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L05- HD - Trinucleotide repeat disorders Trinucleotide...

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 Trinucleotide repeat disorders
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Trinucleotide repeat disorders
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Neurodegenerative disorders caused by  trinucleotide repeat expansion-  Huntington’s Disease First described by George Huntington - 1872 Affects 1 in 10,000 people of European descent Autosomal dominant  Caused by a CAG trinucleotide repeat Patients exhibit uncontrolled movements-chorea Exaggerated facial features, depression, anxiety,  compulsive behaviors  
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Two prominent forms of the disease Adult onset: begins at age 35-50 with 15-20  year duration Juvenile onset: begins at age 15-20 with 8-10  year progression
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Inheritance of the disease
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Early history of HD Observed by Paracelsus in 16th century and  Thomas Sydenham in 17th century 1872: “Saint Vitus Dance” chorea symptoms  first characterized by George Huntington 1910-1920: Anatomical studies reveal  neuronal loss in striatum(basal ganglia)
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