europe: 1 person per 10.000 b Asia and Africa: 1 person per 1.000.000
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What is Huntington’s disease?: Symptoms b Movement disorders : b Chorea: random and uncontrollable movements b Dysphagia: swallowing difficulties b Speech impairment b Eye movement abnormalities b Tics b b Mental deterioration , eventually leading to dementia b Behavioral changes : b Universal, possible before motoric manifestations b Depression (40%) B increased suicide rates b Anxiety, panic attacks, psychosis, aggressive behavior, apathy, … b Psychiatric difficulties indicators of juvenile HD onset b Death 15 to 20 years after symptom onset b End-stage HD: rigid and akynetic, demented and mute b Immobility and chorea often leads to aspiration pneumonia, most common cause of death
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b Inheritance: autosomal dominant B one affected allel from either parent b CAG repeat expansion in gene coding for Huntingtin (Htt) protein b at 5’end of Huntington disease (HD) gene on chromosome 4 hain of glutamines: polyglutamine or poly Q at N rminus What is Huntington’s disease?: Genetics b Chain of glutamines: polyglutamine or poly Q at N-terminus
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b Inheritance: autosomal dominant B one affected allel from either parent b CAG repeat expansion in gene coding for Huntingtin (Htt) protein
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case4 - HUNTINGTON'S DISEASE Maud Delvoye Leentje De...

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