Term
| What are the different types and components of Ataxia? |
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Definition
Pathology in cerebellum or proprioceptive input.
1) Types
- Gait
- Truncal
- Limb (appendicular)
- Cerebellar
- Eye movement
2) Components
- Dysmetria (judging distance and direction)
- Dysdiadochokinesis (decomposition of rapid alternating movement)
- Tremor |
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Term
| Explain the relevance of Holmes' experiments on Ataxia in the 1930s. |
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Definition
1) Dysmetria-affected arm starts a voluntary movement to a target with Greater latency and Lower velocity (overshooting target and oscillating on approach)
2) Dysdiadochokinesis- Affected limb makes slower, smaller and less regular oscillating movements than normal limb. |
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Term
| What are the 3 rules of clinical localization in cerebellar ataxia? |
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Definition
1) Pathology is ipsilateral to ataxia
2) Midline pathology causes more truncal/gait disturbance
3) Hemisphere pathology causes more appendicular ataxia |
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Term
| When might you see unilateral vs. bilateral/symmetrical ataxia? |
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Definition
1) Unilateral reflects focal lesion, such as stroke, tumour
2) Bilateral reflects metabolic or degenerative problems (hypothyroidism or hereditary ataxia) |
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Term
| How is cerebellar ataxia generally treated? |
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Definition
| Direct at underlying cause (i.e. try thyroid replacement for hypothyroid induced bilateral ataxia) |
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Term
| How do you distinguish sensory ataxia from cerebellar ataxia? |
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Definition
1) Sensory may involve
- loss of joint position sense
- much worse with removed visual feedback (Romberg)
- uncommon to see eye movement abnormalities or dysarthria. |
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Term
| What are the major large fibre sensory neuropathies and spinal cord/dorsal column diseases that produce sensory ataxia? |
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Definition
1) large Fibre
- Inflammatory
- Paraneoplastic
- B6 toxicity
2) SC/DC
- B12 deficiency
- Hereditary
- Tabes dorsalis |
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Term
| What kind of movement disorder is Asterixis? |
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Definition
| Negative myoclonus (interruption of ongoing activity in postural muscle) seen with llver/kidney failure. |
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Term
| How are different types of Myoclonus classified? |
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Definition
Example:
Spontaneous, focal, symptomatic cortical myoclonus
Clinical
1) When
- Spontaneous
- Action
- Reflex
2) Where
- focal
- segmental
- generalized
Physiological
- Cortical
- Subcortical
- Spinal
Aetoiological
- Physiological (no brain disease-hyccup or hypnic jerks)
- Essential (rare hereditary syndrome, myoclonus (+/- dystonia) only feature)
- Symptomatic (brain disease) |
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Term
| What treatments does cortical myoclonus response to? |
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Definition
1) Valproate (seizure medication)
2) Chlonazepam (Benzo)
3) Levetiracetam |
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Term
What does it mean that tics are "Unvoluntary"?
What are examples of simple vs. complex motor and vocal ticks? |
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Definition
They are under voluntary control but produced automatically. Often associated with OCD-type conditions.
1) SM
- Blink, Grimace, Pout, Head jerk
2) CM
- Spitting, Jumping, Kicking
3) SV
- Sniff
- Grunt
- Cough
4) CV
- Belch
- Palilalia
- Coprolalia |
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Term
| What are the major differences between the causes of Primary vs. Secondary tics? |
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Definition
1) Primary
- Usually hereditary and starting in childhood
- ex) transient child tics, Chronic motor tics, Tourette's
2) Secondary
- Adult-onset (drugs, post-infectious, neurodegenerative) |
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Term
| What is Tourette's syndrome and how is it treated? |
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Definition
1) Primary tic disorder (usually hereditary) characterized by multiple motor tics and at least 1 vocal tic.
- Onset <18
2) Treat
- Alpha agnoist- Clonidine
- Atypical antipsychotic- Resperidone, olanzapine
- Neuroleptic- Haloperidol, chlorpromazine
- DA depletor- Tetrabenazine
- Benzo- Clonazepam |
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Term
| What is the cause of Wilson's disease and how is it treated? |
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Definition
1) Rare autosomal recessive condition of Copper metabolism in BG (screen the kids)
- Caused by loss of function mutations in trans-golgi ATPase involved in Cu transport (can't excrete in bile and loss of incorporation into protein)
- Clinically, look for facial dystonia with retraced upper lip and copper in Descemet's membrane in cornea (Kayser-Fleischer rings).
- Serologically, look for low serum caeruloplasmin (Cu-bearing enzyme in iron oxidation), low serum copper and elevated urinary copper
2) CURABLE if diagnosed early
- Raise urinary output with Penicillamine or Trientene
- Prevent absorption of dietary copper using oral zinc salts
- Presents with Akinetic-rigid movements, Cerebellar ataxia, Tremor, Dystonia and Psychiatric signs
- associated with liver disease, hepatitis and cirrhosis as well |
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Term
A patient presents with facial dystonia with a retraced upper lip and copper in Descemet's membrane of their cornea.
How could you confirm a diagnosis and treat this condition? |
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Definition
Most likely Wilson's Disease (often occurs in kids with liver disease)
Look for low caeruloplasmin, serum copper and high urinary copper to confirm
- Raise urinary Cu output with Trientene or Penicillamine
- Prevent absorption of dietary Cu with Zinc Salts
- Liver transplant will work |
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Term
| Distinguish between "dysarthria," "dysphonia," and "dysphasia." |
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Definition
1) Dysarthria- slurred speech (Cerebellar)
2) Dysphonia- issue with production of sound for speech
3) Dysphasia- issue with language production or comprehension |
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Term
| What clinical signs are associated with efferent vs. afferent cerebellar disease? |
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Definition
1) Intention tremor is seen with efferent disease
- Dentate....Red nucleus....Thalamus
2) Ataxia is seen with afferent disease (inferior/middle peduncle or spinocerebellar tract) |
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Term
Your patient is unable to suppress their VOR reflex when moving their head. Additionally, you note considerable gaze-evoked nystagmus.
What kind of issue is this? |
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Definition
Cerebellar Ataxia
Lesion of floculonodular lobe and adjacent Vermis, or brainstem connections.
Can be acute, subacute or chronic |
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Term
Why might you be concerned if your patient has a B1 deficiency?
What would you see on MRI? |
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Definition
Such a thiamin deficiency can lead to Wernicke's Encephalopathy, which is a characteristically bilateral/symmetric acute cause of ataxia.
- Presents with ataxia, confusion and ocular-motor issues.
- If untreated, it can become irreversible (give B1 BEFORE giving glucose)
- Won't show up on MRI |
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Term
What is the major cause of symmetrical subacute ataxia (days to weeks).
What treatment option is available |
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Definition
Paraneoplastic syndrome
- T-cell mediated response to tumor
- REMOVE the tumor. |
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Term
| How do you treat a patient with Wernicke's encephalopathy? |
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Definition
For Cerebellar Ataxia, treat underlying issue.
In this case, thiamine replacement is key |
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Term
A patient who recently was diagnosed and treated for a Campylobacter infection presents with ataxia.
Why might you order IV IG for this patient? |
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Definition
Miller Fischer syndrome can present this way following infection.
- It is an immune-response (cross-reactive) mediated neuropathy that is treated with IV IG. |
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Term
A patient presents with ataxia, loss of position sense and a positive Romberg sign. Babinski sign is present and there is evidence of paresis as well.
There is no evidence of dysarthria or eye movement abnormalities.
What could be going on? |
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Definition
Subacute combined degeneration of spinal cord from B12 deficiency.
-The ataxia coupled with the loss of position sense and the absence of ocular/dysarthria suggest a sensory ataxia.
- Specifically, the Babinski sign and paresis are associated with a B12 deficiency.
- Deficiency leads to pernicious, macrocytic anemia, which causes demyelination of cervical spinal chord. |
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Term
| What are the diagnostic criteria for Tourette's syndrome? |
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Definition
-Must be <18 years old with >1 motor tics and at least 1 vocal tic.
- Must impede social function. |
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Term
A patient presents with a present Babinski sign and Paresis. Light touch and vibration senses are suppressed in cervical distribution.
What is going on and why should you treat immediately? |
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Definition
Sub-acture combined degeneration of SC from pernicious anemia (B12 deficiency)
- If untreated, leads to blindness, degeneration and death! |
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Term
| What is PANDAS? How do you treat? |
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Definition
Post-infectious (strep) autoimmune neuropathy affecting kids and causing secondary tic disorders.
Treat the THROAT INFECTION. |
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Term
| What muscles are involved in Hemifacial Spasm? How does it arise and how is it treated? |
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Definition
Obicularis oculi and Zygomaticous.
- Caused by compression of CN VII by vasculature.
- Treat with Botox injection |
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Term
A patient presents with rythmic-rippling contractions of their facial muscles.
What is going on? |
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Definition
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Term
A child presents with akinetic-rigid movements, cerebellar ataxia, Tremor, Dystonia and Psychiatric signs, as well as liver disease.
What tests would you order? |
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Definition
Sounds like Wilson's!
Get a urine copper analysis and Caeruloplasmin.
Look for brown spots in eyes as well and dystonia of upper lip. |
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