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12 Cards in this Set

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  • Back
What extraoccular movement disoreders are associated with Huntingtons Dz?
In general slow motilty
1. Saccadic eye movt- inability of pt to look from one target to another
2. Opto-kinetic nystagmus- pts move their head to try and follow targets...cant move eyes fast enough...head movt is compensatory
What is motor impersistence? What Dz is it associated with?
A characteristic of Huntingtons chorea where patients are unable to protrude tongue and maintain protrusion...eye closure is also another way to test for motor impersistence.
Characterize the typical Huntingtons patient.
Slender build due to constant involuntary motion in late 30-40s with no sexual designation.
What is the inheritance pattern attributed to Huntingtons?
Autosomal Dominant
What are neurologic symptoms associated with Huntingtons?
Depression, OCD, concentration issues, hallucination, cognitive decline
What is the standard work-up for assesing movement disorders?
1. CBC-for atypical RBC or acanthocytosis
2. ESed Rate
3.Thyroid function study
4. Serum Ceruloplasmin/24hrurine/Slit Lamp test
What is the charactisticl neuroimaging findings are associated with Huntingtons?
1. Atrophy. loss of convexity of the striatum and bulging of the Caudate into the anterior horn of the lateral ventricle is seen.
What specific cell type is affected by Huntingtons?
Gabaergic medium spiny projection neurons in the straitum (Caudate and Putamen) these project to the medial Globus pallidus and the Nigra Reticulata
Discuss the sequntial progression and degeneration of pathways in Huntingtons Dz.
1. Neurons from the indirect pathway (striatum to Lateral Globus Pallidus) are destroyed first leading to an increase in Thalamo-Cortical activity leading to hyperkinetic movt.
2. Destruction of projection neurons in the direct pathway (straitum-nigra Reticulata) leading to diminishment of Thalamo-Cortical activity and inducing Parkinsonian rigidity, hypokinesia
How is Huntingtons treated?
Early treatment is directed towards supression of involunvtary movt with dopamine antagonists such as Haloperidol. After destruction of the direct pathway (Striato-nigral) patients are treated with Dopa agonists such as levodopa to improve mobility.
Discuss the pathophysiology of Huntingtons Dz.
>37 CAG trinucleotide repeat on the short are of chromosome 4 with autosomal dominant inheritance and anticipation (generational increase in repeats coorelated with generational earlir onset)
What is the usual cause of death in Huntingtons Patients?
Infection (pneumonia, decubitus ullcer)