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A Comprehensive Comparison Powerpoint
A Comprehensive Comparison Powerpoint
A Comprehensive Comparison Powerpoint
A Comprehensive Comparison Powerpoint
A Comprehensive Comparison Powerpoint
A Comprehensive Comparison Powerpoint
A Comprehensive Comparison Powerpoint
A Comprehensive Comparison Powerpoint
A Comprehensive Comparison Powerpoint
A Comprehensive Comparison Powerpoint
A Comprehensive Comparison Powerpoint
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A Comprehensive Comparison Powerpoint

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  • 1. Jennifer K. Ocasio<br />Biol. 3095-142<br />A Comprehensive Comparison of the Motor and Behavioral Symptoms of Adult-Onset and Juvenile Huntington’s Disease<br />
  • 2. George Huntington<br />Greek word choreia<br />Excessive repetition of CAG on chromosome 4<br />Normal: less than 25<br />Unaffected Huntington’s: 25-35<br />Adult-Onset: 36-40<br />Juvenile: more than 40<br />Introduction<br />
  • 3. CAG repetitions in chromosome 4<br />Produces mutant huntingtin<br />Neurodegeneration of the striatum<br />Characteristic involuntary movements<br />Chorea<br />Behavioral abnormalities<br />Common Aspects<br />
  • 4. On the left is a section of an HD brain demonstrating the damage to the striatum. On the right is the brain of a normal person<br />Neurodegeneration of the striatum caused by Huntington’s disease. There are few neurons left and reactive gliosis (neuroinflammation)<br />Unaffected brain with neurons and no inflammation <br />
  • 5. CAG repetitions<br />Graeme et al. yeast artificial chromosome mice<br />Electrophysiological abnormalities<br />Cytoplasmic toxicity<br />Behavioral abnormalities<br />Rapid circling<br />Confusion<br />Prevalent Differences<br />
  • 6. Laforet et al. transgenic mice<br />Gait<br />Hyperactivity levels<br />Balance<br />Clasping<br />Disorientation<br />Prevalent Differences<br />
  • 7. Concentration of mutant huntingtin<br />Autism<br />Learning problems<br />Spasticity<br />Psychological problems<br />Prevalent Differences<br />
  • 8. 4 to 8 per 100,000 people have HD<br />5 to 10% are Juvenile cases<br />Dominant hereditary disorder<br />Conclusion<br />
  • 9. Aronin N, Chase K, Young C, Sapp E, Schwarz C, Matta N, Kornreich R, Lanwehrmeyer B, Bird E, Beal M, Vonsattel J, Smith T, Carraway R, Boyce F, Young A, Penney J and DiFiglia M. 1995. CAG expansion affects the expression of mutant huntingtin in the Huntington&amp;apos;s disease brain. Neur. 15(5):1193-1201.<br />Carter R, Lione L, Humby T, Mangiarini L, Mahal A, Bates G, Dunnett S and Morton J. 1999. Characterization of Progressive Motor Deficits in Mice Transgenic for the Human Huntington’s Disease Mutation. J Neurosci. 19(8):3248–3257<br />Graeme J, Agopyan N, Gutekunst C, Leavitt B, LePiane F, Singaraja R, Smith D, Bissada N, McCutcheon K, Nasir J, Jamot L, Li X, Stevens M, Rosemond E, Roder J, Phillips A, Rubin E, Hersch S, and Hayden M. 1999. A YAC Mouse Model for Huntington&amp;apos;s Disease with Full-Length Mutant Huntingtin, Cytoplasmic Toxicity, and Selective StriatalNeurodegeneration. Neur. 23(1):181-192.<br />References<br />
  • 10. Harper PS, Lim C and Craufurt D. 2000. Ten years of presymptomatic testing for Huntington&amp;apos;s disease: the experience of the UK Huntington&amp;apos;s Disease Prediction Consortium. J Med Genet. 37(8):567-571.<br />Huntington G. 2003. On Chorea. J NeuropsychClinNeurosci. 15:109-112.<br />Laforet G, Sapp E, Chase K, McIntyre C, Boyce F, Campbell M, Cadigan B, Warzecki L, Tagle D, Hemachandra P, Cepeda C, Calvert C, Jokel E, Klapstein G, Ariano M, Levine M, DiFiglia M, and Aronin N. 2001. Changes in Cortical and Striatal Neurons Predict Behavioral and Electrophysiological Abnormalities in a Transgenic Murine Model of Huntington’s Disease. J Neurosci, 21(23):9112–9123.<br />Montoya A, Price BH, Menear M and Lepage M. 2006. Brain imaging and cognitive dysfunctions in Huntington&amp;apos;s disease. J Psych Neurosci. 31(1):21-9.<br />References<br />
  • 11. National Institute of Neurological Disorders and Stroke. 2009. Huntington&amp;apos;s Disease: Hope Through Research. &amp;lt;http://www.ninds.nih.gov/disorders/huntington/detail_ huntington.htm#135523137&amp;gt; Accessed 2009 Sep 13.<br />National Research Roster for Huntington Disease Patients &amp; Families. 2004. The Brain &amp; HD. &amp;lt;http://hdroster.iu.edu/AboutHD/brainAndHD.asp&amp;gt; Accessed 2009 Dec 4.<br />Revilla FJ and Grutzendler J. 2008. Huntington Disease. Huntington Disease: eMedicine Neurology. &amp;lt;http://emedicine.medscape.com/article/1150165-overview&amp;gt; Accessed 2009 Sep 13. <br />Squitieri F, Frati L, Ciarmiello A, Lastoria S and Quarrell O. 2006. Juvenile Huntington&amp;apos;s disease: Does a dosage-effect pathogenic mechanism differ from the classical adult disease? Mech Age Devel. 127(2):208-212<br />References<br />

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