Questions and Answers
What potential side effects might patients experience from certain treatments mentioned?
Which class of drugs may help manage behavioral symptoms in dementia patients?
In Huntington disease, what genetic marker is associated with the condition?
What is a likely progression in symptoms for a patient with Huntington disease experiencing involuntary movements?
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What does the loss of striatal inhibitory output in Huntington disease primarily affect?
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What is the nature of Huntington disease in terms of inheritance?
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What genetic mechanism primarily causes Huntington's Disease?
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Which symptom is typically one of the first signs of Huntington's Disease?
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What is the typical life expectancy after the onset of Huntington's Disease symptoms?
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What imaging finding is characteristic of Huntington's Disease?
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What is the primary drug used to manage chorea in Huntington's Disease?
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How does Huntington's Disease affect the basal ganglia?
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Which of the following best describes the anticipation phenomenon in Huntington's Disease?
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What psychological impact is often observed in individuals with Huntington's Disease?
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Study Notes
Huntington's Disease Overview
- Inherited as an autosomal dominant disorder.
- Caused by CAG trinucleotide repeat expansion in the huntingtin gene.
- Affected protein: Huntingtin (Htt).
Clinical Features
- Typically manifests in the fourth or fifth decade of life; onset can vary.
- Anticipation phenomenon may lead to earlier onset in successive generations.
- Initial symptoms include involuntary choreiform movements (jerking, flowing).
- Common personality changes and behavioral disturbances.
- Progressive dementia develops as the disease advances.
- Some individuals may later exhibit parkinsonism, characterized by bradykinesia and rigidity.
Psychosocial Impact and Prognosis
- High suicide rate, even in asymptomatic individuals, due to cognitive and emotional challenges.
- Life expectancy is reduced; death typically occurs 10 to 20 years after symptom onset.
Pathophysiology
- Involves loss of inhibitory output from the striatum to the basal ganglia.
- Results in hyperkinetic movements due to excess neural activity.
- Neuronal apoptosis (cell death) occurs, contributing to disease progression.
Diagnostic Imaging and Pathological Findings
- Gross brain examination shows atrophy, particularly in the basal ganglia (caudate nucleus and putamen).
- Coronal MRI reveals a "box-car" ventricle appearance due to basal ganglia atrophy.
- Microscopic examination indicates severe loss of striatal neurons.
Treatment Approaches
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Chorea Management:
- Tetrabenazine is the treatment of choice.
- Possible side effects include depression and increased suicide risk.
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Dementia Treatment:
- Acetylcholinesterase inhibitors may partially manage cognitive decline.
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Psychosocial Support:
- Neuroleptics and GABA agonists may assist in managing behavioral symptoms.
Clinical Case Highlight
- A 55-year-old male patient with a known history of Huntington disease presents with involuntary movements and behavioral changes.
- Most likely to develop parkinsonism as the condition progresses.
- CAG trinucleotide repeats are located on chromosome 4, confirming the genetic basis of Huntington's disease.
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Description
This quiz covers key aspects of dementia treatment, including the use of acetylcholinesterase inhibitors for cognitive decline and the role of psychosocial support in managing behavioral symptoms. It also addresses the potential side effects of treatments, including depression and increased suicide risk. Test your knowledge on the latest approaches in dementia care.
