Huntington's Disease Overview
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Questions and Answers

Which function is primarily associated with dopamine?

  • Memory processing
  • Reward and motivation (correct)
  • Sleep patterns
  • Mood regulation
  • What is a common risk factor for Huntington's disease?

  • Lifestyle choices
  • Family history of diabetes
  • A parent with a mutation in the HD gene (correct)
  • Exposure to toxins
  • Which treatment aims to reduce dopamine activity in symptomatic management?

  • Baclofen
  • Tetrabenazine (correct)
  • Neurotrophic factors
  • Antidepressants
  • Which of the following is NOT a function of serotonin?

    <p>Reward system activation (C)</p> Signup and view all the answers

    Which diagnostic method is NOT included for Huntington's disease?

    <p>Blood pressure measurement (B)</p> Signup and view all the answers

    What is the typical average age of onset for Huntington's Disease?

    <p>40 years (B)</p> Signup and view all the answers

    Which of the following statements about autosomal dominant inheritance is true?

    <p>A child has a 50% chance of inheriting the mutated gene from one affected parent. (D)</p> Signup and view all the answers

    Which symptom is classified as a cognitive symptom of Huntington's Disease?

    <p>Dementia (C)</p> Signup and view all the answers

    In the early stages of Huntington's Disease, which symptom is NOT typically observed?

    <p>Prominent chorea (A)</p> Signup and view all the answers

    During the middle stage of Huntington's Disease, which ability is lost?

    <p>Ability to work and drive (B)</p> Signup and view all the answers

    What is a characteristic feature of chorea in Huntington's Disease?

    <p>Brief, unpredictable irregular movements (D)</p> Signup and view all the answers

    Which of the following is a symptom that indicates a person is entering the late stage of Huntington's Disease?

    <p>Require assistance with daily activities (C)</p> Signup and view all the answers

    What psychiatric symptom is commonly associated with Huntington's Disease?

    <p>Aggression (D)</p> Signup and view all the answers

    What is the primary genetic cause of Huntington's disease?

    <p>A mutation in the huntingtin gene leading to expanded CAG repeats (D)</p> Signup and view all the answers

    Which symptom is commonly observed in patients with advanced Huntington's disease?

    <p>Severe chorea with rigidity and bradykinesia (C)</p> Signup and view all the answers

    How does the number of CAG repeats in the huntingtin gene relate to symptom onset?

    <p>More CAG repeats result in an earlier onset of symptoms (A)</p> Signup and view all the answers

    Which neurotransmitter levels are abnormal in Huntington's disease due to neuronal cell death?

    <p>Abnormal levels of GABA and dopamine (D)</p> Signup and view all the answers

    Which brain regions are primarily affected in Huntington's disease?

    <p>Basal ganglia, specifically the striatum and cerebral cortex (C)</p> Signup and view all the answers

    Which statement accurately describes the progression of speech impairments in Huntington's disease?

    <p>Articulation impairment increases with the decline of voluntary control (B)</p> Signup and view all the answers

    What aspect of Huntington's disease complicates the recognition and treatment of psychiatric symptoms?

    <p>Communication difficulties due to speech impairments (D)</p> Signup and view all the answers

    What happens to the levels of huntingtin protein in neurons as Huntington's disease progresses?

    <p>They accumulate and cause neuronal loss (C)</p> Signup and view all the answers

    Flashcards

    Huntington's Disease

    A neurodegenerative disorder with autosomal dominant inheritance.

    Autosomal Dominant Inheritance

    A single mutated gene from one parent can cause a condition. A child has a 50% chance of inheriting if a parent has it.

    HD Symptoms (Motor)

    Involuntary movements, restlessness, rigidity, spasticity, poor coordination, and abnormal voluntary movements.

    HD Symptoms (Psychiatric)

    Mood changes, like depression, aggression, irritability, apathy, impulsivity and antisocial behavior.

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    HD Symptoms (Cognitive)

    Problems with thinking and memory, such as planning, organizing difficulty, memory loss, inattention, and dementia.

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    Chorea

    Brief, involuntary, unpredictable, and irregular movements that flow from one muscle to another.

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    Early Stage HD

    The initial stage of HD, characterized by mild symptoms and good functioning, but with early signs of motor and cognitive problems.

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    Late Stage HD

    The final stage of HD where a person requires significant assistance for daily living due to severe motor and cognitive impairments.

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    Huntington's Disease (HD)

    A genetic disorder causing progressive, severe nervous system problems, including uncontrolled jerky movements (chorea), dementia, and emotional/mood issues.

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    Cause of HD

    Inherited trinucleotide repeat disorder, specifically a mutation in the Huntington gene on chromosome 4.

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    Huntington Protein (htt)

    The protein produced by the Huntington gene; its important function in cellular processes is disrupted in HD.

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    Symptoms of HD (late stage)

    Severe chorea (jerky movements), rigidity, dystonia, bradykinesia (slow movement) and communication issues are common in late-stage HD.

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    Speech Impairments in HD

    HD causes problems with speech, including a slower progression, soft or loud voice (hypo/explosive), articulation problems, and coordination difficulties that make speech hard to understand.

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    CAG Repeat Expansion

    A specific mutation involving an increased number of CAG (glutamine) repeats in the Huntington gene. Key to the disease mechanism.

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    Brain Regions Affected in HD

    HD primarily affects the basal ganglia, particularly the caudate nucleus and putamen, leading to neuronal loss.

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    Neurotransmitter Pathways Affected in HD

    HD disrupts neurotransmitters like GABA and dopamine, impacting brain function and causing symptoms.

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    Dopamine's role in HD

    High dopamine levels can cause problems in Huntington's Disease (HD) due to degeneration of GABAergic neurons, which normally control dopamine release.

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    Why reduce dopamine in HD?

    Reducing dopamine activity helps restore balance in neurotransmitter function, improving some HD symptoms like involuntary movements.

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    HD Inheritance

    Huntington's Disease (HD) is inherited in an autosomal dominant pattern. This means a child has a 50% chance of inheriting the disease if one parent has the HD gene mutation.

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    HD Diagnosis

    Diagnosing HD involves medical history, neurological exam, and genetic testing. Sometimes prenatal testing is done to see if a fetus has the HD gene.

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    HD Treatment Options

    Treatments for HD aim to manage symptoms. This includes medications, therapies, and ongoing research for future cures.

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    Study Notes

    Huntington's Disease

    • A familial neurodegenerative disorder
    • Autosomal dominant inheritance
    • Average onset at 40 years old
    • No cure

    Inheritance

    • Genetic trait passed from parent to child
    • One mutated gene from one parent can cause the condition
    • Child with a parent with the mutated gene has a 50% chance of inheriting it
    • Men and women have equal likelihood of having the mutation
    • Sons and daughters have equal likelihood of inheriting the mutation

    Symptoms (Motor)

    • Involuntary twitching
    • Excessive restlessness
    • Rigidity
    • Spasticity
    • Decreased coordination
    • Voluntary movement abnormalities

    Symptoms (Psychiatric)

    • Depression
    • Aggression
    • Irritability
    • Apathy
    • Impulsivity
    • Antisocial behaviour

    Symptoms (Cognitive)

    • Planning/organising problems
    • Memory loss
    • Inattention
    • Dementia

    Chorea

    • Brief, involuntary, unpredictable irregular movements
    • Flowing from one muscle to the next, like a dance
    • Interferes with speech, swallowing, posture, gait
    • Disappears in sleep

    Stages of HD

    Early Stage

    • Functional: work, drive, handle money, live independently
    • Symptoms: minor involuntary movements, subtle loss of coordination, difficulty with complex thought processes

    Middle Stage

    • Lose ability to work, drive
    • Can perform Activities of Daily Living (ADLs)
    • Prominent chorea
    • Increasing difficulty with voluntary tasks, problems with swallowing and balance

    Late Stage

    • Require assistance with all activities
    • Often nonverbal
    • Bedridden
    • Some comprehension may remain
    • Severe chorea, rigidity, dystonia, bradykinesia

    Speech Impairments

    • Slow progression
    • Hypophonic/explosive voice
    • Impaired articulation
    • Decline in voluntary control of lips/tongue/mouth movement
    • Worsening speech intelligibility

    Cause of HD

    • Inherited trinucleotide repeat disorders
    • Most common: repeat mutant genes expressed throughout the body (Friedreich's ataxia, Spinocerebellar Ataxia)

    Huntington Gene/Protein

    • Chromosome 4
    • CAG (glutamine residue) repeated up to 30 times
    • Codes for the protein Huntington (htt)
    • Involved in cellular transport, protein processing, synaptic function
    • High expression in brain neurons

    How Huntington Gene Causes Neuronal Cell Death

    • Unknown mechanisms; proposed mechanisms include:
      • Impaired protein trafficking
      • Polyglutamine aggregation
      • Excitotoxicity
      • Oxidative stress
      • Programmed cell death (apoptosis)
    • Abnormal levels of GABA and dopamine

    Symptoms Onset

    • Higher the number of CAG repeats, earlier the onset of symptoms

    Brain Regions Affected

    • Basal ganglia (caudate nucleus, putamen)
    • Widespread neuronal loss initially in striatum, extends to other regions
    • Accumulation of huntingtin protein
    • GABA neurons are lost

    Neurotransmitter Pathways Affected

    Dopamine

    • Functions: reward, pleasure, motor function, compulsion, perseveration

    Serotonin

    • Functions: mood, memory processing, sleep, cognition

    • Striatal GABAergic neuron degeneration can cause hyperactivity of dopaminergic systems

    • Reducing dopaminergic activity might help restore neurotransmitter balance

    Risk Factors

    • Parent with HD mutation has a 50% chance of passing it to their children

    Diagnosis

    • Physical and neurological exam
    • Medical and family history
    • Clinical rating scales to assess symptom severity and frequency
    • Genetic testing
    • Prenatal testing (amniocentesis, chorionic villus sampling)

    Treatment

    • Symptomatic drug treatment
    • Addresses motor symptoms

    Future Therapies

    • Gene therapy
    • Htt aggregation blockers
    • Anti-apoptotic drugs
    • Antioxidants
    • Neurotrophic factors
    • Transplantation

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    Related Documents

    Huntington's Disease PDF

    Description

    This quiz explores Huntington's disease, a familial neurodegenerative disorder characterized by autosomal dominant inheritance and symptoms affecting motor, psychiatric, and cognitive functions. Understand the genetic implications, typical onset age, and the nature of chorea. Test your knowledge on this significant condition and its impact on individuals and families.

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