neurodegenerative disorders

parkinson’s disease - def

Progressive neurodegenerative disorder → loss of dopamine-producing neurons in substantia
nigra (basal ganglia).

parkinson’s disease - cause

Unknown cause → dopamine depletion → imbalance with acetylcholine.

parkinson’s disease - characterisitics

Affects motor control → movement, posture, fine motor skills.
• Gradual progression → starts with resting tremor → increases disability

parkinson’s disease - deficiency in…

Dopamine ↓ → imbalance with acetylcholine → tremors, rigidity, bradykinesia.
• Lewy bodies (alpha-synuclein accumulation) → neuronal damage.

parkinson’s disease - basal ganglia function

Acetylcholine → stimulates muscle movement.
 Dopamine → inhibits excessive movement.
 Lack of dopamine → unopposed acetylcholine → abnormal muscle movements.

parkinson’s disease - motor symptoms

Resting tremor (pill-rolling).
• Rigidity (stiffness).
• Bradykinesia (slowness).
• Postural instability → balance difficulty.

parkinson’s disease - non-motor symptoms

Depression, cognitive decline, sleep issues.
• Speech: low, monotone.
• Facial mask, shuffling gait, lack of arm swing

parkinson’s disease - other considerations

Difficulty with daily tasks → falls, dysphagia, aspiration risk.
• Cognitive impairment → memory loss → eventual dementia.
• ↑ risk for depression/anxiety.

parkinson’s disease - diagnostics

• no definitive test

• DaTscan: Dopamine transporter scan to evaluate dopamine deficiency.
  • MRI/CT: Rule out other conditions but often normal in PD.
  • Neurological exam: Check for resting tremor, rigidity, bradykinesia, and postural instability.

parkinson’s disease - pharm treatment

• Levodopa/Carbidopa: Increases dopamine levels in the brain.

• dopamine agonists: mimics dopamine effects

• COMT: extends levodopa

• anticholinergics: used to manage resting tremor

parkinson’s disease - non-pharm treatment

• Deep brain stimulation (DBS) for advanced stages.

• Physical therapy to improve mobility and prevent falls.

• Speech therapy for voice and swallowing issues

multiple sclerosis - def

Chronic neurological disorder affecting the brain, spinal cord, and optic nerves, characterized by demyelination, inflammation, and myelin damage.

multiple sclerosis - cause

Unknown; autoimmune inflammatory disorder targeting CNS myelin and PNS.

multiple sclerosis - disease characteristics

Progressive CNS damage and neurological disability.
• Relapse-remitting pattern with periods of exacerbation and remission.
• Most common in ages 20-40; leading cause of neurologic disability

multiple sclerosis - demylination

Affects multiple CNS areas, especially optic nerves.
• Impacts both sensory and motor neurons.

multiple sclerosis - symptoms

Fatigue, weakness, numbness/tingling, balance problems, blurred vision.
• Motor Symptoms: Hemiparesis, paraparesis, quadriparesis; dysphagia in severe cases.
• Sensory Symptoms: Ataxia, tremor, dysarthria.
 Cognitive Impairments: Affects recent memory, abstract reasoning, attention, and visual-spatial perception

multiple sclerosis - complications

Monitor gag reflex for aspiration pneumonia risk.
• Diaphragm involvement can lead to respiratory difficulty.

multiple sclerosis - diagnostics

MRI: Shows CNS demyelination (lesions).
• Lumbar puncture- CSF: Increased oligoclonal bands indicate inflammation.
• Evoked Potentials: Assess nerve conduction delays.

multiple sclerosis - treatment

Acute Exacerbations:
 Corticosteroids to reduce inflammation.
2. Prevention of Exacerbations:
 Immunomodulatory drugs (e.g., interferon beta 1b).
3. Supportive Measures:
 Physical therapy and symptom management to support mobility and quality of life.

Alzheimers - def

Progressive neurodegenerative disorder → memory loss, cognitive decline,
behavior changes.
• Involves amyloid plaques & tau tangles → neuronal death.

Alzheimers - risk factors

Age, genetics (e.g., APOE ε4), family hx, head injury

Alzheimers - symptoms

Memory loss, confusion, language & judgment issues → personality changes, disorientation.

Alzheimers - cog impairments

Recent memory, abstract reasoning, attention ↓.
• Long-term memory & language skills less affected.

Alzheimers - diagnosis

• no definitive test

• cognitive tests: mmse, MoCA

• imaging: MRI/CT - brain atrophy, rule out other causes

• biomarkers: CSF = amyloid/tau levels, PET = amyloid plaques

Alzheimers - treatment - nonpharm

cognitive stimulation therapy, physical exercise, and support groups

Alzheimers - pharm

cholinesterase inhibitors:

• donepexil (articept)

• increases ACH levels to improve cognition

NMDA

• memantine (namenda)

• regulates glutamate to improve cognition and function

myasthenia gravis - def

chronic autoimmune disorder where antibodies attack ACH receptors at neuromuscular junction junction causing muscle weakness

myasthenia gravis - patho

reduced ACH binding = impaired neuromuscular transmission = weakness in eye, swallowing, and breathing muscles

myasthenia gravis - symptoms

• ptosis (drooping eyelids)

• diplopia(double vision)

• muscle weakness

• difficulty with swallowing, speaking, and breathing

• weakness worsens with activity and improves with rest

progression: may lead to respiratory failure

myasthenia gravis - diagnostics

Anti-AChR Antibodies: • Elevated in most patients.
• EMG: • Decreased muscle response with repetitive nerve stimulation.
• Tensilon Test: • Temporary improvement in muscle strength with edrophonium injection.
• CT/MRI: • To check for thymoma (thymus gland
tumor).

myasthenia gravis - treatment - pharm

Pyridostigmine(Mestinon): Acetylcholinesterase inhibitor, increases acetylcholine at
the neuromuscular junction.
2. Immunosuppressive drugs (e.g., Prednisone, Azathioprine): To reduce antibody production.
3. IV Immunoglobulin (IVIG) and Plasmapheresis: For acute exacerbations

myasthenia gravis - nonpharm

Thymectomy: Removal of the thymus gland, which can improve symptoms in some patients.
4. Physical therapy to improve muscle strength and function.
5. Respiratory support if needed.

ALS - def

Progressive neurodegenerative disease affecting motor neurons, leading to muscle
weakness, atrophy, and paralysis

ALS - patho

Motor neurons in the brain and spinal cord degenerate, causing loss of voluntary muscle control

ALS - symptoms

weakness, muscle wasting, twitching, dysphagia, and respiratory difficulty

• cognitive function remains intact until later stages

ALS - progression

Affects upper and lower motor neurons, leading to respiratory failure and death, often requiring ventilation

ALS - diagnostics

EMG (Electromyography): Confirms motor neuron involvement.
 Nerve Conduction Studies: Assess for nerve damage.
 MRI: Rule out other conditions.
 Blood tests: To rule out other causes of weakness.

ALS - treatment - nonpharm

Supportive care (e.g., feeding tubes, respiratory support), physical therapy, and speech therapy.

GBS - def

Acute autoimmune condition where the body’s immune system attacks peripheral motor neurons, leading to muscle weakness and paralysis

GBS - patho

Triggered by an infection, often respiratory or gastrointestinal, leading to demyelination of peripheral nerves

GBS - symptoms

Ascending muscle weakness, numbness, loss of reflexes.
• Severe cases can progress to respiratory failure.

GBS - onset

Rapid onset over days to weeks, usually after an infection

GBS - diagnostics

Lumbar Puncture: High protein, normal WBCs.
• Nerve Conduction Studies: Slowed conduction.
• EMG: Detects demyelination

GBS - treatment - pharm

Plasmapheresis and/or IVIG: Reduces autoimmune attack.
• Corticosteroids: Occasionally used

GBS - non-pharm

Respiratory support, physical therapy, rehab

GBS - prognosis

Lumbar Puncture: High protein, normal WBCs.
• Nerve Conduction Studies: Slowed conduction.
• EMG: detects demyelination

huntington - def

Rare genetic disorder →progressive motor dysfunction, cognitive decline, and psychiatric symptoms.

huntington - patho

HTT gene mutation w/ CAG repeat expansion →neuron degeneration.

huntington - symptoms

Chorea (involuntary movements), dementia, mood swings, personality changes.

huntington - progression

Starts in mid-adulthood, leading to severe disability and death

huntington - diagnostics

Genetic testing: HTT gene mutation, CAG sequence
• Neuro exam: Chorea and motor changes.
• MRI: Brain atrophy, esp. caudate nucleus.

huntington -treatment pharm and non-pharm

pharm: tetrabenazine and antidepressants, antipsychotics

non - pharm: physical, occupational, speech therapy, and psychosocial support