Cerebellar Disease

Question 1

What is ataxia?

Answer 1

Cerebellar dysfunction causes ataxia that manifests as incoordination of limb function, gait ataxia, speech or eye movement. Ataxia is a sign and not a disease.

Question 2

Causes of cerebellar ataxia?

Answer 2

Can be inherited (20%) or acquired (80%)

(1. ) Inherited:
- Autosomal recessive ataxia
- Autosomal dominant ataxia
- Friedreich’s ataxia (FA)
- Spinocerebellar ataxia 6 (SCA 6)
- Episodic Ataxia

(2. ) Acquired
- toxic: alcohol, phenytoin (AEDs), lithium
- immune mediated
- neurodegenerative (MSA-C, PSP)
- idiopathic sporadic
- vascular/structural = stoke, haemorrhage

Question 3

Clinical features of cerebellar ataxia? (7)

Answer 3

(1. ) Nystagmus (abnormalities of eye movement)
(2. ) Dysarthria (slurring speech, swallowing difficulty)
(3. ) Action tremor
(4. ) Dysdiadochokinesia: impaired ability to perform rapid, alternating movements
(5. ) Uncoordinated movement
- Clumsiness
- Loss of precision of fine movement/motor skills
- Unsteadiness when walking/worse in the dark
- Stumbles and falls

(6. ) Truncal + Limb ataxia
(7. ) Gait ataxia: wide based gait and appear ‘drunk’

Question 4

What is Sensory ataxia? Causes? Ex?

Answer 4

(1. ) Sensory ataxia (caused by inflammation, demyelination, vitamin deficiencies, infections, inherited disorders)
(2. ) Pt experience problems with proprioception
(3. ) O/E they will be unable to stand with eyes closed (positive Romberg’s sign), pt may walk heavily as they are unable/unsure where to place their feet, they may stumble in the dark

Question 5

Ex of ataxia?

Answer 5

(1. ) Finger-nose testing and rapid alternating movement test
- Will shows dysmetria and dysdiadochokinesia

(2. ) Upper limb will show:
- intention tremor (tremor that increases in amplitude as a finger approaches the target)
- past-pointing
- dysmetria
- dysdiadochokinesis

(3.) Heel–shin ataxia

(4. ) Look for:
- sensory ataxia
- Gait
- Limb ataxia
- Eye movement
- Speech

Question 6

Ix of ataxia (6)

Answer 6

(1. ) Imaging
- Brain and spinal cord MRI
(2. ) Blood tests:
- ESR, LFT, B12, TFT, Copper

(3. ) Screening and Serology
- Paraneoplastic screen
- Anti-tissue transglutaminase antibody,
- Some drug levels (carbamazepine, phenytoin, lithium)

(4. ) Lumbar puncture
- examine CSF for oligoclonal bands

(5. ) Electromyography (EMG) and nerve conduction studies (NCS)
(6. ) Genetic testing

Question 7

Mx of ataxia

Answer 7

Non-pharmcological

• multidisciplinary approach
• physiotherapy
• occupational therapy
• speech and language therapy
• CBT

Pharmacological

• Muscle relaxants: baclofen, botox
• Urinary incontinence: limit fluid intake, caffeine, alcohol, catheter use
• Erectile dysfunction: PDE5i - sildenafil
• Nerve pain: amitriptyline, gabapentin or pregabalin.