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Huntington’s Disease

Huntington’s Disease. Pathology presentations Caroline maness 2/1/2013. Introduction - Huntington’s Disease . Huntington's disease is a disorder passed down through families in which nerve cells in certain parts of the brain deteriorate. There are two forms of Huntington's disease.

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Huntington’s Disease

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  1. Huntington’s Disease Pathology presentations Caroline maness 2/1/2013

  2. Introduction - Huntington’s Disease • Huntington's disease is a disorder passed down through families in which nerve cells in certain parts of the brain deteriorate. • There are two forms of Huntington's disease. • (Most common) Adult-onset Huntington's disease. Persons with this form usually develop symptoms in their mid 30s and 40s. • An early-onset form of Huntington's disease accounts for a small number of cases and begins in childhood or adolescence. • Death usually occurs within 15-20 years of a diagnosis

  3. Symptoms of Huntington’s Behavioral symptoms: hallucinations, moodiness, paranoia Abnormal movements: head turning to shift eye position, uncontrolled movements Dementia: loss of memory, loss of judgement, personality changes, speech changes

  4. Cause Huntington’s is caused by a genetic defect on chromosome 4 The gene is autosomal dominant. You only need one copy of the gene to have the disease Repeats of CAG occur more times than they should (normal: 10-28 repeats, Huntington’s: 36-120 repeats)

  5. Cause continued

  6. Mechanism The Huntington gene (HTT) encodes for the Huntingtin protein (Htt) After a certain number of CAG repeats, the gene produces a mutant Huntingtin protein (mHtt) mHtt molecules misfolds into clumps Clumps of mHtt block the flow of neurotransmitter within neurons

  7. Mechanism

  8. Tests of Huntingtons Neurological exam: dementia, abnormal movements, hesitation in speech CT scan to assess loss of brain tissue Genetic test for presence of mutant HTT gene

  9. Treatments for Huntington’s There is no cure for Huntington’s, only treatments to reduce symptoms Dopamine blockers may help reduce abnormal behaviors and movements. Co-enzyme Q10 may also help slow down the course of the disease, but it is not conclusive. As the disease progresses, the person will need assistance and supervision, and may eventually need 24-hour care.

  10. Expectations (prognosis) Huntington's disease causes disability that gets worse over time. Persons with this disease usually die within 15 to 20 years. Cause of death is often infection, also suicide Persons with few repeats may have mild abnormal movements later in life and slow disease progression, while those with a large number of repeats may be severely affected at a young age.

  11. References Huntington. In (2012). K. Sheth & D. Dugdale (Eds.), A.D.A.M. Medical Encyclopedia.. Retrieved from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001775/

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