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Fundamentals of neuroscience > Neurodegenerative disorders (diseases of NS) > Flashcards

Neurodegenerative disorders (diseases of NS) Flashcards

1
Q

What is Huntington’s disease?

A

A hereditary movement disorder typically characterised by choeric (involuntary) movements

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2
Q

What is Huntington’s disease a result of?

A

The death of the basal ganglia neurones

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3
Q

Who first described Huntington’s disease?

A

George Huntington in 1872 in ‘Essay in Choera’

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4
Q

When is the typical onset of Huntington’s disease?

A

30-50 years old

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5
Q

What is the prognosis for Huntington’s disease?

A

15-20 years from diagnosis to death

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6
Q

What is the incidence of Huntington’s disease?

A

Rare = 1 in 10,000

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7
Q

What is the Huntingtin gene?

A
  • Autosomal dominant gene mutation

50% chance of passing it on

  • CAG repeat in the Huntingtin gene
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8
Q

What lenght of CAG repeat can lead to Huntington’s disease?

A

7-34 = Normal

35-39 = Unlikely but could be more likely to pass it onto children than normal

> 40 = HD

> 70 = Juveline HD

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9
Q

What is the roles of the Huntingtin protein?

A
  • Intracellular transport
  • Intracellular signalling
  • Matabolism
  • Neurogenesis
  • Synaptic activity
  • Transcription regulation
  • Anti-apoptotic
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10
Q

What are the motor deficit symtoms in the early stage of Huntington’s disease?

A
  • Abnormal eye movements
  • Inappropriate hand and toes movements
  • General restlessness
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11
Q

What are the motor deficit symtoms in the mid stage of Huntington’s disease?

A

Onset of involutary movements (chorea)

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12
Q

What are the motor deficit symtoms in the impaired voluntary movements stage of Huntington’s disease?

A
  • Rigidity
  • Bradykinesia
  • Dystonia
  • Convulsions
  • Weight loss
  • Leading to death from pneumonia, choking, nutritional deficits
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13
Q

Which areas of cognition are affected wiht Huntington’s disease?

A
  • Executive function
  • Learning new skills
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14
Q

Which areas of cognition are not affected with Huntington’s disease?

A

Declarative memory

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15
Q

What is the gross pathology of Huntington’s disease?

A
  • 10-20% reduction in brain volume
  • Dec striatal volume
  • Inc ventricle size
  • Dec cortical volume
  • Protein inclusions throughout the brain
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16
Q

What is the overall cellular pathology of Huntington’s disease

A
  • Cell death
  • Primarily loss of GABAergic neurones in the striatum
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17
Q

What is the inital cellular pathology of Huntington’s disease?

A
  • Losss of GABAergic neurones which express D2 recpetors & project to globus pallidus external
  • Damage to indirect pathway
  • Excessive involuntary movements
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18
Q

What is the later stage cellular pathology of Huntington’s disease?

A
  • Loss of GABAergic neurones which express D1 receptors & project to globus pallid us internal
  • Damage to direct pathways
  • Paucity of movements
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19
Q

What are the treatments for Huntington’s disease?

A
  • Currently no cure
  • Treatment limited to symptom relief
  • Supportive care is essential
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20
Q

What are the types of supportive care provided as a treatment for Huntington’s?

A
  • Psychotherapy
  • Physiotherapy
  • Speech and swallowing therapy
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21
Q

What is Parkinson’s diesease?

A

Movement disorder typically characterised by tremors and bradykinesia

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22
Q

What is the cause of Parkinson’s disease?

A

As a result of death of the substantial nigra neurones

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23
Q

When is the typical onset of Parkinson’s disease?

A

60s - disease of ageing

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24
Q

What is the incidence of Parkinson’s disease?

A

1 in 500 in the UK

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25
What are the 3 main causes of Parkinson's disease?
- Idiopathic - Familial - Parkinsonism
26
How do idiopathic reasons cause Parkinson's disease?
- Majority of cases - Unknown cause
27
What are the familial causes of Parkinson's disease?
Multuple mutations can cause Parkinson's disease
28
How does parkinsonism cause Parkinson's disease?
- Maybe caused by DISEASES e.g. encephalitis and syphilis - Maybe caused by DRUGS e.g. MPTP - Maybe caused by HERBICIDES e.g. cypberquat
29
What are the primary symptoms of Parkinson's disease?
- Tremor - Bradykinesia (slowness of movement) - Rigidity - Postural instability Must display 3 or 4 of these to be diagnosed
30
What are the other motor symptoms of Parkinson's disease?
- Altered posture - Shuffling gait
31
What are the cognitive and psychological symptoms of Parkinson's disease?
Vary from person to person
32
What is the gross pathology of Parkinson's disease?
- Degeneration of the substantia nigra - Loss of dopaminergic neurones in the substantia seen as a loss of dark melanin staining of the substantia nigra
33
What is the cellular pathology of Parkinson's disease?
- Death of dopaminergic neurones in the substantia nigra that project to the striatum (putamena nd caudate nucleus) of the basal ganglia - Normally these neurones promote the direct pathway - Their death results in reduced activation of the direct pathway & therefore reduced voluntary movement
34
What are the 3 main treatments for Parkinson's disease?
- Increase levels of dopamine - Physiotherapy - Deep brain stimulation (DBS) or lesioning of the internal globus pallidus
35
How is increasing levels of dopamine used to treat Parkinson's disease?
Dopamine precursons e.g. L-dopa
36
How is physiotherapy used to treat Parkinson's disease?
To help with rigidity and stiffness
37
How is Deep brain stimulation (DBS) or lesioning of the internal globus pallidus used to treat Parkinson's disease?
To help counteract the imbalance in the basal ganglia circuitry
38
How is Alzheimer's disease characterised?
By a progressive deterioration in cognitive function Occurs without an antecedent cause
39
What is the most prevalent form of dementia?
Alzheimer's disease ~65% of all dementia cases
40
Who first described Alzheimer's disease?
Alois Alzheimer in 1906
41
When does Alzheimer's disease tend to onset?
Late onset ~95% of cases Early onset (before 65) tends to be familial
42
What is the incidence of Alzheimer's disease?
1 in 14 aged 65+
43
What is the prognosis of Alzheimer's disease?
5-8 years from diagnosis
44
What are the suggested cause of Alzheimer's disease?
- Genetic predisposition - ENvironemental toxins - Reduced blood flow to the hemispheres Cause is unkown
45
What is the main symptom of Alzheimer's disease?
Memory dysfunction: Declarative memory which requires the temporal lobe is most commonly affected
46
To be diagnosed with Alzheimer's disease what are the cognitive deficits that must be displayed? (on top of memory dysfunction)
- Aphasia - Apraxia - Agnosia - Executive dysfunction
47
What is Aphaisa?
Inability to produce or understand language
48
What is Apraxia?
Poor motor planning
49
What is Agnosia?
Inability to recognise things (Can have a number of forms: ibjects, faces, sounds or smells
50
What is the gross pathology of AZ?
- Degeneration of cells in the hippocampus - Cortical degeneration - Enlarged ventricles
51
What is the degeneration of cells in the hippocampus in Alzheimer's disease? (Gross pathology)
- Earliest and most severe changes - Memory dysfunction
52
What is cortical degeneration in Alzheimer's disease? (Gross pathology)
- Most affected areas are in the limbic cortex, inferior temoral cortex & posterior parietal ccortex - Decline in language & judgement - Emotional outbursts
53
What areas of the brain change with Alzheimer's disease? (Gross pathology)
- Severely enlarged ventricles Extreme shrinkage of: - Cerebral cortex - Hippocampus - Entorhinal cortex
54
What are the two pain changes that occur in cellular pathology with Alzheimer's disease?
- Amyloid plaques - Neurofibrillary tangles - Cortical degeneration
55
What are amyloid plaques in Alzheimer's disease like? (Cellular pathology)
- Main pathological marker - EXTRACELLULAR deposits - Located mostly in teh CEREBRAL CORTEX - Associated w neuronal cell death
56
What are neurofibrillary tangles? (Cellular pathology)
Disorganised bundles of filaments in the neuronal cytoplasm formed by hyperphosphorylated tau proteins
57
What are Amyloid plaques?
Large neurotoxic aggregates of insoluble amyloid protein
58
What are neurofibrillary tangles like in Alzheimer's disease? (Cellular pathology)
- INTRACELLULAR - Located in the CEREBRAL CORTEX & HIPPOCAMPUS - Inc as the disease progresses - Associated w neuronal cell death
59
What is cortical degeneration like in Alzheimer's disease? (Cellular pathology)
- Cerebral atrophy (dec in size) may be largely due to the loss of dendritic arborisation (branching at the end of a nerve fibre) - Reduction in synapses leads to loss of neurones and atrophy
60
What NT loss happens in Alzheimer's disease?
- Cholinergic (ACh) pathways most affected - Predominant in the hippocampus and cerebral cortex
61
What is the treatment for Alzheimer's disease?
Stimulate cholinergic function
62
How is stimulating cholinergic function used to treat Alzheimer's disease?
- Acetylcholinesterase inhibitors - In ACh at synapses - Slows progression of the disease - Only a TEMPORARY SOLUTION since neurones die

Fundamentals of neuroscience (38 decks)

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